01
At a glance
Association overview
Clinical actionability
Approved therapy
Anakinra
Clinical trials1 targeting this disorder / 128 total
Inheritance
Autosomal dominant
Onset
Childhood, Infancy, Neonatal
ClinVar records 261 variants in NLRP3 linked to this disorder, 12 of them classified pathogenic or likely pathogenic.[4] 65 clinical features are documented for the disorder.[2][5][1][6] Clinically, it is a rare disorder (prevalence <1/1000000), and onset is typically reported in childhood, infancy, neonatal.[7]
NLRP3 is targeted by Anakinra, a compound approved for clinical use. Of 128 clinical trials reached through NLRP3 compounds, 1 target Muckle-Wells Syndrome directly; the rest study those compounds in other indications.[8][7] 24 publications jointly reference NLRP3 and Muckle-Wells Syndrome.[9][10][11]
Evidence strength
4 curated sources
Gene category
Protein Coding
Disorder categories
Blood diseases, Bone diseases, Ear diseases, Nephrological diseases, Skin diseases
02
Provenance
Evidence and sources
Molecular basis known
Causative germline mutation
UniProtKB/Swiss-ProtCuratedmuckle_wells_syndrome
Causative variation
ClinVarCuratedfamilial amyloid nephropathy with urticaria and deafness
Pathogenic
03
NLRP3
The gene
AI-generated gene summary · distilled from the cited source summaries below
NLRP3 encodes a cytoplasmic pattern recognition receptor that detects membrane disturbances, K+ efflux, and diverse pathogen- or damage-associated signals to assemble the NLRP3 inflammasome. The protein contains pyrin, NACHT, and leucine-rich repeat domains, and localizes to the cytoplasm, cytosol, Golgi membrane, and the canonical inflammasome complex. It functions as a central sensor in innate immunity and inflammation.
Through interaction with PYCARD/ASC, NLRP3 forms an inflammasome complex that activates caspase-1. This leads to maturation of IL1B and IL18, GSDMD cleavage, and pyroptosis, while also promoting HMGB1 release and neutrophil recruitment during tissue injury. The SARS-CoV 3a protein has been shown to activate the NLRP3 inflammasome via ion channel formation in macrophages. RNA expression is highest in the hematopoietic system, with lower protein expression reported in brain and the female reproductive system.
Pathogenic variants in NLRP3 are reported in cryopyrin-associated periodic syndrome, cinca syndrome, Muckle-Wells syndrome, and familial amyloid nephropathy with urticaria and deafness. Related clinical conditions also include familial cold autoinflammatory syndrome and keratoendotheliitis fugax hereditaria, and these variant-associated disorders place NLRP3 in the center of inherited autoinflammatory disease. The NLRP3-targeting drug dapansutrile provides therapeutic context for this inflammasome pathway.
Gene summaries 1 sources
1 Summary(s) for NLRP3 - Muckle-Wells Syndrome:
| Source | Text |
|---|---|
| NCBI Gene | This gene encodes a pyrin-like protein containing a pyrin domain, a nucleotide-binding site (NBS) domain, and a leucine-rich repeat (LRR) motif. This protein interacts with the apoptosis-associated speck-like protein PYCARD/ASC, which contains a caspase recruitment domain, and is a member of the NLRP3 inflammasome complex. This complex functions as an upstream activator of NF-kappaB signaling, and it plays a role in the regulation of inflammation, the immune response, and apoptosis. The SARS-CoV 3a protein, a transmembrane pore-forming viroporin, has been shown to activate the NLRP3 inflammasome via the formation of ion channels in macrophages. Mutations in this gene are associated with familial cold autoinflammatory syndrome (FCAS), Muckle-Wells syndrome (MWS), chronic infantile neurological cutaneous and articular (CINCA) syndrome, neonatal-onset multisystem inflammatory disease (NOMID), keratoendotheliitis fugax hereditarian, and deafness, autosomal dominant 34, with or without inflammation. Multiple alternatively spliced transcript variants encoding distinct isoforms have been identified for this gene. Alternative 5' UTR structures are suggested by available data; however, insufficient evidence is available to determine if all of the represented 5' UTR splice patterns are biologically valid. [provided by RefSeq, Aug 2020] |
Sourced from [12]
04
Muckle-Wells Syndrome
The disorder
AI-generated disorder summary · distilled from the cited disorder sources
Muckle-Wells syndrome is a rare autosomal dominant hereditary periodic fever syndrome and an intermediate form of cryopyrin-associated periodic syndrome (CAPS). It is associated with heterozygous mutation in NLRP3 on chromosome 1q44, also described as a defect in CIAS1, which creates the protein cryopyrin. The disorder is closely related to familial cold urticaria and neonatal onset multisystem inflammatory disease, with all three grouped under CAPS.
Clinically, Muckle-Wells syndrome is characterized by episodic or recurrent fever, malaise and chills, recurrent urticaria-like skin rash or hives, arthralgias or arthralgia/myalgia, eye redness, headaches, and sensorineural deafness that is late-onset or progressive. It is described as a periodic fever syndrome and a syndrome with chronic recurrent urticaria.
The disease can cause reactive renal amyloidosis, including AA-type amyloidosis, and may be severe if generalized reactive amyloidosis occurs. Renal amyloidosis and potentially life-threatening secondary amyloidosis are key complications mentioned in the descriptions.
Disorder summaries 5 sources
5 Summary(s) for NLRP3 - Muckle-Wells Syndrome:
| Source | Summary |
|---|---|
| Disease Ontology | A syndrome characterized by episodic skin rash, arthralgias, and fever associated with late-onset sensorineural deafness and renal amyloidosis that has material basis in heterozygous mutation in the NLRP3 gene on chromosome 1q44. |
| UniProtKB/Swiss-Prot | A hereditary periodic fever syndrome characterized by fever, chronic recurrent urticaria, arthralgias, progressive sensorineural deafness, and reactive renal amyloidosis. The disease may be severe if generalized reactive amyloidosis occurs. |
| OMIM® | Muckle-Wells syndrome (MWS) is characterized by episodic skin rash, arthralgias, and fever associated with late-onset sensorineural deafness and renal amyloidosis (Dode et al., 2002). |
| Orphanet | Muckle-Wells syndrome (MWS) is an intermediate form of cryopyrin-associated periodic syndrome (CAPS) and is characterized by recurrent fever (with malaise and chills), recurrent urticaria-like skin rash, sensorineural deafness, general signs of inflammation (eye redness, headaches, arthralgia/myalgia) and potentially life-threatening secondary amyloidosis (AA type). |
| Wikipedia | Muckle-Wells syndrome (MWS) is a rare autosomal dominant disease which causes sensorineural deafness and recurrent hives, and can lead to amyloidosis. Individuals with MWS often have episodic fever, chills, and joint pain. As a result, MWS is considered a type of periodic fever syndrome. MWS is caused by a defect in the CIAS1 gene which creates the protein cryopyrin. MWS is closely related to two other syndromes, familial cold urticaria and neonatal onset multisystem inflammatory disease—in fact, all three are related to mutations in the same gene and subsumed under the term cryopyrin-associated periodic syndromes (CAPS). |
Prevalence
<1/1000000 (Point prevalence, Europe)
All documented features
65 features
65 Symptom(s) for NLRP3 - Muckle-Wells Syndrome:
| Symptom | Source |
|---|---|
| abnormality of the genital system | Orphanet |
| broad foot | Orphanet |
| pes cavus | HPO |
| recurrent fever | HPO |
| arthralgia, episodic | OMIM® |
| arthritis | Orphanet |
| episcleritis | Orphanet |
| anemia | HPO |
| camptodactyly of finger | HPO |
| conjunctivitis | Orphanet |
| hearing impairment | HPO |
| hernia of the abdominal wall | Orphanet |
| progressive sensorineural hearing impairment | HPO |
| skin rash | Orphanet |
| abnormality of metabolism/homeostasis | HPO |
| elevated erythrocyte sedimentation rate | Orphanet |
| myalgia | Orphanet |
| nephropathy | HPO |
| renal amyloidosis | Orphanet |
| renal amyloidosis, late-onset | OMIM® |
| sensorineural deafness, progressive, late-onset | OMIM® |
| splenomegaly | Orphanet |
| ichthyosis | Orphanet |
| uveitis | HPO |
| chronic fatigue | HPO |
| abnormality of the voice | HPO |
| elevated circulating c-reactive protein concentration | HPO |
| polyarticular arthritis | HPO |
| fever | HPO |
| lower extremity pain | UMLS |
| polymorphonuclear leukocytosis, episodic | OMIM® |
| urticaria | Orphanet |
| abdominal pain | HPO |
| clubbing of fingers | HPO |
| increased erythrocyte sedimentation rate, episodic | OMIM® |
| nephrotic syndrome | Orphanet |
| optic atrophy | HPO |
| recurrent aphthous stomatitis | Orphanet |
| hepatomegaly | Orphanet |
| myalgia, episodic | OMIM® |
| papilledema | HPO |
| conjunctival hyperemia | HPO |
| deep dermal perivascular inflammatory infiltrate | HPO |
| delayed puberty | Orphanet |
| increased total leukocyte count | HPO |
| rash may or may not be pruritic | OMIM® |
| abnormal palate morphology | Orphanet |
| aphthous ulcers | OMIM® |
| arthralgia | HPO |
| renal insufficiency | HPO |
| restrictive ventilatory defect | HPO |
| conjunctivitis, episodic | OMIM® |
| glaucoma | Orphanet |
| renal failure | OMIM® |
| vasculitis | HPO |
| abnormality of the nose | HPO |
| headache | HPO |
| increased intracranial pressure | HPO |
| macrocephaly | Orphanet |
| cranial nerve paralysis | Orphanet |
| increased il6, episodic | OMIM® |
| short stature | HPO |
| maculopapular exanthema | HPO |
| fever, episodic | OMIM® |
| maculopapular rash, episodic | OMIM® |
Additional disorder information
Aliases
MWSUrticaria-Deafness-Amyloidosis SyndromeUda SyndromeCryopyrin-Associated Periodic Syndrome 2Caps2Neutrophilic UrticariaUrticaria-Deafness-AmyloidosisFamilial Amyloid Nephropathy With Urticaria And DeafnessCryopyrin-Associated Periodic Syndromes
External resources
GeneReviews
Expert-authored clinical summary for NLRP3 (NCBI Bookshelf)Genetic Testing Registry (GTR)
Available genetic tests for this conditionOMIM®
Clinical synopsis and molecular geneticsOrphanet
Rare-disease summary and epidemiologyMonarch Initiative
Cross-species disease knowledge graphPubMed
Latest literature on this gene and disorder
05
Phenotype
Clinical features
06
ClinVar and variant evidence
Genetic basis
261 clinical variant(s)
Variant spectrum by molecular consequence
Missense 149Intronic 55Synonymous 545′UTR 223′UTR 5Nonsense 4Splice donor 2Frameshift 1Splice acceptor 1
Categories are non-exclusive: a variant with more than one molecular consequence is counted under each, so these counts can exceed the variant total. Variants with no reported consequence are omitted here.
