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ORPHA:309025

Mevalonate kinase deficiency

low confidenceDisorder

Also known as: MKD

Publications

1,165

Trials

2

Interventional, condition-specific

Researchers

1,142

Distinct authors in sample

Gene link

MVK

Definitive

Readiness

5/6

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.

Orphanet entry

Cross-references

Joined from Mondo / Orphanet. MeSH labels may enter searches; UMLS / OMIM / NCIT are stored for reference.

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.”

5/6 stages with a signal

An interventional trial matched this condition name on ClinicalTrials.gov — see trials below.

  1. Gene identifiedPresent

    Definitive — MVK

  2. LiteraturePresent

    1,165 matched papers (771 in last 10 years) Source

  3. Phenotype characterisedPresent

    126 HPO annotations (e.g. Hypotonia; Ataxia; Generalized hypotonia) Source

  4. Animal modelPresent

    2 genotype models (Mus musculus) Source

  5. Orphan designationNot found

    No FDA or EMA orphan-drug designation matched this disease via UMLS or preferred name Source

  6. 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)

126

Associated phenotypes · MONDO:0017708

  • Hypotonia
  • Ataxia
  • Generalized hypotonia
  • Cataract
  • Microcephaly

Showing 5 of 126 — open Monarch for the full list.

Animal models (Monarch / Alliance)

2

Model associations linked to this Mondo ID

Monarch fetch 2026-07-29

Therapies

Designations, candidates, and chemicals

FDA OOPD and EMA orphan designations, Open Targets clinical candidates, and CTD chemical associations via MyDisease.info. These never change the interventional-trial headline.

Orphan designation (FDA · EMA)

No designation matched this disease via UMLS or preferred name on the FDA OOPD mirror or EMA orphan register. Absence here is not proof that none exists under another wording.

Open Targets candidates

1

Drugs / clinical candidates · MONDO_0017708

CTD chemicals (MyDisease.info)

5 associated chemicals · 14 pathways. Therapeutic evidence is listed first when present — not a treatment recommendation.

  • Farnesol · therapeutic
  • geraniol · therapeutic
  • geranylgeraniol · therapeutic
  • Acetylmuramyl-Alanyl-Isoglutamine · marker/mechanism
  • Alendronate · marker/mechanism

Pathways: Terpenoid backbone biosynthesis; Metabolic pathways; Peroxisome; AMPK signaling pathway; Bile secretion; C5 isoprenoid biosynthesis, mevalonate pathway; Metabolism; Regulation of cholesterol biosynthesis by SREBP (SREBF)

MyDisease.info · MONDO:0017708

Literature

Is anyone studying this?

1,165

1,165 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=3967) is 59.

1,165 papers since the earliest indexed year in this search — median last-10-year count for a rare disease in this dataset is 59 (publications denominator n=3967).

771 in the last 10 years · low confidence

Phrase hits: 1,158 · MeSH hits: 23

Open Europe PMC search

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.

  1. 01
    Gattorno M10 papers · 2025

    Center for Autoinflammatory Diseases and Immunodeficiencies, IRCCS Istituto Giannina Gaslini, Genova, Italy.

    Papers in Europe PMC
  2. 02
    Georgin-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
  3. 03
    Frenkel J9 papers · 2026

    Department of Pediatrics, Wilhelmina Children's Hospital, University Medical Center Utrecht, Utrecht, Netherlands.

    Papers in Europe PMC
  4. 04
    Hentgen 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
  5. 05
    Koné-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
  6. 06
    Ozen S7 papers · 2024

    Hacettepe University, Ankara, Turkey.

    Papers in Europe PMC
  7. 07
    Rigante D7 papers · 2026

    Department of Translational Medicine and Surgery, Catholic University of the Sacred Heart, 00168 Rome, Italy.

    Papers in Europe PMC
  8. 08
    De Benedetti F6 papers · 2025

    Division of Rheumatology, Ospedale Pediatrico Bambino Gesù, Rome, Italy.

    Papers in Europe PMC
  9. 09
    Kuemmerle-Deschner JB6 papers · 2025

    University Hospital Tubingen, Tubingen, Germany.

    Papers in Europe PMC
  10. 10
    Belot 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 11 September 2026 · last trial check 28 July 2026

2 interventional trials — more than 77.2% of diseases in the trials denominator have none at all (5501 of 7126; this disease is at the 84.5th percentile).

low confidence · 84.5th 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.

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

    Not reviewed·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

Open the complete matched search on ClinicalTrials.gov

Other registries (secondary)

Broader net from EU CTIS, ISRCTN, and ICTRP when available — deduped against ClinicalTrials.gov IDs already counted above. Dual-model LLM relevance gates what we keep. These rows are not added to the interventional headline.

raw 0 · after dedupe 0 · already on CT.gov 0 · kept 0 · parent 0 · uncertain 0 · dropped 0 · fetched 2026-07-30

Source notes: ictrp: Error: ICTRP public search unavailable (WHO portal is SPA-only; SOAP needs partnership). Tried: https://apps.who.int/tri

No secondary-registry studies passed dual-model relevance for this condition name (after dedupe).

Where to find support

Condition-specific patient organisations, when Orphanet lists them, are on the disease’s Orphanet page. We also link umbrella groups that support undiagnosed and ultra-rare families.

Orphanet entry for Mevalonate kinase deficiency — check Associations / patient organisations on that page.

India — NPRD

Last verified 2026-07-26

This 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") OR (MESH:"Mevalonate Kinase Deficiency") OR ("MVK syndrome" OR "MVK-related")

Run this search on Europe PMC

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"

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; 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 (1165) 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