familial Mediterranean fever
diseaseOn this page
Also known as benign paroxysmal peritonitisbenign recurrent polyserositisfamilial paroxysmal polyserositisFiebre mediterránea familiarFMFperiodic disease
Summary
familial Mediterranean fever (MONDO:0018088) is a disease caused by MEFV (GenCC Definitive), with 1 cohort gene and 59 clinical trials. Top therapeutic interventions include colchicine, anakinra, and rilonacept.
At a glance
- Prevalence: >1 / 1000 (Armenia) [Orphanet-validated]
- Causal gene: MEFV (GenCC Definitive)
- Cohort genes: 1
- ClinVar variants: 1,189
- Phenotypes (HPO): 50
- Clinical trials: 59
Clinical features
Epidemiology
Prevalence records
6 prevalence record(s), Orphanet:
| Type | Class | Value | Geography | Validation |
|---|---|---|---|---|
| Point prevalence | >1 / 1000 | 200 | Armenia | Validated |
| Point prevalence | 1-9 / 100 000 | 2.5 | Sweden | Validated |
| Point prevalence | 1-5 / 10 000 | Europe | Not yet validated | |
| Annual incidence | 1-5 / 10 000 | 14 | Specific population | Not yet validated |
| Point prevalence | >1 / 1000 | 175 | Turkey | Not yet validated |
| Point prevalence | 1-9 / 1 000 000 | 0.23 | Japan | Not yet validated |
Signs & symptoms
Clinical features (HPO)
50 HPO clinical features (Orphanet curated; top 50 by frequency):
| HPO ID | Term | Frequency |
|---|---|---|
| HP:0002019 | Constipation | Very frequent (80-99%) |
| HP:0002027 | Abdominal pain | Very frequent (80-99%) |
| HP:0002829 | Arthralgia | Very frequent (80-99%) |
| HP:0003326 | Myalgia | Very frequent (80-99%) |
| HP:0001945 | Fever | Very frequent (80-99%) |
| HP:0002017 | Nausea and vomiting | Very frequent (80-99%) |
| HP:0000093 | Proteinuria | Frequent (30-79%) |
| HP:0000737 | Irritability | Frequent (30-79%) |
| HP:0001055 | Erysipelas | Frequent (30-79%) |
| HP:0001250 | Seizure | Frequent (30-79%) |
| HP:0001369 | Arthritis | Frequent (30-79%) |
| HP:0001974 | Leukocytosis | Frequent (30-79%) |
| HP:0002014 | Diarrhea | Frequent (30-79%) |
| HP:0002102 | Pleuritis | Frequent (30-79%) |
| HP:0002360 | Sleep abnormality | Frequent (30-79%) |
| HP:0002745 | Oral leukoplakia | Frequent (30-79%) |
| HP:0004396 | Poor appetite | Frequent (30-79%) |
| HP:0005764 | Polyarticular arthritis | Frequent (30-79%) |
| HP:0010783 | Erythema | Frequent (30-79%) |
| HP:0011899 | Hyperfibrinogenemia | Frequent (30-79%) |
| HP:0012378 | Fatigue | Frequent (30-79%) |
| HP:0025406 | Asthenia | Frequent (30-79%) |
| HP:0033748 | Hypoesthesia | Frequent (30-79%) |
| HP:0100749 | Chest pain | Frequent (30-79%) |
| HP:0000100 | Nephrotic syndrome | Occasional (5-29%) |
| HP:0000112 | Nephropathy | Occasional (5-29%) |
| HP:0000121 | Nephrocalcinosis | Occasional (5-29%) |
| HP:0000716 | Depression | Occasional (5-29%) |
| HP:0000739 | Anxiety | Occasional (5-29%) |
| HP:0000988 | Skin rash | Occasional (5-29%) |
| HP:0001287 | Meningitis | Occasional (5-29%) |
| HP:0001541 | Ascites | Occasional (5-29%) |
| HP:0001658 | Myocardial infarction | Occasional (5-29%) |
| HP:0001733 | Pancreatitis | Occasional (5-29%) |
| HP:0001744 | Splenomegaly | Occasional (5-29%) |
| HP:0002024 | Malabsorption | Occasional (5-29%) |
| HP:0002586 | Peritonitis | Occasional (5-29%) |
| HP:0002633 | Vasculitis | Occasional (5-29%) |
| HP:0002716 | Lymphadenopathy | Occasional (5-29%) |
| HP:0002758 | Osteoarthritis | Occasional (5-29%) |