Reported origin: Germline (255) · De novo (1). A variant may report more than one origin (counted under each); “Unknown / Not provided” is excluded.
Clinical variants
261 variants
261 Variant(s) for NLRP3 - Muckle-Wells Syndrome:
| Details | Rs Number | ClinVar ID | Name | Clinical Significance | Nucleotide Change | Protein Change | Review confidence |
|---|---|---|---|---|---|---|---|
| 151344629 | 97909 | NM_001243133.2(NLRP3):c.1043C>T (p.Thr348Met) | Pathogenic | C/T | T348M | ||
| 121908149 | 4373 | NM_001243133.2(NLRP3):c.1055C>T (p.Ala352Val) | Pathogenic | C/T | A352V | ||
| 28937896 | 4379 | NM_001243133.2(NLRP3):c.1058T>C (p.Leu353Pro) | Pathogenic | T/C | L353P | ||
| 121908146 | 4370 | NM_001243133.2(NLRP3):c.1316C>T (p.Ala439Val) | Pathogenic | C/T | A439V | ||
| 121908151 | 4375 | NM_001243133.2(NLRP3):c.1705G>C (p.Gly569Arg) | Pathogenic | G/C | G569R | ||
| 121908150 | 4374 | NM_001243133.2(NLRP3):c.778C>T (p.Arg260Ter) | Pathogenic | C/T | |||
| 121908153 | 4377 | NM_001243133.2(NLRP3):c.907G>A (p.Asp303Asn) | Pathogenic | G/A | D303N | ||
| 180177470 | 97987 | NM_001243133.2(NLRP3):c.931G>A (p.Glu311Lys) | Pathogenic | G/A | E311K | ||
| 2527274077 | 2579697 | NM_001243133.2(NLRP3):c.1712T>G (p.Leu571Trp) | Likely pathogenic | T/G | L571W | ||
| 180177435 | 97953 | NM_001243133.2(NLRP3):c.1985T>C (p.Met662Thr) | Likely pathogenic | T/C | M662T | ||
| 2103174031 | 1188124 | NM_001243133.2(NLRP3):c.2575T>C (p.Tyr859His) | Likely pathogenic | T/C | Y802H | ||
| 180177452 | 97960 | NM_001243133.2(NLRP3):c.2576A>G (p.Tyr859Cys) | Likely pathogenic | A/G | Y802C | ||
| 202234129 | 296934 | NM_001243133.2(NLRP3):c.-122T>C | Uncertain significance | T/C | |||
| 1042817230 | 296933 | NM_001243133.2(NLRP3):c.-203G>A | Uncertain significance | G/A | |||
| 1282180723 | 873837 | NM_001243133.2(NLRP3):c.-219G>A | Uncertain significance | G/A | |||
| 201966092 | 876675 | NM_001243133.2(NLRP3):c.-339C>T | Uncertain significance | C/T | |||
| 202203407 | 876674 | NM_001243133.2(NLRP3):c.-369G>A | Uncertain significance | G/A | |||
| 12741165 | 875680 | NM_001243133.2(NLRP3):c.-407C>T | Uncertain significance | C/T | |||
| 199475727 | 103034 | NM_001243133.2(NLRP3):c.-460G>A | Uncertain significance | G/A | |||
| 144128307 | 296930 | NM_001243133.2(NLRP3):c.-482dup | Uncertain significance | C/CT | |||
| 1662192950 | 874739 | NM_001243133.2(NLRP3):c.-523G>A | Uncertain significance | G/A | |||
| 141994679 | 296928 | NM_001243133.2(NLRP3):c.-533C>G | Uncertain significance | C/G | |||
| 200090360 | 296925 | NM_001243133.2(NLRP3):c.-629C>T | Uncertain significance | C/T | |||
| 768557674 | 296924 | NM_001243133.2(NLRP3):c.-685G>A | Uncertain significance | G/A | |||
| 201896158 | 876633 | NM_001243133.2(NLRP3):c.-686C>T | Uncertain significance | C/T | |||
| 201758466 | 296936 | NM_001243133.2(NLRP3):c.-68C>T | Uncertain significance | C/T | |||
| 199723383 | 296923 | NM_001243133.2(NLRP3):c.-710C>T | Uncertain significance | C/T | |||
| 202076321 | 296935 | NM_001243133.2(NLRP3):c.-74G>A | Uncertain significance | G/A | |||
| 1664758254 | 875106 | NM_001243133.2(NLRP3):c.*139T>G | Uncertain significance | T/G | |||
| 1664748029 | 874174 | NM_001243133.2(NLRP3):c.*2A>G | Uncertain significance | A/G | |||
| 369910640 | 429286 | NM_001243133.2(NLRP3):c.1021G>A (p.Glu341Lys) | Uncertain significance | G/A | E341K | ||
| 3583172 | NM_001243133.2(NLRP3):c.1040C>G (p.Thr347Ser) | Uncertain significance | C/G | T347S | |||
| 994458759 | 953918 | NM_001243133.2(NLRP3):c.1090C>A (p.Arg364=) | Uncertain significance | C/A | |||
| 994458759 | 536881 | NM_001243133.2(NLRP3):c.1090C>T (p.Arg364Trp) | Uncertain significance | C/T | R364W | ||
| 3583181 | NM_001243133.2(NLRP3):c.1091G>A (p.Arg364Gln) | Uncertain significance | G/A | R364Q | |||
| 199680838 | 836449 | NM_001243133.2(NLRP3):c.1153T>G (p.Ser385Ala) | Uncertain significance | T/G | S385A | ||
| 779193213 | 1061651 | NM_001243133.2(NLRP3):c.1158T>A (p.Asp386Glu) | Uncertain significance | T/A | D386E | ||
| 3583183 | NM_001243133.2(NLRP3):c.1200C>A (p.Asn400Lys) | Uncertain significance | C/A | N400K | |||
| 3583186 | NM_001243133.2(NLRP3):c.1204G>A (p.Val402Ile) | Uncertain significance | G/A | V402I | |||
| 201384608 | 875720 | NM_001243133.2(NLRP3):c.122G>A (p.Arg41Lys) | Uncertain significance | G/A | R41K | ||
| 3583190 | NM_001243133.2(NLRP3):c.1237T>G (p.Cys413Gly) | Uncertain significance | T/G | C413G | |||
| 3583197 | NM_001243133.2(NLRP3):c.1276A>G (p.Ser426Gly) | Uncertain significance | A/G | S426G | |||
| 1558185400 | 591795 | NM_001243133.2(NLRP3):c.127C>T (p.Gln43Ter) | Uncertain significance | C/T | |||
| 3583203 | NM_001243133.2(NLRP3):c.1313C>G (p.Thr438Ser) | Uncertain significance | C/G | T438S | |||
| 3583220 | NM_001243133.2(NLRP3):c.1362G>T (p.Gly454=) | Uncertain significance | G/T | ||||
| 191754224 | 1058144 | NM_001243133.2(NLRP3):c.1371G>T (p.Glu457Asp) | Uncertain significance | G/T | E457D | ||
| 764806756 | 1494812 | NM_001243133.2(NLRP3):c.1382G>A (p.Cys461Tyr) | Uncertain significance | G/A | C461Y | ||
| 762512734 | 940032 | NM_001243133.2(NLRP3):c.1384G>A (p.Ala462Thr) | Uncertain significance | G/A | A462T | ||
| 2527270643 | 2419632 | NM_001243133.2(NLRP3):c.1437A>T (p.Lys479Asn) | Uncertain significance | A/T | K479N | ||
| 2527270919 | 1981831 | NM_001243133.2(NLRP3):c.1462A>T (p.Arg488Trp) | Uncertain significance | A/T | R488W | ||
| 145268073 | 97934 | NM_001243133.2(NLRP3):c.1463G>A (p.Arg488Lys) | Uncertain significance | G/A | R488K | ||
| 180177474 | 97935 | NM_001243133.2(NLRP3):c.1484C>T (p.Ala495Val) | Uncertain significance | C/T | A495V | ||
| 3583263 | NM_001243133.2(NLRP3):c.1524G>C (p.Lys508Asn) | Uncertain significance | G/C | K508N | |||
| 1428174026 | 2920825 | NM_001243133.2(NLRP3):c.1535G>A (p.Cys512Tyr) | Uncertain significance | G/A | C512Y | ||
| 3583066 | NM_001243133.2(NLRP3):c.160A>G (p.Thr54Ala) | Uncertain significance | A/G | T54A | |||
| 200088340 | 1405363 | NM_001243133.2(NLRP3):c.1633C>G (p.Pro545Ala) | Uncertain significance | C/G | P545A | ||
| 139833874 | 536887 | NM_001243133.2(NLRP3):c.1639A>T (p.Ser547Cys) | Uncertain significance | A/T | S547C | ||
| 200258061 | 859919 | NM_001243133.2(NLRP3):c.1643G>A (p.Arg548His) | Uncertain significance | G/A | R548H | ||
| 748768461 | 1548717 | NM_001243133.2(NLRP3):c.1650G>A (p.Lys550=) | Uncertain significance | G/A | |||
| 3583299 | NM_001243133.2(NLRP3):c.1654C>G (p.Pro552Ala) | Uncertain significance | C/G | P552A | |||
| 180177461 | 97942 | NM_001243133.2(NLRP3):c.1669A>G (p.Thr557Ala) | Uncertain significance | A/G | T557A | ||
| 1366541794 | 1307911 | NM_001243133.2(NLRP3):c.169A>G (p.Ile57Val) | Uncertain significance | A/G | I57V | ||
| 1131691891 | 430301 | NM_001243133.2(NLRP3):c.172G>A (p.Asp58Asn) | Uncertain significance | G/A | D58N | ||
| 1662780194 | 2868208 | NM_001243133.2(NLRP3):c.1745T>A (p.Val582Glu) | Uncertain significance | T/A | V582E | ||
| 895366086 | 874999 | NM_001243133.2(NLRP3):c.1780T>C (p.Leu594=) | Uncertain significance | T/C | |||
| 745564372 | 570991 | NM_001243133.2(NLRP3):c.1814A>T (p.Glu605Val) | Uncertain significance | A/T | E605V | ||
| 876660973 | 234302 | NM_001243133.2(NLRP3):c.1839A>T (p.Lys613Asn) | Uncertain significance | A/T | K613N | ||
| 3583074 | NM_001243133.2(NLRP3):c.185A>T (p.Glu62Val) | Uncertain significance | A/T | E62V | |||
| 1024570390 | 971445 | NM_001243133.2(NLRP3):c.1918T>G (p.Phe640Val) | Uncertain significance | T/G | F640V | ||
| 1662794808 | 1507177 | NM_001243133.2(NLRP3):c.1921G>A (p.Val641Met) | Uncertain significance | G/A | V641M | ||
| 3583326 | NM_001243133.2(NLRP3):c.1933A>G (p.Met645Val) | Uncertain significance | A/G | M645V | |||
| 138061418 | 449000 | NM_001243133.2(NLRP3):c.1936G>T (p.Asp646Tyr) | Uncertain significance | G/T | D646Y | ||
| 201875324 | 945457 | NM_001243133.2(NLRP3):c.1970C>A (p.Thr657Asn) | Uncertain significance | C/A | T657N | ||
| 199885115 | 661151 | NM_001243133.2(NLRP3):c.2012G>C (p.Cys671Ser) | Uncertain significance | G/C | C671S | ||
| 3583338 | NM_001243133.2(NLRP3):c.2052C>A (p.Asn684Lys) | Uncertain significance | C/A | N684K | |||
| 3583345 | NM_001243133.2(NLRP3):c.2060A>G (p.Lys687Arg) | Uncertain significance | A/G | K687R | |||
