ORPHA:309025
Mevalonate kinase deficiency
Also known as: MKD
Publications
1,158
Trials
2
Interventional, condition-specific
Researchers
1,142
Distinct authors in sample
Gene link
MVK
Definitive
Readiness
3/6
Stages with a signal
Clinical definition (Orphanet)
A rare inborn error of metabolism characterized by a spectrum of presentation ranging from hyperimmunoglobulinemia D with periodic fever (HIDS) to mevalonic aciduria.
How rare: <1 / 1 000 000 — fewer than one in a million. In a city the size of Kolkata, that might mean on the order of fifteen people.
Cross-references
Joined from Mondo / Orphanet. MeSH labels may enter searches; UMLS / OMIM / NCIT are stored for reference.
- MONDO:0017708
- MeSH:D054078
- UMLS:C0342731
Research stages
Trial readiness signals
Where this condition sits on an open-data research pipeline — not how close a treatment is, and not medical advice. Empty stages often mean “not in these databases under this Mondo ID,” not “impossible.”
3/6 stages with a signal
An interventional trial matched this condition name on ClinicalTrials.gov — see trials below.
- Gene identifiedPresent
Definitive — MVK
- LiteraturePresent
1,158 matched papers (764 in last 10 years) Source
- Phenotype characterisedNot checked
Not yet enriched from Monarch / HPO
- Animal modelNot checked
Not yet enriched from Monarch / Alliance
- Orphan designationNot checked
FDA/EMA orphan-drug designation not enriched yet
- Interventional trialPresent
2 matched on ClinicalTrials.gov (1 recruiting in sample)
Biology
Genes and phenotypes
Gene–disease validity from GenCC, plus phenotypes and animal models joined from Monarch Initiative via Mondo ID — not a clinical diagnosis aid.
Do we know what causes it?
Yes — we know a specific gene responsible (MVK).
GenCC classification: Definitive.
Phenotypes (Monarch / HPO)
Not enriched in this build — Monarch phenotype joins were not run for this record.
Animal models (Monarch / Alliance)
Not enriched in this build.
Literature
Is anyone studying this?
1,158
1,158 papers have been published on this condition. That is a real research literature — still far smaller than common diseases (breast cancer: over 700,000 papers). Median papers in the last 10 years for a rare disease in this dataset (publications denominator n=5449) is 41.
1,158 papers since the earliest indexed year in this search — median last-10-year count for a rare disease in this dataset is 41 (publications denominator n=5449).
764 in the last 10 years · low confidence
Phrase hits: 1,158 · MeSH hits: 23
Who's working on it?
1,142
Distinct author names in 200 sampled papers — named people below.
Who's working on it?
People publishing on this condition (sampled Europe PMC records). Affiliation is the most recent found in that sample.
- 01Gattorno M10 papers · 2025
Center for Autoinflammatory Diseases and Immunodeficiencies, IRCCS Istituto Giannina Gaslini, Genova, Italy.
Papers in Europe PMC - 02Georgin-Lavialle S10 papers · 2026
Internal medicine department, Tenon hospital, Assistance Publique - Hôpitaux de Paris, Sorbonne University, 4 rue de la Chine, 75020 Paris, France. Electronic address: sophie.georgin-lavialle@aphp.fr.
Papers in Europe PMC - 03Frenkel J9 papers · 2026
Department of Pediatrics, Wilhelmina Children's Hospital, University Medical Center Utrecht, Utrecht, Netherlands.
Papers in Europe PMC - 04Hentgen V8 papers · 2026
Department of General Pediatrics, Reference Center for Auto-inflammatory Diseases and Amyloidosis (CEREMAIA), Centre Hospitalier de Versailles, Le Chesnay-Rocquencourt, France. vhentgen@ght78sud.fr.
Papers in Europe PMC - 05Koné-Paut I7 papers · 2026
Service de Rhumatologie Pédiatrique-CEREMAIA, Centre Hospitalier Universitaire Le Kremlin Bicêtre, APHP, Université de Paris sud Saclay, Le Kremlin Bicêtre.