| HP:0003419 | Low back pain | Occasional (5-29%) |
| HP:0003565 | Elevated erythrocyte sedimentation rate | Occasional (5-29%) |
| HP:0005214 | Intestinal obstruction | Occasional (5-29%) |
| HP:0005244 | Gastrointestinal infarctions | Occasional (5-29%) |
| HP:0006554 | Acute hepatic failure | Occasional (5-29%) |
| HP:0010741 | Pedal edema | Occasional (5-29%) |
| HP:0011034 | Amyloidosis | Occasional (5-29%) |
| HP:0011675 | Arrhythmia | Occasional (5-29%) |
| HP:0100796 | Orchitis | Occasional (5-29%) |
| HP:0001701 | Pericarditis | Very rare (<1-4%) |
Identifiers
Disease identifiers
| Field | Value |
|---|---|
| Canonical name | familial Mediterranean fever |
| Mondo ID | MONDO:0018088 |
| MeSH | D010505 |
| Orphanet | 342 |
| DOID | DOID:2987 |
| ICD-11 | 1373335705 |
| NCIT | C84707 |
| SNOMED CT | 12579009 |
| UMLS | C0031069 |
| MedGen | 45811 |
| GARD | 0006421 |
| MedDRA | 10016207 |
| NORD | 1130 |
| Is cancer (heuristic) | no |
Also known as: benign paroxysmal peritonitis · benign recurrent polyserositis · familial paroxysmal polyserositis · Fiebre mediterránea familiar · FMF · periodic disease
Data availability: 1,189 ClinVar variants · 3 GenCC gene-disease records · 9 cell lines.
Disease family
An umbrella term covering 2 Mondo subtypes.
Classification path: disease › human disease › disease by body system or component › immune system disorder › familial Mediterranean fever
Related subtypes (46): hypersensitivity reaction disease, immune system cancer, immune system organ benign neoplasm, bone marrow disorder, thymus gland disorder, inborn error of immunity, leukocyte disorder, psoriasis, spondyloarthropathy, aggressive insulitis, benign insulitis, inflammatory bowel disease, autoimmune disease, TNF receptor 1-associated periodic fever syndrome, epidermodysplasia verruciformis, Vici syndrome, proteosome-associated autoinflammatory syndrome, hyperimmunoglobulinemia D with periodic fever, transcobalamin II deficiency, pyogenic arthritis-pyoderma gangrenosum-acne syndrome, granulomatosis with polyangiitis, autosomal recessive osteopetrosis 7, graft versus host disease, congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome, Roifman syndrome, cryopyrin-associated periodic syndrome, anti-HLA hyperimmunization, acquired immunodeficiency, erythroderma desquamativum, autoinflammatory syndrome with pyogenic bacterial infection and amylopectinosis, 22q11.2 deletion syndrome, T-cell large granular lymphocyte leukemia, twin to twin transfusion syndrome, immunodeficiency disease, immunoproliferative disorder, cytokine receptor deficiency, immunodeficiency-related disorder, phagocytic cell dysfunction, thrombocytopenic purpura, lymphoid system disorder, immune reconstitution inflammatory syndrome, growth hormone insensitivity with immune dysregulation 1, autosomal recessive, cytokine release syndrome, early-onset autoimmunity-autoinflammation-immunodeficiency syndrome, CADINS disease, autoinflammation, panniculitis, and dermatosis syndrome
Subtypes (2): familial Mediterranean fever, autosomal dominant, autosomal recessive familial Mediterranean fever
Genetics & variants
GWAS landscape
No GWAS associations recorded — common-variant (GWAS) studies don’t cover this disease (typical for Mendelian / rare diseases). See the curated gene cohort and Mendelian overlap below.