| 117287351 | 946603 | NM_001243133.2(NLRP3):c.208G>C (p.Val70Leu) | Uncertain significance | G/C | V70L | ||
| 3583075 | NM_001243133.2(NLRP3):c.208G>T (p.Val70Leu) | Uncertain significance | G/T | V70L | |||
| 746678679 | 2187459 | NM_001243133.2(NLRP3):c.2090G>A (p.Arg697Gln) | Uncertain significance | G/A | R697Q | ||
| 781561828 | 625986 | NM_001243133.2(NLRP3):c.2098G>A (p.Asp700Asn) | Uncertain significance | G/A | D700N | ||
| 3583353 | NM_001243133.2(NLRP3):c.2103G>A (p.Met701Ile) | Uncertain significance | G/A | M701I | |||
| 200378519 | 583341 | NM_001243133.2(NLRP3):c.2120C>A (p.Pro707Gln) | Uncertain significance | C/A | P707Q | ||
| 765108346 | 655097 | NM_001243133.2(NLRP3):c.2150+4A>G | Uncertain significance | A/G | |||
| 148590318 | 1980427 | NM_001243133.2(NLRP3):c.2185C>T (p.Arg729Trp) | Uncertain significance | C/T | R729W | ||
| 780246397 | 953975 | NM_001243133.2(NLRP3):c.2244C>G (p.Asp748Glu) | Uncertain significance | C/G | D748E | ||
| 1305028279 | 874123 | NM_001243133.2(NLRP3):c.2255G>A (p.Gly752Glu) | Uncertain significance | G/A | G752E | ||
| 3583375 | NM_001243133.2(NLRP3):c.2258A>T (p.Asp753Val) | Uncertain significance | A/T | D753V | |||
| 201466599 | 853955 | NM_001243133.2(NLRP3):c.2270G>C (p.Arg757Thr) | Uncertain significance | G/C | R757T | ||
| 770791406 | 1446237 | NM_001243133.2(NLRP3):c.2273T>C (p.Val758Ala) | Uncertain significance | T/C | V758A | ||
| 759466218 | 1350441 | NM_001243133.2(NLRP3):c.2285C>T (p.Thr762Met) | Uncertain significance | C/T | T762M | ||
| 866534904 | 234299 | NM_001243133.2(NLRP3):c.2299G>A (p.Gly767Ser) | Uncertain significance | G/A | G767S | ||
| 3583390 | NM_001243133.2(NLRP3):c.2321+1G>A | Uncertain significance | G/A | ||||
| 3583394 | NM_001243133.2(NLRP3):c.2322-8G>T | Uncertain significance | G/T | ||||
| 1663599540 | 1467929 | NM_001243133.2(NLRP3):c.2330G>A (p.Arg777His) | Uncertain significance | G/A | R720H | ||
| 768252357 | 995662 | NM_001243133.2(NLRP3):c.2336G>A (p.Gly779Asp) | Uncertain significance | G/A | G722D | ||
| 201969526 | 1468395 | NM_001243133.2(NLRP3):c.2342C>T (p.Ser781Leu) | Uncertain significance | C/T | S724L | ||
| 202232879 | 873888 | NM_001243133.2(NLRP3):c.234G>A (p.Arg78=) | Uncertain significance | G/A | |||
| 2103162719 | 3065149 | NM_001243133.2(NLRP3):c.2371G>T (p.Val791Phe) | Uncertain significance | G/T | V734F | ||
| 1064797023 | 3064558 | NM_001243133.2(NLRP3):c.2377A>T (p.Ser793Cys) | Uncertain significance | A/T | S736C | ||
| 2103162880 | 1350883 | NM_001243133.2(NLRP3):c.2387A>G (p.Gln796Arg) | Uncertain significance | A/G | Q739R | ||
| 756392002 | 234474 | NM_001243133.2(NLRP3):c.2392C>A (p.Leu798Met) | Uncertain significance | C/A | L741M | ||
| 3583399 | NM_001243133.2(NLRP3):c.2493-6T>C | Uncertain significance | T/C | ||||
| 1351993448 | 706519 | NM_001243133.2(NLRP3):c.2505C>T (p.Cys835=) | Uncertain significance | C/T | |||
| 1409419107 | 1496785 | NM_001243133.2(NLRP3):c.2530G>T (p.Asp844Tyr) | Uncertain significance | G/T | D787Y | ||
| 773376112 | 234303 | NM_001243133.2(NLRP3):c.2536G>C (p.Ala846Pro) | Uncertain significance | G/C | A789P | ||
| 1248156475 | 787085 | NM_001243133.2(NLRP3):c.2571A>G (p.Arg857=) | Uncertain significance | A/G | |||
| 1057515488 | 296953 | NM_001243133.2(NLRP3):c.2632A>G (p.Lys878Glu) | Uncertain significance | A/G | K821E | ||
| 1663776046 | 933917 | NM_001243133.2(NLRP3):c.2638C>T (p.Pro880Ser) | Uncertain significance | C/T | P823S | ||
| 3766508 | NM_001243133.2(NLRP3):c.2664-1G>A | Uncertain significance | G/A | ||||
| 1157282902 | 1051337 | NM_001243133.2(NLRP3):c.2680C>T (p.Leu894Phe) | Uncertain significance | C/T | L780F | ||
| 3583404 | NM_001243133.2(NLRP3):c.2684C>T (p.Thr895Met) | Uncertain significance | C/T | T781M | |||
| 151205016 | 946043 | NM_001243133.2(NLRP3):c.2686T>C (p.Ser896Pro) | Uncertain significance | T/C | S782P | ||
| 200590698 | 2154466 | NM_001243133.2(NLRP3):c.2711C>T (p.Ser904Leu) | Uncertain significance | C/T | S790L | ||
| 1386781990 | 2636210 | NM_001243133.2(NLRP3):c.2752C>T (p.Arg918Ter) | Uncertain significance | C/T | |||
| 200089542 | 234451 | NM_001243133.2(NLRP3):c.2761A>G (p.Thr921Ala) | Uncertain significance | A/G | T807A | ||
| 3583436 | NM_001243133.2(NLRP3):c.2762C>T (p.Thr921Ile) | Uncertain significance | C/T | T807I | |||
| 3583443 | NM_001243133.2(NLRP3):c.2769A>T (p.Gly923=) | Uncertain significance | A/T | ||||
| 3583450 | NM_001243133.2(NLRP3):c.2773A>C (p.Lys925Gln) | Uncertain significance | A/C | K811Q | |||
| 876660975 | 234307 | NM_001243133.2(NLRP3):c.2784A>C (p.Lys928Asn) | Uncertain significance | A/C | K814N | ||
| 3583456 | NM_001243133.2(NLRP3):c.2798G>T (p.Gly933Val) | Uncertain significance | G/T | G819V | |||
| 201260331 | 1694436 | NM_001243133.2(NLRP3):c.2812G>A (p.Asp938Asn) | Uncertain significance | G/A | D824N | ||
| 199878892 | 1359124 | NM_001243133.2(NLRP3):c.2827G>C (p.Val943Leu) | Uncertain significance | G/C | V829L | ||
| 1572228102 | 827985 | NM_001243133.2(NLRP3):c.2834+1G>A | Uncertain significance | G/A | |||
| 3583466 | NM_001243133.2(NLRP3):c.2835A>T (p.Glu945Asp) | Uncertain significance | A/T | E831D | |||
| 372087108 | 2145633 | NM_001243133.2(NLRP3):c.2860C>T (p.His954Tyr) | Uncertain significance | C/T | H840Y | ||
| 1057515531 | 296938 | NM_001243133.2(NLRP3):c.28A>C (p.Arg10=) | Uncertain significance | A/C | |||
| 1450171900 | 651300 | NM_001243133.2(NLRP3):c.2908C>T (p.Arg970Ter) | Uncertain significance | C/T | |||
| 1247641472 | 1001047 | NM_001243133.2(NLRP3):c.2912A>C (p.Lys971Thr) | Uncertain significance | A/C | K857T | ||
| 375013904 | 874838 | NM_001243133.2(NLRP3):c.292C>G (p.Arg98Gly) | Uncertain significance | C/G | R100G | ||
| 778650629 | 805093 | NM_001243133.2(NLRP3):c.2951T>A (p.Val984Asp) | Uncertain significance | T/A | V870D | ||
| 3583478 | NM_001243133.2(NLRP3):c.3005+4A>G | Uncertain significance | A/G | ||||
| 3358850 | NM_001243133.2(NLRP3):c.3013G>A (p.Glu1005Lys) | Uncertain significance | G/A | E1005K | |||
| 771315000 | 234308 | NM_001243133.2(NLRP3):c.3037A>G (p.Lys1013Glu) | Uncertain significance | A/G | K1013E | ||
| 1057515489 | 296954 | NM_001243133.2(NLRP3):c.3042T>C (p.Ser1014=) | Uncertain significance | T/C | |||
| 143548979 | 711518 | NM_001243133.2(NLRP3):c.3048A>C (p.Leu1016Phe) | Uncertain significance | A/C | L1016F | ||
| 3583486 | NM_001243133.2(NLRP3):c.3067A>C (p.Lys1023Gln) | Uncertain significance | A/C | K1023Q | |||
| 775502273 | 1489473 | NM_001243133.2(NLRP3):c.3080C>T (p.Thr1027Ile) | Uncertain significance | C/T | T1027I | ||
| 1298618908 | 1023272 | NM_001243133.2(NLRP3):c.3094C>A (p.Pro1032Thr) | Uncertain significance | C/A | P1032T | ||
| 202050558 | 1308186 | NM_001243133.2(NLRP3):c.329G>A (p.Ser110Asn) | Uncertain significance | G/A | S110N | ||
| 3583076 | NM_001243133.2(NLRP3):c.350G>A (p.Gly117Asp) | Uncertain significance | G/A | G117D | |||
| 188623199 | 234287 | NM_001243133.2(NLRP3):c.386A>G (p.Lys129Arg) | Uncertain significance | A/G | K129R | ||
| 201165941 | 1023990 | NM_001243133.2(NLRP3):c.397+6C>T | Uncertain significance | C/T | |||
| 3583080 | NM_001243133.2(NLRP3):c.398-11C>T | Uncertain significance | C/T | ||||
| 3583083 | NM_001243133.2(NLRP3):c.398-5C>G | Uncertain significance | C/G | ||||
| 201525433 | 843485 | NM_001243133.2(NLRP3):c.403C>T (p.Arg135Cys) | Uncertain significance | C/T | R135C | ||
| 138946894 | 234288 | NM_001243133.2(NLRP3):c.404G>A (p.Arg135His) | Uncertain significance | G/A | R135H | ||
| 3583089 | NM_001243133.2(NLRP3):c.404G>C (p.Arg135Pro) | Uncertain significance | G/C | R135P | |||
| 1284696978 | 2310401 | NM_001243133.2(NLRP3):c.424G>A (p.Val142Met) | Uncertain significance | G/A | V142M | ||
| 199475733 | 103046 | NM_001243133.2(NLRP3):c.488A>G (p.Asn163Ser) | Uncertain significance | A/G | N163S | ||
| 3583094 | NM_001243133.2(NLRP3):c.494G>A (p.Arg165His) | Uncertain significance | G/A | R165H | |||
| 180177464 | 97963 | NM_001243133.2(NLRP3):c.503G>A (p.Arg168Gln) | Uncertain significance | G/A | R168Q | ||
| 747885829 | 1694438 | NM_001243133.2(NLRP3):c.508C>T (p.Arg170Cys) | Uncertain significance | C/T | R170C | ||
| 201867990 | 1303903 | NM_001243133.2(NLRP3):c.526C>T (p.Arg176Trp) | Uncertain significance | C/T | R176W | ||
| 3583097 | NM_001243133.2(NLRP3):c.533A>T (p.Gln178Leu) | Uncertain significance | A/T | Q178L | |||