Papers in Europe PMC - 06
- 07Rigante D7 papers · 2026
Department of Translational Medicine and Surgery, Catholic University of the Sacred Heart, 00168 Rome, Italy.
Papers in Europe PMC - 08De Benedetti F6 papers · 2025
Division of Rheumatology, Ospedale Pediatrico Bambino Gesù, Rome, Italy.
Papers in Europe PMC - 09Kuemmerle-Deschner JB6 papers · 2025
University Hospital Tubingen, Tubingen, Germany.
Papers in Europe PMC - 10Belot A5 papers · 2026
Service de Néphrologie, Rhumatologie, Dermatologie Pédiatrique, Hôpital Femme Mère, Enfant, Hospices Civils de Lyon, Université de Lyon, Lyon.
Papers in Europe PMC
Clinical research
Is a treatment being tested?
2
interventional trials for this specific condition
2 interventional trials matched this specific condition name; 1 currently recruiting in our sample.
Data as of 27 July 2026
2 interventional trials — more than 73% of diseases in the trials denominator have none at all (5114 of 7003; this disease is at the 82.4th percentile).
low confidence · 82.4th percentile (trials denominator)
Recruiting interventional trials
From the matched ClinicalTrials.gov set
2 interventional trials matched after quoted-phrase search and title/condition post-filter.
- NCT06497829·RECRUITING·Geranylgeraniol Supplementation in Patients With Mevalonate Kinase Deficiency
Conditions: Mevalonate Kinase Deficiency·Matched via name + MeSH
Observational and natural-history studies
3 observational studies match this condition. These do not test a treatment and are not counted in the interventional-trial headline, but they are genuine research: natural-history work often defines the endpoints needed for a future rare-disease trial, and families may be able to enroll.
Recruiting or not-yet-recruiting
- NCT06838143·RECRUITING·Ilaris NIS in Korea
Conditions: Hereditary Periodic Fever Syndromes · Cryopyrin-associated Periodic Syndromes (CAPS) · Colchicine Resistance Familial Mediterranean Fever (crFMF) · TNF Receptor Associated Periodic Syndrome (TRAPS)·Matched via name + MeSH
Where to find support
We do not yet link condition-specific patient organisations. These umbrella groups support undiagnosed and ultra-rare families:
India — NPRD
Last verified 2026-07-26This ORPHAcode is not on our curated NPRD list (direct or Mondo-parent match). That does not decide clinical eligibility; families in India should ask a notified Centre of Excellence about current coverage.
Hand-curated for this project. ORPHAcode mappings are best-effort and may be incomplete or imprecise for umbrella categories. Parent (Mondo) matches mean the policy lists a broader category — confirm eligibility with a Centre of Excellence. Financial entitlements summarised from public policy statements and may change. This is not official government guidance.
How we counted this
Europe PMC query (preferred label + any corrected label + Orphanet and Mondo exact synonyms, stoplisted; unioned with resolved MeSH labels when available). UMLS / OMIM / NCIT cross-references are stored on the overview but are not added to the query string.
"Mevalonate kinase deficiency"
MeSH descriptor terms unioned into the query: Mevalonate Kinase Deficiency
ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):
"Mevalonate kinase deficiency" OR "MVK"
Recall-expansion terms: MVK
Interventional trials matched via: both (mesh = registered under a MeSH descriptor no name phrase would catch; recall-expansion = gene / selected parent terms used only for trials).
Study-type breakdown: 2 interventional · 3 observational · 0 expanded access. Only interventional studies enter the trial headline.
Query health: ok — strategies attempted: phrase, mesh, recall-expansion; with hits: phrase, mesh
Run this search on ClinicalTrials.gov
Synonyms dropped by stoplist: MKD
Confidence reasoning
- Preferred label is multi-word and distinctive
- 1 synonym(s) dropped by stoplist (may under-count)
- No label/synonym collisions with other diseases in this corpus
- Publication count (1158) is implausibly high for prevalence class "<1 / 1 000 000" — treat as possible over-matching, not a measure of research intensity
Ingested 2026-07-27T12:54:09.730Z