Variant details and genetic-evidence tiers
ClinVar germline variants
600 retrieved; paginated sample, class counts are floors:
319 likely benign, 174 uncertain significance, 82 conflicting classifications of pathogenicity, 7 benign/likely benign, 6 pathogenic/likely pathogenic, 4 benign, 3 pathogenic, 3 not provided, 2 likely pathogenic
| ClinVar | Variant (HGVS) | Gene | Classification | Review |
|---|---|---|---|---|
| 1802172 | NM_000243.3(MEFV):c.[2080A>G];[2177T>C] | Pathogenic | criteria provided, single submitter | |
| 234365 | NM_000243.3(MEFV):c.2040G>T (p.Met680Ile) | LOC126862264 | Pathogenic/Likely pathogenic | criteria provided, multiple submitters, no conflicts |
| 2538 | NM_000243.3(MEFV):c.2080A>G (p.Met694Val) | LOC126862264 | Pathogenic/Likely pathogenic | criteria provided, multiple submitters, no conflicts |
| 2539 | NM_000243.3(MEFV):c.2082G>A (p.Met694Ile) | LOC126862264 | Pathogenic/Likely pathogenic | criteria provided, multiple submitters, no conflicts |
| 2550 | NM_000243.3(MEFV):c.2040G>A (p.Met680Ile) | LOC126862264 | Pathogenic | criteria provided, multiple submitters, no conflicts |
| 2553 | NM_000243.3(MEFV):c.1958G>A (p.Arg653His) | LOC126862264 | Pathogenic/Likely pathogenic | criteria provided, multiple submitters, no conflicts |
| 1179060 | NM_000243.3(MEFV):c.1510C>T (p.Gln504Ter) | MEFV | Pathogenic | criteria provided, single submitter |
| 2540 | NM_000243.3(MEFV):c.2177T>C (p.Val726Ala) | MEFV | Pathogenic/Likely pathogenic | criteria provided, multiple submitters, no conflicts |
| 2549 | NM_000243.3(MEFV):c.2282G>A (p.Arg761His) | MEFV | Pathogenic/Likely pathogenic | criteria provided, multiple submitters, no conflicts |
| 1179055 | NM_000243.3(MEFV):c.1597_1598dup (p.Asp533fs) | MEFV | Likely pathogenic | criteria provided, single submitter |
| 1677080 | NM_000243.3(MEFV):c.1506_1507dup (p.Ser503fs) | MEFV | Likely pathogenic | criteria provided, single submitter |
| 1062670 | NM_000243.3(MEFV):c.1957C>A (p.Arg653Ser) | LOC126862264 | Conflicting classifications of pathogenicity | criteria provided, conflicting classifications |
| 1321418 | NM_000243.3(MEFV):c.1793-19A>G | LOC126862264 | Conflicting classifications of pathogenicity | criteria provided, conflicting classifications |
| 1467370 | NM_000243.3(MEFV):c.1685A>G (p.Gln562Arg) | LOC126862264 | Conflicting classifications of pathogenicity | criteria provided, conflicting classifications |
| 1478684 | NM_000243.3(MEFV):c.2078T>C (p.Met693Thr) | LOC126862264 | Conflicting classifications of pathogenicity | criteria provided, conflicting classifications |
| 1650419 | NM_000243.3(MEFV):c.1782G>A (p.Gln594=) | LOC126862264 | Conflicting classifications of pathogenicity | criteria provided, conflicting classifications |
| 234363 | NM_000243.3(MEFV):c.1759+1G>A | LOC126862264 | Conflicting classifications of pathogenicity | criteria provided, conflicting classifications |