| 147631017 | 952546 | NM_001243133.2(NLRP3):c.564C>A (p.Ile188=) | Uncertain significance | C/A | |||
| 201877163 | 873944 | NM_001243133.2(NLRP3):c.565G>A (p.Gly189Ser) | Uncertain significance | G/A | G189S | ||
| 3583100 | NM_001243133.2(NLRP3):c.567C>T (p.Gly189=) | Uncertain significance | C/T | ||||
| 121908147 | 4371 | NM_001243133.2(NLRP3):c.592G>A (p.Val198Met) | Uncertain significance | G/A | V198M | ||
| 3583103 | NM_001243133.2(NLRP3):c.620T>C (p.Phe207Ser) | Uncertain significance | T/C | F207S | |||
| 3583106 | NM_001243133.2(NLRP3):c.635A>G (p.Glu212Gly) | Uncertain significance | A/G | E212G | |||
| 150396172 | 449120 | NM_001243133.2(NLRP3):c.638A>G (p.His213Arg) | Uncertain significance | A/G | H213R | ||
| 1193199652 | 1515565 | NM_001243133.2(NLRP3):c.673G>T (p.Ala225Ser) | Uncertain significance | G/T | A225S | ||
| 770294045 | 1301429 | NM_001243133.2(NLRP3):c.717G>T (p.Leu239Phe) | Uncertain significance | G/T | L239F | ||
| 876660971 | 234298 | NM_001243133.2(NLRP3):c.743A>G (p.Gln248Arg) | Uncertain significance | A/G | Q248R | ||
| 3583110 | NM_001243133.2(NLRP3):c.781G>A (p.Glu261Lys) | Uncertain significance | G/A | E261K | |||
| 1662689287 | 1980828 | NM_001243133.2(NLRP3):c.800A>G (p.Gln267Arg) | Uncertain significance | A/G | Q267R | ||
| 3583117 | NM_001243133.2(NLRP3):c.814del (p.Asp272fs) | Uncertain significance | TG/T | ||||
| 1299635566 | 3014842 | NM_001243133.2(NLRP3):c.838G>A (p.Asp280Asn) | Uncertain significance | G/A | D280N | ||
| 145092553 | 1364715 | NM_001243133.2(NLRP3):c.865G>A (p.Val289Met) | Uncertain significance | G/A | V289M | ||
| 3583132 | NM_001243133.2(NLRP3):c.880A>G (p.Arg294Gly) | Uncertain significance | A/G | R294G | |||
| 201504984 | 806417 | NM_001243133.2(NLRP3):c.901G>T (p.Gly301Cys) | Uncertain significance | G/T | G301C | ||
| 3583148 | NM_001243133.2(NLRP3):c.949T>G (p.Cys317Gly) | Uncertain significance | T/G | C317G | |||
| 1662708025 | 876817 | NM_001243133.2(NLRP3):c.964A>G (p.Lys322Glu) | Uncertain significance | A/G | K322E | ||
| 1662708283 | 1441675 | NM_001243133.2(NLRP3):c.968C>T (p.Ala323Val) | Uncertain significance | C/T | A323V | ||
| 3583159 | NM_001243133.2(NLRP3):c.973C>G (p.Arg325Gly) | Uncertain significance | C/G | R325G | |||
| 202077909 | 2536252 | NM_001243133.2(NLRP3):c.985C>G (p.Leu329Val) | Uncertain significance | C/G | L329V | ||
| 3583167 | NM_001243133.2(NLRP3):c.995G>T (p.Ser332Ile) | Uncertain significance | G/T | S332I | |||
| 886506882 | 296957 | NM_004895.4(NLRP3):c.*324_*327delGTCT | Uncertain significance | CTCTG/C | |||
| 1057515460 | 296958 | NM_004895.4(NLRP3):c.*328_*331delAACT | Uncertain significance | TCTAA/T | |||
| 1664772078 | 876055 | NM_004895.4(NLRP3):c.*378A>C | Uncertain significance | A/C | |||
| 1296786716 | 877015 | NM_004895.4(NLRP3):c.*431G>A | Uncertain significance | G/A | |||
| 1057515532 | 296962 | NM_004895.4(NLRP3):c.*604A>C | Uncertain significance | A/C | |||
| 139852370 | 296946 | NM_001243133.2(NLRP3):c.1245C>T (p.Ile415=) | Likely benign | C/T | |||
| 199696688 | 296947 | NM_001243133.2(NLRP3):c.1361G>A (p.Gly454Glu) | Likely benign | G/A | G454E | ||
| 141637807 | 138531 | NM_001243133.2(NLRP3):c.1401C>T (p.Leu467=) | Likely benign | C/T | |||
| 199687987 | 1107892 | NM_001243133.2(NLRP3):c.147T>C (p.His49=) | Likely benign | T/C | |||
| 201003943 | 2162721 | NM_001243133.2(NLRP3):c.1536C>T (p.Cys512=) | Likely benign | C/T | |||
| 756547568 | 1167284 | NM_001243133.2(NLRP3):c.1623G>A (p.Arg541=) | Likely benign | G/A | |||
| 199856287 | 418133 | NM_001243133.2(NLRP3):c.1625C>T (p.Thr542Met) | Likely benign | C/T | T542M | ||
| 144469697 | 296948 | NM_001243133.2(NLRP3):c.1645T>C (p.Leu549=) | Likely benign | T/C | |||
| 151097783 | 750202 | NM_001243133.2(NLRP3):c.1665C>T (p.Asp555=) | Likely benign | C/T | |||
| 201205620 | 386615 | NM_001243133.2(NLRP3):c.195G>A (p.Ala65=) | Likely benign | G/A | |||
| 765198709 | 1609188 | NM_001243133.2(NLRP3):c.2058C>T (p.Pro686=) | Likely benign | C/T | |||
| 117287351 | 245593 | NM_001243133.2(NLRP3):c.208G>A (p.Val70Met) | Likely benign | G/A | V70M | ||
| 368389907 | 1225261 | NM_001243133.2(NLRP3):c.2150+16T>C | Likely benign | T/C | |||
| 116546330 | 245595 | NM_001243133.2(NLRP3):c.2151-7T>C | Likely benign | T/C | |||
| 201102829 | 389680 | NM_001243133.2(NLRP3):c.2172T>A (p.Thr724=) | Likely benign | T/A | |||
| 147946775 | 234290 | NM_001243133.2(NLRP3):c.2176A>G (p.Ser726Gly) | Likely benign | A/G | S726G | ||
| 201980166 | 469049 | NM_001243133.2(NLRP3):c.219C>T (p.Phe73=) | Likely benign | C/T | |||
| 150229101 | 296951 | NM_001243133.2(NLRP3):c.2301C>G (p.Gly767=) | Likely benign | C/G | |||
| 371752834 | 246348 | NM_001243133.2(NLRP3):c.2321+11G>A | Likely benign | G/A | |||
| 199746830 | 506660 | NM_001243133.2(NLRP3):c.2492+13C>T | Likely benign | C/T | |||
| 201867582 | 234304 | NM_001243133.2(NLRP3):c.2611G>A (p.Ala871Thr) | Likely benign | G/A | A814T | ||
| 138089800 | 469051 | NM_001243133.2(NLRP3):c.2703T>G (p.Ala901=) | Likely benign | T/G | |||
| 145787821 | 1096997 | NM_001243133.2(NLRP3):c.2709C>G (p.Ser903=) | Likely benign | C/G | |||
| 765925466 | 234305 | NM_001243133.2(NLRP3):c.2738C>T (p.Thr913Met) | Likely benign | C/T | T799M | ||
| 139814109 | 234293 | NM_001243133.2(NLRP3):c.2855C>T (p.Thr952Met) | Likely benign | C/T | T838M | ||
| 200474558 | 1013562 | NM_001243133.2(NLRP3):c.2856G>A (p.Thr952=) | Likely benign | G/A | |||
| 148150585 | 946684 | NM_001243133.2(NLRP3):c.2982G>C (p.Gln994His) | Likely benign | G/C | Q880H | ||
| 199822721 | 138527 | NM_001243133.2(NLRP3):c.309T>C (p.Thr103=) | Likely benign | T/C | |||
| 750104265 | 515730 | NM_001243133.2(NLRP3):c.369G>A (p.Ser123=) | Likely benign | G/A | |||
| 374170024 | 876773 | NM_001243133.2(NLRP3):c.476G>T (p.Ser159Ile) | Likely benign | G/T | S159I | ||
| 76291085 | 2186943 | NM_001243133.2(NLRP3):c.578C>A (p.Thr193Lys) | Likely benign | C/A | T193K | ||
| 3806268 | 761839 | NM_001243133.2(NLRP3):c.726G>T (p.Ala242=) | Likely benign | G/T | |||
| 180177462 | 97990 | NM_001243133.2(NLRP3):c.944C>T (p.Pro315Leu) | Likely benign | C/T | P315L | ||
| 138900557 | 296932 | NM_001243133.2(NLRP3):c.-231G>A | Benign | G/A | |||
| 73136263 | 296937 | NM_001243133.2(NLRP3):c.-40G>T | Benign | G/T | |||
| 7523422 | 296931 | NM_001243133.2(NLRP3):c.-411T>C | Benign | T/C | |||
| 141994679 | 296929 | NM_001243133.2(NLRP3):c.-533C>T | Benign | C/T | |||
| 116502550 | 296927 | NM_001243133.2(NLRP3):c.-543A>T | Benign | A/T | |||
| 72771992 | 296926 | NM_001243133.2(NLRP3):c.-561T>G | Benign | T/G | |||
| 199713471 | 874175 | NM_001243133.2(NLRP3):c.*116G>T | Benign | G/T | |||
| 796764638 | 296955 | NM_001243133.2(NLRP3):c.*177del | Benign | TC/T | |||
| 10754558 | 296956 | NM_001243133.2(NLRP3):c.*230G>C | Benign | G/C | |||
| 41311573 | 218548 | NM_001243133.2(NLRP3):c.1020C>T (p.Pro340=) | Benign | C/T | |||
| 180177471 | 97908 | NM_001243133.2(NLRP3):c.1032G>A (p.Leu344=) | Benign | G/A | |||
| 143140947 | 138530 | NM_001243133.2(NLRP3):c.1044G>A (p.Thr348=) | Benign | G/A | |||
| 138613962 | 296945 | NM_001243133.2(NLRP3):c.1119G>A (p.Glu373=) | Benign | G/A | |||
| 148478875 | 97918 | NM_001243133.2(NLRP3):c.1231C>T (p.Leu411=) | Benign | C/T | |||
| 34298354 | 259560 | NM_001243133.2(NLRP3):c.1302C>T (p.Ser434=) | Benign | C/T | |||
| 180177481 | 97929 | NM_001243133.2(NLRP3):c.1374C>T (p.His458=) | Benign | C/T | |||
| 111400208 | 97931 | NM_001243133.2(NLRP3):c.1389C>T (p.His463=) | Benign | C/T | |||
| 756162800 | 765309 | NM_001243133.2(NLRP3):c.1440C>A (p.Ile480=) | Benign | C/A | |||
| 201644343 | 138532 | NM_001243133.2(NLRP3):c.1584C>T (p.Ala528=) | Benign | C/T | |||
| 116054301 | 97940 | NM_001243133.2(NLRP3):c.1600C>T (p.Leu534=) | Benign | C/T | |||
| 34698071 | 138533 | NM_001243133.2(NLRP3):c.1920C>T (p.Phe640=) | Benign | C/T | |||
| 763252989 | 296939 | NM_001243133.2(NLRP3):c.194C>G (p.Ala65Gly) | Benign | C/G | A65G | ||
| 147559626 | 296940 | NM_001243133.2(NLRP3):c.203T>C (p.Met68Thr) | Benign | T/C | M68T | ||
| 200082602 | 138526 | NM_001243133.2(NLRP3):c.207C>T (p.Ala69=) | Benign | C/T | |||
| 35829419 | 259561 | NM_001243133.2(NLRP3):c.2107C>A (p.Gln703Lys) | Benign | C/A | Q703K | ||
| 149493236 | 138534 | NM_001243133.2(NLRP3):c.2118C>T (p.Leu706=) | Benign | C/T | |||
| 148590318 | 296949 | NM_001243133.2(NLRP3):c.2185C>A (p.Arg729=) | Benign | C/A | |||
| 183128734 | 296950 | NM_001243133.2(NLRP3):c.2214C>T (p.Ser738=) | Benign | C/T | |||
| 147154764 | 296952 | NM_001243133.2(NLRP3):c.2424C>T (p.Leu808=) | Benign | C/T | |||
| 141389711 | 234291 | NM_001243133.2(NLRP3):c.2425G>A (p.Gly809Ser) | Benign | G/A | G752S | ||
| 143175395 | 875057 | NM_001243133.2(NLRP3):c.2433C>T (p.Phe811=) | Benign | C/T | |||
| 763106202 | 875986 | NM_001243133.2(NLRP3):c.2598A>G (p.Gly866=) | Benign | A/G | |||
| 577522959 | 296941 | NM_001243133.2(NLRP3):c.277+11G>A | Benign | G/A | |||
| 192297357 | 296942 | NM_001243133.2(NLRP3):c.397+7G>A | Benign | G/A | |||
| 200906786 | 875772 | NM_001243133.2(NLRP3):c.398-15C>T | Benign | C/T | |||
| 200459664 | 296943 | NM_001243133.2(NLRP3):c.398-5C>T | Benign | C/T | |||
| 56710146 | 296944 | NM_001243133.2(NLRP3):c.423C>T (p.Tyr141=) | Benign | C/T | |||
| 180177459 | 97965 | NM_001243133.2(NLRP3):c.587G>A (p.Ser196Asn) | Benign | G/A | S196N | ||
| 7525979 | 259562 | NM_001243133.2(NLRP3):c.657C>T (p.Thr219=) | Benign | C/T | |||
| 3806268 | 138528 | NM_001243133.2(NLRP3):c.726G>A (p.Ala242=) | Benign | G/A | |||
| 4925543 | 403243 | NM_001243133.2(NLRP3):c.780A>G (p.Arg260=) | Benign | A/G | |||
| 143840033 | 97986 | NM_001243133.2(NLRP3):c.930C>T (p.Asp310=) | Benign | C/T | |||
| 180177501 | 97989 | NM_001243133.2(NLRP3):c.937A>G (p.Ile313Val) | Benign | A/G | I313V | ||
| 397821684 | 296959 | NM_004895.4(NLRP3):c.*351dup | Benign | C/CT | |||
| 10802501 | 296960 | NM_004895.4(NLRP3):c.*396T>A | Benign | T/A | |||
| 10802502 | 296961 | NM_004895.4(NLRP3):c.*489C>T | Benign | C/T |
Sourced from [4]
07
Mechanism overlap
Shared mechanisms
Shared phenotype terms (HPO) 51
HPO terms annotated to both NLRP3 and Muckle-Wells Syndrome.
Abdominal painAbnormal palate morphologyAbnormality of metabolism/homeostasisAbnormality of the genital systemAbnormality of the noseAbnormality of the voiceAnemiaArthralgiaArthritisBroad footCamptodactyly of fingerChronic fatigueClubbing of fingersConjunctival hyperemiaConjunctivitisCranial nerve paralysisDeep dermal perivascular inflammatory infiltrateDelayed pubertyElevated circulating C-reactive protein concentrationElevated erythrocyte sedimentation rateEpiscleritisFeverGlaucomaHeadacheHearing impairmentHepatomegalyHernia of the abdominal wallIchthyosisIncreased intracranial pressureIncreased total leukocyte countMacrocephalyMaculopapular exanthemaMyalgiaNephropathyNephrotic syndromeOptic atrophyPapilledemaPes cavusPolyarticular arthritisProgressive sensorineural hearing impairment+ 11 more
08
Interventions
Therapeutics
Therapeutic annotations
Anakinra
Status: Approved, Investigational · 128 trial(s) · 14 indication(s)
Gene-targeting drugs
1 drugs
1 Drug(s) for NLRP3 - Muckle-Wells Syndrome:
| Details | Name | Class | # Indications | # Trials | References |
|---|---|---|---|---|---|
| Anakinra | Protein & Peptide Therapy | 0.00 | 0.00 |
09
Human studies
Clinical trials
1 of 128 trials target this disorder — the rest study NLRP3 compounds in other indications
A Long-Term Outcome Study With the IL-1 Receptor Antagonist Anakinra/Kineret in Patients With Neonatal Onset Multisystem Inflammatory Disease (NOMID/CINCA Syndrome) A Therapeutic Approach to Study the Pathogenesis of This DiseaseTargets this disorder
NCT00069329 · Terminated · PHASE2 · 2016-10-07
Efficacy and Safety of Firsekibart Versus Anakinra in Adult-Onset Still's DiseaseOther indication · NLRP3 compound
NCT07191444 · Recruiting · 2026-04-09
Randomized, Controlled, Double-blind Study of Anakinra Against Placebo in Addition to Steroids in Giant Cell ArteritisOther indication · NLRP3 compound
NCT02902731 · Terminated · PHASE3 · 2026-03-30
Targeted Reversal of Inflammation in Pediatric Sepsis-induced MODS (TRIPS)Other indication · NLRP3 compound
NCT05267821 · Recruiting · PHASE3 · 2026-03-11
IL-1 Receptor Antagonist to Prevent Severe Chimeric Antigen Receptor T-Cell Related Encephalopathy SyndromeOther indication · NLRP3 compound
NCT04205838 · Terminated · PHASE2 · 2026-02-25
Clinical trial records
128 records
128 Clinical Trial(s) for NLRP3 - Muckle-Wells Syndrome:
| Accession | Title | Phase | Status | Conditions | Targets Disorder |
|---|---|---|---|---|---|
| NCT06381661 | PALETTE- Adaptive Platform Trial for Personnalisation of Sepsis Treatment in Children and Adults: a Multi-national, Treatable Traits-guided, Adaptive, Exploratory, Bayesian Basket Trial | PHASE2 | Not yet recruiting | Sepsis | — |
| NCT07138898 | Immunosuppressant Management in Rheumatology Patients Undergoing Elective Total Shoulder Arthroplasty | PHASE2 | Not yet recruiting | Rheumatic Disease | — |
| NCT02550327 | A Pilot Study of Gemcitabine, Nab-Paclitaxel, Cisplatin and Anakinra Treatment on Patients With Resectable or Potentially Resectable Pancreatic Adenocarcinoma (PDAC) | EARLY_PHASE1 | Completed | Pancreatic Adenocarcinoma | — |
| NCT03511118 | Pharmacokinetics and Safety of Commonly Used Drugs in Lactating Women and Breastfed Infants | Recruiting | Lactating Women on Select DOI; Breastfed Infants of Mothers on Select DOI | — | |
| NCT02735707 | Randomized, Embedded, Multifactorial Adaptive Platform Trial for Community- Acquired Pneumonia | PHASE3 | Recruiting | Community-acquired Pneumonia, Influenza, COVID-19 | — |
| NCT04381936 | Randomised Evaluation of COVID-19 Therapy | PHASE3 | Recruiting | Severe Acute Respiratory Syndrome | — |
| NCT02492750 | Phase I/II Double Blind Randomized Trial of Lenalidomide/Dexamethasone/Anakinra vs. Lenalidomide/Dexamethasone/Placebo in Patients With Early Stage Multiple Myeloma and High Plasma Cell Growth Rate | PHASE1 | Completed | Indolent Plasma Cell Myeloma; Plasma Cell Myeloma; Smoldering Plasma Cell Myeloma | — |
| NCT01809132 | Double-blind Randomized Controlled Trial of Anakinra, Pentoxifylline, and Zinc Compared to Methylprednisolone in Severe Acute Alcoholic Hepatitis | PHASE3 | Completed | Acute Alcoholic Hepatitis | — |
| NCT04898231 | Multisystem Inflammatory Syndrome Therapies in Children (MISTIC) Comparative Effectiveness Study | PHASE3 | Completed | Multisystem Inflammatory Syndrome-Children | — |
| NCT06624436 | Immunomodulatory Effects of Dexamethasone, Tocilizumab and Anakinra During Experimental Human Endotoxemia | PHASE4 | Recruiting | Sepsis; Neuroinflammatory Response; Immunosuppresion; Endotoxemia; Anakinra; Dexamethasone; Tocilizumab | — |
| NCT05805930 | Therapeutic Approach in Colchicine-resistant Recurrent pEricarditis in Children: an Open-label Randomized Trial Comparing Anakinra vs sTEroids | PHASE3 | Not yet recruiting | Pericarditis | — |
| NCT04432506 | Pilot Study of Anakinra to Mitigate CAR-T Toxicity in Subjects With Relapsed or Refractory Large B-Cell Lymphoma | PHASE2 | Completed | Hematopoietic and Lymphoid Cell Neoplasm; Recurrent Diffuse Large B-Cell Lymphoma; Recurrent High Grade B-Cell Lymphoma; Recurrent Primary Mediastinal (Thymic) Large B-Cell Lymphoma; Recurrent Transfo... | — |
| NCT04227275 | A Phase 1 Open-Label, Multi-Center Study of PSMA Targeted Genetically Modified Chimeric Antigen Receptor T Cells in Patients With Metastatic Castration Resistant Prostate Cancer | PHASE1 | Terminated | Metastatic Castration-resistant Prostate Cancer | — |
| NCT03651518 | Personalized Targeted Therapies in Inflammatory Complex Multi Organ Disease | PHASE2 | Recruiting | Inflammatory Disease; Autoimmune Diseases | — |
| NCT03797001 | The Effects of Interleukin-1 Blockade On Exercise Capacity In Patients With Recently Decompensated Systolic Heart Failure | PHASE2 | Completed | Heart Failure, Systolic; Inflammation | — |
| NCT04017936 | Interleukin-1 Blockade for Treatment of Cardiac Sarcoidosis | PHASE2 | Completed | Cardiac Sarcoidosis | — |
| NCT00332254 | IL-1ra for Prevention of Chondropathy Following Knee Injury | PHASE2 | Completed | Knee Injury | — |
| NCT00420290 | Inflammation, Proteolysis and IL-1 Beta Receptor Inhibition in Chronic Hemodialysis Patients | NA | Completed | End Stage Renal Disease | — |
| NCT00683345 | Fatigue and IL-1 Blockade in Primary Sjøgrens Syndrome | PHASE2 | Completed | Fatigue; Primary Sjogren | — |
| NCT06062966 | The Effects of IL-1 Blockade on Inotrope Sensitivity in Patients With Heart Failure (AID-HEART) | PHASE1 | Recruiting | Heart Failure | — |