| 234364 | NM_000243.3(MEFV):c.1886dup (p.Pro630fs) | LOC126862264 | Conflicting classifications of pathogenicity | criteria provided, conflicting classifications |
| 234366 | NM_000243.3(MEFV):c.2146A>G (p.Lys716Glu) | LOC126862264 | Conflicting classifications of pathogenicity | criteria provided, conflicting classifications |
| 234551 | NM_000243.3(MEFV):c.2141C>T (p.Pro714Leu) | LOC126862264 | Conflicting classifications of pathogenicity | criteria provided, conflicting classifications |
| 2547 | NM_000243.3(MEFV):c.2084A>G (p.Lys695Arg) | LOC126862264 | Conflicting classifications of pathogenicity | criteria provided, conflicting classifications |
| 2556 | NM_000243.3(MEFV):c.2078TGA[1] (p.Met694del) | LOC126862264 | Conflicting classifications of pathogenicity | criteria provided, conflicting classifications |
| 289866 | NM_000243.3(MEFV):c.1957C>T (p.Arg653Cys) | LOC126862264 | Conflicting classifications of pathogenicity | criteria provided, conflicting classifications |
| 1006519 | NM_000243.3(MEFV):c.520A>G (p.Lys174Glu) | MEFV | Conflicting classifications of pathogenicity | criteria provided, conflicting classifications |
| 1009611 | NM_000243.3(MEFV):c.319T>G (p.Ser107Ala) | MEFV | Conflicting classifications of pathogenicity | criteria provided, conflicting classifications |
| 1011684 | NM_000243.3(MEFV):c.475A>G (p.Ser159Gly) | MEFV | Conflicting classifications of pathogenicity | criteria provided, conflicting classifications |
| 1012389 | NM_000243.3(MEFV):c.199G>A (p.Val67Met) | MEFV | Conflicting classifications of pathogenicity | criteria provided, conflicting classifications |
| 1018295 | NM_000243.3(MEFV):c.2310_2313del (p.Thr771fs) | MEFV | Conflicting classifications of pathogenicity | criteria provided, conflicting classifications |
| 1036172 | NM_000243.3(MEFV):c.839G>A (p.Arg280Lys) | MEFV | Conflicting classifications of pathogenicity | criteria provided, conflicting classifications |
| 1036920 | NM_000243.3(MEFV):c.201_202delinsTT (p.Gln68Ter) | MEFV | Conflicting classifications of pathogenicity | criteria provided, conflicting classifications |
Genes & proteins
Mendelian disease overlap and somatic drivers
GenCC: 5 · Orphanet: 4 · OMIM-shared: 0 · Dual-evidence (GWAS+Mendelian): 0
GenCC gene–disease validity (cohort genes)
the Disease column is the GenCC-asserted condition — a cohort gene’s strongest validity may be for a related predisposition syndrome.
| Gene | Classification | Inheritance | Disease | Records |
|---|---|---|---|---|
| MEFV | Definitive | Autosomal recessive | familial Mediterranean fever | 5 |
Orphanet rare-disease linkage (cohort genes)
| Gene | Orphanet ID | Rare disease |
|---|---|---|
| MEFV | Orphanet:117 | Behçet disease |
| MEFV | Orphanet:3243 | Sweet syndrome |
| MEFV | Orphanet:329967 | Intermittent hydrarthrosis |
| MEFV | Orphanet:342 | Familial Mediterranean fever |
Cohort genes → proteins
1 cohort genes, 1 distinct canonical proteins.