| NCT01369017 | A Study of the Effect of Interleukin-1 Receptor Antagonist on Inhalation of 20,000 EU Clinical Center Reference Endotoxin in Normal Volunteers | PHASE1 | Completed | Healthy Control Subjects | — |
| NCT01285232 | The Effect of Interleukin-1 Receptor Antagonist on Insulin Secretion in Subjects With Beta Cell Dysfunction | NA | Unknown | Glucose Intolerance; Impaired Insulin Secretion; Diabetes Mellitus Type 2 | — |
| NCT01466764 | Immunomodulation, IL-1 Inhibition, and Postoperative Incisional Pain | NA | Terminated | Pain; Inflammation | — |
| NCT00303394 | Phase 2 Study of IL-1Ra in Patients With Type 2 Diabetes | PHASE2 | Completed | Type 2 Diabetes | — |
| NCT04018755 | Open-label Pilot Study of the Effects of Anakinra in Mucopolysaccharidosis (MPS) III | PHASE2 | Completed | Mucopolysaccharidosis III | — |
| NCT02263638 | Treatment of Refractory Hemochromatosis Rheumatism by Anakinra: a Preliminary Phase II Study | PHASE2 | Terminated | Refractory Hemochromatosis Rheumatism | — |
| NCT04136028 | A Retrospective Analysis of Efficacy and Safety of Interleukin-1 Receptor Inhibitor for the Treatment of Granulomatous Complications in Patients With Chronic Granulomatous Disease | EARLY_PHASE1 | Completed | Chronic Granulomatous Disease | — |
| NCT00072111 | Phase I Study of Anakinra Mediated Tumor Regression and Angiogenesis Inhibition in Subjects With Cancers Producing Interleukin-1 | PHASE1 | Completed | Unspecified Adult Solid Tumor, Protocol Specific | — |
| NCT02108210 | Cytokine Inhibition in Chronic Fatigue Syndrome Patients | PHASE3 | Completed | Chronic Fatigue Syndrome | — |
| NCT04544813 | A Phase 1 Study to Investigate the Pharmacokinetics and Pharmacodynamics of JNJ-77474462 in Healthy Participants | PHASE1 | Completed | Healthy | — |
| NCT04926467 | An Open Label, Phase II Study of Chemotherapy + Anakinra in Patients With Resectable, Locally Advanced or Potentially Resectable Pancreatic Adenocarcinoma (PDAC) | PHASE2 | Recruiting | Pancreatic Adenocarcinoma | — |
| NCT04324021 | A Phase 2/3, Randomized, Open-label, Parallel Group, 3-arm, Multicenter Study Investigating the Efficacy and Safety of Intravenous Administrations of Emapalumab, an Anti-interferon Gamma (Anti-IFNγ) M... | PHASE3 | Terminated | SARS-CoV-2 | — |
| NCT03513458 | Late Phase Administration Anakinra as a Rescue Treatment for Inhaled Allergen Challenge-Induced Airway Inflammation | PHASE2 | Withdrawn | Asthma | — |
| NCT04341584 | CORIMUNO-ANA: Trial Evaluating Efficacy Of Anakinra In Patients With Covid-19 Infection, Nested In The CORIMUNO-19 | PHASE2 | Completed | Corona Virus Infection | — |
| NCT03200782 | Postprandial Hypoglycemia in Patients After Bariatric Surgery With Empagliflozin and Anakinra - The Hypo-BEAR-Study | NA | Completed | Postprandial Hypoglycemia; Bariatric Surgery; Late Dumping Syndrome | — |
| NCT05814159 | A Randomized, Double-blind, Placebo-controlled, Multicenter, Phase 3 Efficacy and Safety Study of Subcutaneous Anakinra in Japanese Patients With Still's Disease (SJIA and AOSD) | PHASE3 | Active, not recruiting | Still's Disease, Juvenile Onset; Still's Disease, Adult-Onset | — |
| NCT00339157 | ANAkinra in Severe Juvenile Idiopathic Arthritis of Systemic Onset (ANAJIS) | PHASE3 | Completed | Systemic-Onset Juvenile Idiopathic Arthritis | — |
| NCT01033656 | An Open, Randomized Study Treating Refractory Adult-onset Still's Disease With Interleukin-1 Receptor Antagonist Anakinra (Kineret), Compared to an Established, Single Anti-rheumatic Drug Treatment | PHASE2 | Completed | Adult-Onset Still's Disease | — |
| NCT04357366 | suPAR-guided Anakinra Treatment for Validation of the Risk and Early Management of Severe Respiratory Failure by COVID-19: The SAVE Open-label, Non-randomized Single-arm Trial | PHASE2 | Completed | COVID-19; Virus Diseases; Corona Virus Infection; Lower Respiratory Tract Infection Viral | — |
| NCT05074485 | Discovery and Analytical Validation of Inflammatory Bio-signatures of the Human Pain Experience | PHASE1 | Recruiting | Pain | — |
| NCT03062176 | Interleukin-1 Blockade for the Treatment of Heart Failure in Patients With Advanced Chronic Kidney Disease (E-HART) | PHASE2 | Withdrawn | Heart Failure, Systolic; Renal Disease, End Stage; Chronic Kidney Diseases | — |
| NCT05177822 | Interleukin-1 Blockade in Acute Myocardial Infarction to Prevent Heart Failure: The Virginia - Anakinra Remodeling Trial 4 | PHASE2 | Recruiting | Heart Failure | — |
| NCT03233776 | Safety and Efficacy of Interleukin-1 Inhibitor Anakinra for the Amelioration of Fever During Neutropenia and Mucositis in Patients With Multiple Myeloma Receiving an Autologous Stem Cell Transplantati... | PHASE2 | Completed | Multiple Myeloma | — |
| NCT05498467 | The Role of Interleukin-1 Beta Targeted Therapy for Patients Suffering From Allergic Contact Dermatitis: A Randomized Controlled Trial With Anakinra vs. Placebo | PHASE3 | Completed | Allergic Contact Dermatitis | — |
| NCT00069329 | A Long-Term Outcome Study With the IL-1 Receptor Antagonist Anakinra/Kineret in Patients With Neonatal Onset Multisystem Inflammatory Disease (NOMID/CINCA Syndrome) A Therapeutic Approach to Study the... | PHASE2 | Terminated | Nervous System Malformations; Arthropathy, Neurogenic; Urticaria; Papilledema | Yes |
| NCT04025554 | Anakinra for the Treatment of Chronically Inflamed White Matter Lesions in Multiple Sclerosis | PHASE2 | Completed | Multiple Sclerosis | — |
| NCT00645840 | An Exploratory, Open Label Study of Anti-inflammatory Therapy With Anakinra in Children With Newly Diagnosed Type 1 Diabetes Mellitus | PHASE2 | Completed | Type 1 Diabetes Mellitus | — |
| NCT01566201 | The Effect of Inhibition of Interleukin-1 Activity on Vascular and Left Ventricular Function in Patients With Coronary Artery Disease and Coexistent Rheumatoid Arthritis | NA | Completed | Rheumatoid Arthritis; Coronary Artery Disease; Inflammation | — |
| NCT07281027 | Comparing the Effects of Anakinra and Tocilizumab on Outcomes in Patients With New-Onset Refractory Status Epilepticus | PHASE3 | Not yet recruiting | New Onset Refractory Status Epilepticus; New-Onset Refractory Status Epilepticus; Febrile Infection-Related Epilepsy Syndrome (FIRES) | — |
| NCT03513471 | Early Phase Administration of Anakinra as a Rescue Treatment for Inhaled Allergen Challenge-Induced Airway Inflammation | PHASE2 | Withdrawn | Asthma | — |
| NCT00537667 | A Single Centre, Open-Label, Randomised, Study to Evaluate the Effect of Anakinra (r-metHuIL-1ra) Alone and in Combination With PEGylated Recombinant Methionyl Human Soluble Tumour Necrosis Factor Rec... | PHASE2 | Terminated | Rheumatoid Arthritis | — |
| NCT07191444 | Efficacy and Safety of Firsekibart Versus Anakinra in Adult-Onset Still's Disease | Recruiting | Still's Disease, Adult-Onset | — | |
| NCT03182426 | Autologous Hematopoietic Stem Cell Mobilization (Plerixafor) and Immunologic Reset in New Onset Type 1 Diabetes Mellitus | PHASE2 | Completed | Diabetes Mellitus, Type 1 | — |
| NCT07410312 | BRIDGE - Blocking Receptor of IL-1β for Donor Graft Edema Reduction | EARLY_PHASE1 | Not yet recruiting | Lung Transplant Recipient | — |
| NCT03249207 | Does Interleukin-1 Receptor Antagonist Improve Outcome Following Aneurysmal Subarachnoid Haemorrhage (aSAH)? A Phase III Trial | PHASE3 | Unknown | Subarachnoid Hemorrhage | — |
| NCT01285245 | Effect of Interleukin-1 Receptor Antagonist on Insulin Sensitivity in Type 1 Diabetes Mellitus. | PHASE2 | Unknown | Diabetes Mellitus | — |
| NCT04680949 | suPAR-Guided Anakinra Treatment for Validation of the Risk and Early Management of Severe Respiratory Failure by COVID-19: The SAVE-MORE Double-blind, Randomized, Phase III Confirmatory Trial | PHASE3 | Completed | Covid19 | — |
| NCT03932344 | A Non-interventional, Post-authorization Safety Study (PASS) to Evaluate Long-term Safety of Anakinra (Kineret®) in Patients With Systemic Juvenile Idiopathic Arthritis | Completed | Still Disease, Juvenile Onset | — | |
| NCT01558375 | A Double-blind, Randomized, Placebo-controlled Clinical Trial of the Safety and Efficacy of Anakinra in Patients With Hidradenitis Suppurativa | PHASE2 | Completed | Hidradenitis Suppurativa | — |