Evidence partition
| Subset | Genes |
|---|---|
| multi_evidence | 1 |
Cohort genes (full)
| Symbol | HGNC | Ensembl | UniProt | Name | Evidence |
|---|---|---|---|---|---|
| MEFV | HGNC:6998 | ENSG00000103313 | O15553 | Pyrin | gencc,clinvar |
Cohort function summary
Lead sentence per gene, UniProt-curated.
| Symbol | Protein name | Function (lead sentence) |
|---|---|---|
| MEFV | Pyrin | Involved in the regulation of innate immunity and the inflammatory response in response to IFNG/IFN-gamma. |
Protein-family classification
Druggable: 0 · Difficult: 1 · Unknown: 0 · Druggable fraction: 0.0
Family distribution
Cohort families vs a genome-wide background (hypergeometric, BH-FDR; fold = observed/expected). Counts kept; sorted by enrichment, so the catch-all Other/Unknown bucket no longer leads.
| Family | Genes | Fold | FDR |
|---|---|---|---|
| Transcription factor | 1 | 8.3× | 0.121 |
Per-gene assignment
| Symbol | Family | Druggable? | EC | InterPro (top 3) |
|---|---|---|---|---|
| MEFV | Transcription factor | no | Znf_B-box, B30.2/SPRY, SPRY_dom |
Expression context
Cohort genes with no expression data: 0.
1 cohort gene are a single-cell marker in ≥1 SCXA experiment.
Breadth distribution (Bgee present_calls)
| Bucket | Genes |
|---|---|
| narrow (1-5 tissues) | 0 |
| moderate (6-20) | 0 |
| broad (>20) | 1 |
| unknown | 0 |
Top tissues across cohort
| Tissue | Cohort genes |
|---|---|
| buccal mucosa cell | 1 |
| monocyte | 1 |
| mononuclear cell | 1 |
Per-gene tissue summary (top 30)
| Symbol | Bgee breadth | FANTOM5 breadth | SCXA | Top tissues |
|---|---|---|---|---|
| MEFV | 153 | broad | marker | buccal mucosa cell, monocyte, mononuclear cell |
Protein interactions among cohort
Intra-cohort edges: 0.
Hub genes (top 10 by interactor count)
| Symbol | Interactor count |
|---|---|
| MEFV | 2,217 |
Structural data
PDB: 1 · AlphaFold-only: 0 · No structure: 0
Cohort genes with PDB structures (top 30)
| Symbol | UniProt | PDB entries |
|---|---|---|
| MEFV | O15553 | 11 |
Function
Pathway analysis
Distinct Reactome pathways touched by cohort: 11. Enrichment computed across 1 evidence-associated genes (1 with Reactome annotation).
Pathways by enrichment
Over-representation of cohort genes vs the genome-wide background (hypergeometric test, Benjamini-Hochberg FDR; fold = observed/expected over 1 annotated cohort genes). Counts and members are kept as ground-truth; sorted by enrichment.
| Pathway | Cohort genes | Fold | FDR | Sample cohort genes |
|---|---|---|---|---|
| Inflammasomes | 1 | 1142.0× | 0.005 | MEFV |
| Cell recruitment (pro-inflammatory response) | 1 | 1142.0× | 0.005 | MEFV |
| The NLRP3 inflammasome | 1 | 671.8× | 0.005 | MEFV |
| Purinergic signaling in leishmaniasis infection | 1 | 423.0× | 0.006 | MEFV |
| Nucleotide-binding domain, leucine rich repeat containing receptor (NLR) signaling pathways | 1 | 356.9× | 0.006 | MEFV |
| Leishmania infection | 1 | 163.1× | 0.010 | MEFV |
| Parasitic Infection Pathways | 1 | 163.1× | 0.010 | MEFV |
| Innate Immune System | 1 | 25.5× | 0.049 | MEFV |
| Infectious disease | 1 | 24.8× | 0.049 | MEFV |
| Disease | 1 | 13.1× | 0.077 | MEFV |
| Immune System | 1 | 13.0× | 0.077 | MEFV |
GO biological processes by enrichment
Over-representation of cohort genes vs the genome-wide background (hypergeometric test, Benjamini-Hochberg FDR; fold = observed/expected over 1 annotated cohort genes). Counts and members are kept as ground-truth; sorted by enrichment.
| GO term | Cohort genes | Fold | FDR | Sample cohort genes |
|---|---|---|---|---|
| pyroptosome complex assembly | 1 | 8426.0× | 0.002 | MEFV |
| negative regulation of macrophage inflammatory protein 1 alpha production | 1 | 5617.3× | 0.002 | MEFV |
| regulation of interleukin-1 beta production | 1 | 2106.5× | 0.003 | MEFV |
| negative regulation of interleukin-12 production | 1 | 1053.2× | 0.003 | MEFV |
| pattern recognition receptor signaling pathway | 1 | 991.3× | 0.003 | MEFV |
| negative regulation of NLRP3 inflammasome complex assembly | 1 | 991.3× | 0.003 | MEFV |
| response to type II interferon | 1 | 526.6× | 0.004 | MEFV |
| negative regulation of interleukin-1 beta production | 1 | 510.7× | 0.004 | MEFV |
| pyroptotic inflammatory response | 1 | 510.7× | 0.004 | MEFV |
| negative regulation of cytokine production involved in inflammatory response | 1 | 421.3× | 0.004 | MEFV |
| positive regulation of interleukin-1 beta production | 1 | 259.3× | 0.006 | MEFV |
| positive regulation of autophagy | 1 | 208.1× | 0.007 | MEFV |
| positive regulation of inflammatory response | 1 | 145.3× | 0.009 | MEFV |
| negative regulation of inflammatory response | 1 | 137.0× | 0.009 | MEFV |
| regulation of gene expression | 1 | 83.4× | 0.014 | MEFV |
| inflammatory response | 1 | 37.7× | 0.028 | MEFV |
| innate immune response | 1 | 33.6× | 0.030 | MEFV |
Therapeutics
Drugs indicated for this disease
2 approved, 1 in late-stage (phase 3) trials. Disease-direct ChEMBL indications, not inferred from the associated-gene cohort below.
| Drug | Development status |
|---|---|
| Canakinumab | Approved (phase 4) |
| Colchicine | Approved (phase 4) |
| Anakinra | Phase 3 (in late-stage trials) |
Earlier-phase candidates (phase 2, investigational — efficacy not yet established): Goflikicept, Rilonacept, Sodium Chloride, Tocilizumab.
Drug target analysis
Approved (phase 4): 0 · Phase ≥3: 0 · Phased (≥1): 0 · Undrugged: 1
Druggability breadth: 1 of 1 evidence-associated genes (100%) have a ChEMBL target (buckets above are over the deeply-mined display cohort).
Top cohort targets by molecule count
| Symbol | Molecules | Max phase |
|---|---|---|
| MEFV | 0 | 0 |
Bioactivity and enzyme data
Enzyme cohort genes (≥1 EC): 0.
Cohort genes with ChEMBL bioactivity (full, sorted by assay count)
| Symbol | Assays | Type breakdown |
|---|---|---|
| MEFV | 1 | Binding:1 |
Pharmacogenomics
Cohort genes with a PharmGKB record: 1; with CPIC/DPWG dosing guidelines: 0.
No cohort gene has a CPIC/DPWG genotype-guided dosing guideline (PharmGKB).
Chemical tractability of cohort targets
0 approved/phased compounds have measured bioactivity against a cohort gene (and aren’t yet in disease-level trials). This is a research / tractability signal, NOT a therapeutic recommendation — a bioactivity row often reflects off-target or screening binding (e.g. promiscuous kinase inhibitors against a cohort kinase), implying no disease mechanism.
Druggability pyramid
Cohort genes binned by druggability tier (high → low):
| Tier | Definition | Genes | Symbols |
|---|---|---|---|
| A | Approved (phase 4 drug) | 0 | |
| B | Phased (≥1) drug, not yet approved | 0 | |
| C | Druggable family + PDB, no drug | 0 | |
| D | Druggable family + AlphaFold only, no drug | 0 | |
| E | Difficult family or no structure, no drug | 1 | MEFV |
Undrugged target profiles
1 cohort genes are undrugged. Ranked by ‘starting-point quality’ (assay depth + drugged-partner adjacency).
| Symbol | ChEMBL assays | Drugged partners (top 3) |
|---|---|---|
| MEFV | 1 | — |
Clinical trials & evidence
Clinical trials
Clinical trials: 59.