| NCT02090101 | Phase II Study Evaluating the Influence of LV5FU2 Bevacizumab Plus Anakinra Association on Vascularization of Liver Metastases of Metastatic Colorectal Cancer: Proof of Concept Study | PHASE2 | Completed | Metastatic Colorectal Cancer | — |
| NCT02672592 | Effects of IL-1 Beta on the Hypothalamic-pituitary-gonadal (HPG) Axis in Men With Obesity and Metabolic Syndrome - The TestIL Trial | PHASE3 | Completed | Hypogonadism; Metabolic Syndrome X; Obesity | — |
| NCT01175018 | Anakinra to Prevent Adverse Post-infarction Remodeling (2) | PHASE2 | Completed | Acute Myocardial Infarction; Heart Failure | — |
| NCT03332225 | A Personalized Randomized Trial of Validation and Restoration of Immune Dysfunction in Severe Infections and Sepsis | PHASE2 | Completed | Sepsis; Macrophage Activation Syndrome | — |
| NCT05854251 | Hyperinsulinemia in Prediabetes Mediated by Interleukin-1β- The Hyper-PreDIL-Study | PHASE2 | Completed | Hyperinsulinemia; PreDiabetes | — |
| NCT06697431 | A Randomized, Controlled, Open-label, Non Inferiority KawasakI Trial With Anakinra | PHASE4 | Not yet recruiting | Kawasaki Disease; Anakinra | — |
| NCT02390596 | A Phase IIa Multicenter Trial to Assess the Efficacy, and Safety of Anakinra in Patients With Intravenous Immunoglobulin-resistant Kawasaki Disease | PHASE2 | Completed | Kawasaki Disease; Children | — |
| NCT00037648 | A Randomized, Multi-center, Blinded, Placebo-controlled Study With an Open-label Run-in Period to Evaluate the Efficacy, Safety, and Pharmacokinetics of Daily, Single, Subcutaneous Injections of r-met... | PHASE2 | Completed | Juvenile Chronic Arthritis | — |
| NCT02219828 | AnakInRa for Treatment of Recurrent Idiopathic Pericarditis | PHASE4 | Completed | Idiopathic Recurrent Pericarditis | — |
| NCT02414152 | A Phase I & II Open-label Study of the Effects of Anakinra (Kineret) in Corticosteroid-resistant Subjects With Sudden Sensorineural Heaing Loss (SSNHL) | PHASE2 | Terminated | Hearing Loss, Sudden | — |
| NCT06336733 | Randomized Controlled Trial in Patients on Long-term Colchicine With Colchicine-resistant Familial Mediterranean Fever (FMF) to Evaluate the Efficacy of On-demand Anakinra Treatment for Painful Attack... | PHASE3 | Recruiting | FMF | — |
| NCT01624766 | A Phase I Trial of Anakinra (IL-1 Receptor Antagonist) or Denosumab (Anti-RANKL Monoclonal Antibody) in Combination With Everolimus (mTOR Inhibitor) in Patients With Advanced Malignancies | PHASE1 | Completed | Advanced Malignant Neoplasm; Metastatic Malignant Neoplasm; Recurrent Malignant Neoplasm; Refractory Malignant Neoplasm | — |
| NCT01122914 | A Pilot Study Using Anakinra/Kineret for the Treatment of Patients With Severe Atopic Dermatitis | PHASE1 | Terminated | Anakinra; Kineret; Atopic Dermatitis; Eczema; Allergic Disease | — |
| NCT04330638 | A Prospective, Randomized, Factorial Design, Interventional Study to Compare the Safety and Efficacy of Combinations of Blockade of Interleukin-6 Pathway and Interleukin-1 Pathway to Best Standard of ... | PHASE3 | Completed | COVID-19 | — |
| NCT02902731 | Randomized, Controlled, Double-blind Study of Anakinra Against Placebo in Addition to Steroids in Giant Cell Arteritis | PHASE3 | Terminated | Giant Cell Arteritis | — |
| NCT02227420 | Effects of IL-1 Beta on the Hypothalamic-pituitary-adrenal (HPA) Axis in Obese Persons - the CortIL-Study | PHASE3 | Completed | Metabolic Syndrome; Hypersecretion; Cortisol | — |
| NCT04359784 | Phase 2 Pilot Study to Evaluate Efficacy and Safety of Anakinra to Prevent CD19-Targeted CAR-T Cell-Related Cytokine Release Syndrome (CRS) and Neurotoxicity in Patients With B Cell Lymphoma | PHASE2 | Completed | B-Cell Non-Hodgkin Lymphoma | — |
| NCT02916355 | Role of IL-1 in Postprandial Fatigue - The Chäschüechli 2 Study | NA | Completed | Adiposity | — |
| NCT04099901 | Anakinra: Efficacy of Anakinra for the Management of Fever During Neutropenia and Mucositis in Patients With Multiple Myeloma Receiving an Autologous Hematopoietic Stem Cell Transplantation After High... | PHASE2 | Completed | Multiple Myeloma | — |
| NCT05013450 | A Phase 1b/2 Trial of Dupilumab Given in Conjunction With PD-1 or PD-L1 Blockade and Anakinra in the Treatment of Relapsed/Refractory Metastatic NSCLC | PHASE2 | Active, not recruiting | Metastatic Non-small Cell Lung Cancer | — |
| NCT04035109 | Anakinra as a Rescue Treatment for Nasal Allergen Challenge-induced Airway Inflammation | PHASE2 | Withdrawn | Asthma, Allergic | — |
| NCT01705756 | A Randomized Placebo-Controlled Study of the Efficacy and Safety of Kineret (Anakinra), in Adult Patients With Colchicine-Resistant Familial Mediterranean Fever | PHASE3 | Completed | Familial Mediterranean Fever | — |
| NCT01771445 | Role of Interleukin-1 in the Regulation of Muscle Derived Interleukin-6 During Exercise | NA | Completed | Type 2 Diabetes | — |
| NCT03925194 | A Phase IIa, Randomized, Placebo-controlled, Double-blind, Cross-over Study to Evaluate Safety and Efficacy of Subcutaneous Administration of Anakinra in Patients With Cystic Fibrosis | PHASE2 | Recruiting | Cystic Fibrosis, 10011762 | — |
| NCT02915094 | Kineret in the Treatment of Rheumatoid Arthritis | Completed | Rheumatoid Arthritis | — | |
| NCT01277315 | Open Safety and Tolerability Trial to Evaluate a Subcutaneous Injection Solution of 100 mg of Anakinra in Combination With Riluzol in Amyotrophic Lateral Sclerosis | PHASE2 | Completed | Amyotrophic Lateral Sclerosis (ALS) | — |
| NCT00711503 | A Randomised Clinical Trial of the Effect of Interleukin-1 Receptor Antagonism on the Insulin Production in Patients With New Onset Type 1 Diabetes | PHASE3 | Completed | Type 1 Diabetes | — |
| NCT04339712 | Efficiency in Management of Organ Dysfunction Associated With Infection by the Novel SARS-CoV-2 Virus (COVID-19) Through a Personalized Immunotherapy Approach: the ESCAPE Clinical Trial | PHASE2 | Completed | COVID-19; Virus Diseases; Macrophage Activation Syndrome; Corona Virus Infection | — |
| NCT04691765 | A Phase 1 Trial of Anakinra in Previously Untreated Chronic Lymphocytic Leukemia Patients at Risk for Progression | PHASE1 | Unknown | Chronic Lymphocytic Leukemia | — |
| NCT04643678 | Efficacy of Anakinra in the Management of Patients With COVID-19 Infection in Qatar: A Randomized Clinical Trial | PHASE3 | Completed | Covid19; Pneumonia; Cytokine Release Syndrome; Corona Virus Infection; Viral Infection | — |
| NCT01300650 | Pilot Study of the Safety and Efficacy of Anakinra (Recombinant Human Interleukin-1 Receptor Antagonist) in Heart Failure | PHASE2 | Completed | Heart Failure | — |
| NCT05267821 | Targeted Reversal of Inflammation in Pediatric Sepsis-induced MODS (TRIPS) | PHASE3 | Recruiting | Pediatric Sepsis-induced Multiple Organ Dysfunction Syndrome (MODS) | — |
| NCT01441076 | A Pilot Study of Anakinra in Behcet's Disease (BD) | PHASE2 | Completed | Autoimmune Connective Tissue Disorder; Immune System Diseases | — |
| NCT01810549 | Role of Interleukin-1 in Postprandial Fatigue - The Cheesecake Study. A Randomized, Double-blind, Single Dose of Anakinra, Placebo-controlled, Cross-over Proof-of-concept Study. | PHASE1 | Completed | Postprandial Fatigue | — |
| NCT06666335 | A Prospective, Open-label, Single Arm, Multicenter, Post-authorization Efficacy and Safety Study of Subcutaneous Anakinra in Chinese Patients With Colchicine-resistant Familial Mediterranean Fever (FM... | PHASE4 | Not yet recruiting | Familial Mediterranean Fever (FMF ) | — |
| NCT05280340 | Advancing IL-1Ra to Prevent Inflammatory Disease in Preterm Infants - Pilot | PHASE2 | Active, not recruiting | Prematurity; Extreme; Inflammation | — |
| NCT03141983 | Anti-Cytokine Therapy for Hemodialysis InflammatION (ACTION): A Phase II Multi-center Study to Evaluate the Safety and Tolerability of Anakinra, an IL-1 Receptor Antagonist, for Patients Treated With ... | PHASE2 | Completed | End-Stage Renal Disease | — |
| NCT02527460 | Anakinra, a Recombinant Human IL-1 Receptor Antagonist for Neuroinflammation in HIV-1 Infection | PHASE1 | Terminated | HIV Infections; Neurologic Disorders | — |
| NCT03057028 | Pilot Study of the Safety and Efficacy of Anakinra in Pulmonary Arterial Hypertension | PHASE1 | Completed | Pulmonary Arterial Hypertension | — |
| NCT03383276 | A Phase 1, Dose Escalating Study of the Safety, Tolerability, and Pharmacokinetics of IL-1-Ra Topically Administered to Eyes of Healthy Adult Subjects | PHASE1 | Unknown | Blepharokeratoconjunctivitis | — |
| NCT03265132 | A Randomized, Double-blind, Placebo-controlled, Multicenter, Phase 3 Efficacy and Safety Study of 2 Dose Levels of Subcutaneous Anakinra (Kineret®) in Patients With Still's Disease (SJIA and AOSD) | PHASE3 | Terminated | Still's Disease, Adult-Onset; Still's Disease, Juvenile-Onset | — |
| NCT02278562 | Nutrition, Inflammation and Insulin Resistance in End-Stage Renal Disease | PHASE2 | Completed | ESRD | — |
| NCT01165008 | Anakinra in Patients With Refractory Idiopathic Inflammatory Myopathies | PHASE3 | Completed | Polymyositis; Dermatomyositis; Inclusion Body Myositis | — |
| NCT01794117 | A Phase 2 Study of Anakinra in Inflammatory Pustular Dermatoses: Evaluation of Therapeutic Efficacy and Validation of Pathogenic Mechanisms | PHASE2 | Completed | Sneddon-Wilkinson; Acrodermatitis Continua of Hallopeau; Pustular Psoriasis; Palmoplantar Pustulosis | — |
| NCT00915590 | Topical IL-1-Ra for Treatment of Corneal Neovascularization | PHASE2 | Terminated | Corneal Neovascularization | — |
| NCT02929251 | Multicentre, Randomized, Multi-arm Trial Comparing the Efficacy and Safety of Adalimumab, Anakinra and Tocilizumab in Subjects With Non-infectious Refractory Uveitis RUBI: Refractory Uveitis BIotherap... | PHASE2 | Completed | Uveitis; Biotherapy | — |
| NCT02780583 | Randomized Placebo Controlled Trial of Subcutaneous rhIL-1A (Anakinra) in the Management of Hospitalized Pediatric and Adult Patients With Macrophage Activation Syndrome | PHASE1 | Terminated | Macrophage Activation Syndrome | — |
| NCT03224585 | Treatment of Acute Pericarditis With Anakinra | PHASE2 | Terminated | Acute Pericarditis | — |
| NCT02236481 | No-profit" Study to Ensure Normal Clinical Practice, to Evaluate the Efficacy of Anakinra in Reducing the Glycated Haemoglobin in Patients Affected by Rheumatoid Arthritis and Diabetes; Randomized, Op... | PHASE4 | Terminated | Diabetes Mellitus, Type 2; Arthritis, Rheumatoid | — |
| NCT04834388 | Anakinra in Cerebral Haemorrhage to Target Secondary Injury Resulting From Neuroinflammation - a Phase II Clinical Trial | PHASE2 | Unknown | Intracerebral Hemorrhage | — |
| NCT02547766 | Interleukin-1 Receptor Antagonist for the Treatment of Heart Failure in Patients With Left Ventricular Assist Devices | PHASE2 | Completed | Heart Failure | — |
| NCT02173548 | Interleukin-1 Blockade in Heart Failure With Preserved Ejection Fraction (HFpEF): a Randomized Placebo-controlled Double Blinded Study (D-HART2) | PHASE2 | Completed | Heart Failure With Normal Ejection Fraction | — |
| NCT05174507 | Empagliflozin and Anakinra for the Treatment of Postprandial Hypoglycemia in Patients With Prediabetes: a Randomized, Placebo-controlled Study | PHASE2 | Withdrawn | Postprandial Hypoglycemia | — |
| NCT04205838 | IL-1 Receptor Antagonist to Prevent Severe Chimeric Antigen Receptor T-Cell Related Encephalopathy Syndrome | PHASE2 | Terminated | Diffuse Large B-Cell Lymphoma, Not Otherwise Specified; High Grade B-Cell Lymphoma; Progressive Disease; Recurrent Diffuse Large B-Cell Lymphoma; Recurrent High Grade B-Cell Lymphoma; Recurrent Primar... | — |
| NCT04656184 | A Randomized Phase III Multicenter Trial Comparing the Efficacy and Safety of Anakinra Versus Intravenous Immunoglobulin (IVIG) Retreatment, in Patients With Kawasaki Disease Who Failed to Respond to ... | PHASE3 | Recruiting | Kawasaki Disease | — |
| NCT00789724 | Recombinant Human Interleukin-1 Receptor Antagonist, Anakinra, to Prevent Post-infarction Remodeling: the Virginia Commonwealth University Anakinra Remodeling Trial (VCU-ART) | PHASE3 | Completed | ST Segment Elevation Acute Myocardial Infarction | — |
| NCT02021422 | A Pilot, Prospective, Non-randomized Evaluation of the Safety of Anakinra Plus Standard Chemotherapy Regimens in Metastatic Pancreatic Ductal Adenocarcinoma Patients | PHASE1 | Completed | Pancreas Cancer | — |
| NCT05611710 | Anakinra for Dengue Patients With Hyperinflammation - a Randomized Double-blind Placebo-controlled Trial | PHASE2 | Active, not recruiting | Dengue; Dengue With Warning Signs; Severe Dengue; Anakinra; Immuno-modulation; Anti-inflammatory Agents; Macrophage Activation Syndrome; Hyperinflammatory Syndrome; Cytokine Storm | — |
| NCT02179853 | Anakinra in Infants and Children With Coronary Artery Abnormalities in Acute Kawasaki Disease | PHASE2 | Completed | Kawasaki Disease | — |
| NCT04150913 | A Phase 2 Trial of Anakinra for the Prevention of CAR-T Cell Mediated Neurotoxicity | PHASE2 | Completed | Non Hodgkin Lymphoma; Refractory Non-Hodgkin Lymphoma; Relapsed Non Hodgkin Lymphoma; Neurotoxicity; Neurotoxicity Syndromes; Cytokine Release Syndrome | — |
| NCT01516749 | An Open Label Non-randomized Study Assessing the Efficacy and Tolerability of Fixed-dose Regimen Daily Subcutaneous Anakinra for the Treatment of Moderate to Severe Hidradenitis Suppurativa | PHASE2 | Completed | Hidradenitis Suppurativa | — |
| NCT04603742 | Anakinra in Adults With Severe COVID-19 and Features of Cytokine Storm Syndrome: A Randomized, Double-blind, Placebo-controlled Trial | PHASE2 | Withdrawn | Covid19; Cytokine Storm; Mechanical Ventilation Complication | — |
| NCT00037700 | Evaluation of the Efficacy of Combination Treatment With Anakinra and Pegsunercept in Improving Rheumatoid Arthritis | PHASE2 | Completed | Rheumatoid Arthritis | — |
| NCT04362111 | Early Treatment of Cytokine Storm Syndrome in Covid-19 | PHASE3 | Completed | Cytokine Storm; COVID-19 | — |
| NCT06071156 | Serial Cardiac Magnetic Resonance Imaging for Guidance of Therapy Management in Patients Treated With Anakinra Due to Recurrent Pericarditis | NA | Recruiting | Recurrent Pericarditis | — |
| NCT01267994 | A Phase I/II Open-label Study of the Effects of Anakinra in Corticosteroid-resistant Subjects With Autoimmune Inner Ear Disease | PHASE2 | Completed | Sensorineural Hearing Loss; Autoimmune Inner Ear Disease | — |
| NCT01542502 | Pilot Feasibility Study of the Safety and Efficacy of Anakinra in Heart Failure With Preserved Ejection Fraction | NA | Completed | Heart Failure | — |
| NCT01477476 | Anti-IL-1 Treatment in Children Diabetic Keto-Acidosis (DKA) at Diagnosis of Type 1 Diabetes. | PHASE2 | Withdrawn | Type I Diabetes | — |
| NCT04148430 | A Phase II Study of IL-1 Receptor Antagonist Anakinra to Prevent Severe Neurotoxicity and Cytokine Release Syndrome in Patients Receiving CD19-Specific Chimeric Antigen Receptor (CAR) T Cells | PHASE2 | Active, not recruiting | B Cell ALL; B-Cell Lymphoma; B-cell Non Hodgkin Lymphoma | — |
Sourced from [8]
11
Provenance
References & sources
Every statement in the overview is traced to one of the original data sources or publications below.
- 1 OMIM®Curated — 606416
- 2 OrphanetCurated — ORPHA16553
- 3 UniProtKB/Swiss-ProtCurated — muckle_wells_syndrome
- 4 ClinVarCurated — familial amyloid nephropathy with urticaria and deafness
- 5 HPO
- 6 UMLS
- 7 MalaCards — muckle_wells_syndrome
- 8 ClinicalTrials.gov
- 9 Mutation of a new gene encoding a putative pyrin-like protein causes familial cold autoinflammatory syndrome and Muckle-Wells syndrome.
- 10 Bacterial RNA and small antiviral compounds activate caspase-1 through cryopyrin/Nalp3.
- 11 Chronic infantile neurological cutaneous and articular syndrome is caused by mutations in CIAS1, a gene highly expressed in polymorphonuclear cells and chondrocytes.
- 12 NCBI Gene
- 13 De novo CIAS1 mutations, cytokine activation, and evidence for genetic heterogeneity in patients with neonatal-onset multisystem inflammatory disease (NOMID): a new member of the expanding family of pyrin-associated autoinflammatory diseases.
- 14 The SPRY domain of Pyrin, mutated in familial Mediterranean fever patients, interacts with inflammasome components and inhibits proIL-1beta processing.
- 15 Primer: inflammasomes and interleukin 1beta in inflammatory disorders.
- 16 Pattern of interleukin-1beta secretion in response to lipopolysaccharide and ATP before and after interleukin-1 blockade in patients with CIAS1 mutations.
- 17 PYPAF1, a PYRIN-containing Apaf1-like protein that assembles with ASC and regulates activation of NF-kappa B.