Phase distribution (across all retrieved trials)
| Phase | Trials |
|---|---|
| Not specified | 46 |
| PHASE2 | 8 |
| PHASE4 | 2 |
| PHASE3 | 2 |
| PHASE1 | 1 |
Top trials by phase / activity
| NCT | Phase | Status | Title |
|---|---|---|---|
| NCT06666335 | PHASE4 | NOT_YET_RECRUITING | A Study to Evaluate Efficacy and Safety of Anakinra in Chinese Patients With Colchicine-resistent FMF |
| NCT02602028 | PHASE4 | COMPLETED | The Comparison of the Efficacy of Once and Twice Daily Colchicine Dosage in Pediatric Patients With FMF |
| NCT06336733 | PHASE3 | RECRUITING | 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 Attacks in Patients Who Refuse Continuous Daily Therapy |
| NCT01705756 | PHASE3 | COMPLETED | Kineret (Anakinra), in Adult Patients With Colchicine-Resistant Familial Mediterranean Fever |
| NCT05092776 | PHASE2 | ACTIVE_NOT_RECRUITING | Efficacy and Safety of RPH-104 for Resolution and Prevention of Recurring Attacks in Adult Subjects With Familial Mediterranean Fever With Resistance to or Intolerance of Colchicine |
| NCT05190991 | PHASE2 | RECRUITING | Safety and Efficacy of RPH-104 Used to Prevent Recurrent Fever Attacks in Adult Patients With Colchicine Resistant or Colchicine Intolerant Familial Mediterranean Fever |
| NCT00094900 | PHASE2 | COMPLETED | Interleukin-1 Trap to Treat Autoinflammatory Diseases |
| NCT00582907 | PHASE2 | COMPLETED | Rilonacept for Treatment of Familial Mediterranean Fever (FMF) |
| NCT01088880 | PHASE2 | COMPLETED | Efficacy and Safety of Canakinumab in Patients With Colchicine Resistant Familial Mediterranean Fever |
| NCT02175589 | PHASE2 | UNKNOWN | Controlled Ceasing of Colchicine Therapy in Familial Mediterranean Fever (FMF) Patients With Single MEFV (Mediterranean Fever) Gene Mutation |
| NCT03446209 | PHASE2 | COMPLETED | Tocilizumab for the Treatment of Familial Mediterranean Fever |
| NCT05448391 | PHASE2 | WITHDRAWN | A Study to Evaluate RIST4721 in Familial Mediterranean Fever (FMF) |
| NCT01075906 | PHASE1 | COMPLETED | Pharmacokinetics Study of Colchicine in Familial Mediterranean Fever (FMF) Patients |
| NCT00001373 | Not specified | RECRUITING | Familial Mediterranean Fever and Related Disorders: Genetics and Disease Characteristics |
| NCT04478409 | Not specified | RECRUITING | Characterization of a Functional Test for Mediterranean Family Fever Screening - 2 |
| NCT05292768 | Not specified | NOT_YET_RECRUITING | Are Mast Cells Involved in Autoinflammatory Diseases |
| NCT06257342 | Not specified | ACTIVE_NOT_RECRUITING | Physical Abilities of Teenagers With Familial Mediterranean Fever |
| NCT06338891 | Not specified | RECRUITING | Can Gluten/Wheat or Other Foods be Responsible for FMF Attacks |
| NCT06583304 | Not specified | NOT_YET_RECRUITING | Hematological Indices in Pediatric Diagnosed With Familial Mediterranean Fever |
| NCT06705673 | Not specified | NOT_YET_RECRUITING | Gait Profile and Variables in Pediatric Rheumatic Disease Using a Smart Insole System |
| NCT06725849 | Not specified | NOT_YET_RECRUITING | Barriers to Physical Activity in Familial Mediterranean Fever |
| NCT06743152 | Not specified | NOT_YET_RECRUITING | Comparison of the Effects of Synchronous and Asynchronous Telerehabilitation in Patients with Juvenile Familial Mediterranean Fever |
| NCT06830213 | Not specified | NOT_YET_RECRUITING | Investigation of the Validity, Reliability and Responsiveness of the BETY-BQ in FMF |
| NCT06974942 | Not specified | NOT_YET_RECRUITING | Physical Activity in Adolescents With Familial Mediterranean Fever |
| NCT06981520 | Not specified | NOT_YET_RECRUITING | Caspase-1 Activity, IL-1beta, and IL-18 in Patients With FMF |
| NCT07013045 | Not specified | ENROLLING_BY_INVITATION | Comparing Structured Neuromuscular Exercise and Exergaming Program in Adolescents With Familial Mediterranean Fever |
| NCT07077473 | Not specified | RECRUITING | Observing the Efficacy and Safety of Different Drugs Used in Real-world Familial Mediterranean Fever (FMF) Cases |
| NCT07128225 | Not specified | ACTIVE_NOT_RECRUITING | Health-related Quality of Life, Electrocardiographic and Holter Findings in Children With Familial Mediterranean Fever |
| NCT07129538 | Not specified | RECRUITING | Outcomes of Inspiratory Muscle Training in FMF Adolescents |
| NCT07130305 | Not specified | RECRUITING | is There an Effect of Adding Body Vibration to Intake of Vitamin D on Some Outcomes of Familial Mediterranean Fever |
| NCT07130318 | Not specified | RECRUITING | Mediterranean Diet in Familial Mediterranean Fever: Is Fatty Liver Affected by Addition of Aerobic Exercise |
| NCT07212764 | Not specified | ENROLLING_BY_INVITATION | Mobile App-Based Infection Monitoring in Familial Mediterranean Fever |
| NCT07329556 | Not specified | NOT_YET_RECRUITING | Skin Autofluorescence Assessment of Advanced Glycation End Products in Rheumatic Diseases |
| NCT07439341 | Not specified | NOT_YET_RECRUITING | AGE and CALLY Index in Familial Mediterranean Fever |
| NCT07517250 | Not specified | RECRUITING | A Study on the Use of Canakinumab Among Familial Mediterranean Fever and Still’s Disease Patients |
| NCT00323440 | Not specified | WITHDRAWN | Inflammatory Proteins in Familial Mediterranean Fever During Attack and Remission |
| NCT00658060 | Not specified | UNKNOWN | Magnetic Resonance (MR) Spectroscopy In Familial Mediterranean Fever (FMF) Patients |
| NCT01059279 | Not specified | TERMINATED | Heat Intolerance in the Group of FMF Patients |
| NCT02021084 | Not specified | WITHDRAWN | The Effect of Probiotics on Response to Therapy and on Adverse Effect in Patients Treated With Colchicine for Familial Mediterranean Fever. |
| NCT02466217 | Not specified | COMPLETED | Phenomics in Autoimmune and Inflammatory Diseases |
Drugs tested across these trials (top 30)
| Molecule | Max phase | Trials referencing |
|---|---|---|
| COLCHICINE | 4 | 4 |
| ANAKINRA | 4 | 3 |
| RILONACEPT | 4 | 2 |
| CANAKINUMAB | 4 | 1 |
| GOFLIKICEPT | 3 | 2 |
| VIMNERIXIN | 2 | 1 |
| CHEMBL5220618 | 0 | 2 |
| CHEMBL2368770 | 0 | 1 |
Related Atlas pages
- Cohort genes: MEFV
- Drugs: Colchicine, Anakinra, Rilonacept, Canakinumab, Goflikicept