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ORPHA:25980

X-linked myopathy with excessive autophagy

low confidenceDisorder

Also known as: XMEA

Publications

1,516

Trials

0

Interventional, condition-specific

Researchers

1,422

Distinct authors in sample

Gene link

VMA21

Strong

Readiness

4/6

Stages with a signal

Clinical definition (Orphanet)

A rare X-linked characterized by childhood or adult-onset of slowly muscle weakness and unique histopathological findings (autophagic vacuoles with sarcolemmal features).

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.

Additional Mondo synonyms (2)

myopathy, X-linked, with excessive autophagy, X-linked recessive · vacuolar myopathy

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.”

4/6 stages with a signal

No specific-condition interventional trial, but broader-category trials exist — discuss eligibility with a clinician.

  1. Gene identifiedPresent

    Strong — VMA21

  2. LiteraturePresent

    1,516 matched papers (861 in last 10 years) Source

  3. Phenotype characterisedPresent

    25 HPO annotations (e.g. Myopathy; Difficulty climbing stairs; Muscle fiber necrosis) Source

  4. Animal modelNot found

    No Alliance genotype “model of” associations via Monarch for these Mondo IDs

  5. Orphan designationNot found

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

  6. Interventional trialPartial

    None under the specific name; 182 for broader category myopathy

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 (VMA21).

GenCC classification: Strong.

Phenotypes (Monarch / HPO)

25

Associated phenotypes · MONDO:0010684

  • Myopathy
  • Difficulty climbing stairs
  • Muscle fiber necrosis
  • Intellectual disability
  • Motor delay

Showing 5 of 25 — open Monarch for the full list.

Animal models (Monarch / Alliance)

None returned for this Mondo ID. Empty here is not proof that no model organism work exists under another name or gene.

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

No drugs or clinical candidates returned for this Mondo ID on Open Targets.

CTD chemicals (MyDisease.info)

4 associated chemicals. Therapeutic evidence is listed first when present — not a treatment recommendation.

  • Chloroquine · marker/mechanism
  • Chlorphentermine · marker/mechanism
  • Colchicine · marker/mechanism
  • Cyclosporine · marker/mechanism

MyDisease.info · MONDO:0010684

Literature

Is anyone studying this?

1,516

1,516 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.

1,516 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).

861 in the last 10 years · low confidence

Phrase hits: 1,055 · MeSH hits: 0

Open Europe PMC search

Who's working on it?

1,422

Distinct author names in 200 sampled papers — named people below.

Who's working on it?

No interventional trial matched this name; these authors publish on it in the sampled literature — a practical starting point for contact.

  1. 01
    Nishino I10 papers · 2024

    Department of Neuromuscular Research, National Institute of Neuroscience, National Center of Neurology and Psychiatry, Tokyo, Japan.

    Papers in Europe PMC
  2. 02
    Milone M7 papers · 2025

    Department of Neurology (N.N.M., J.A.T., W.J.L., M.M.), Department of Laboratory Medicine and Pathology (Z.N.), Department of Clinical Genomics (Z.N.), and Department of Biochemistry & Molecular Biology (C.C., K.L.), Mayo Clinic, Rochester, MN.

    Papers in Europe PMC
  3. 03
    Minassian BA7 papers · 2017

    Department of Paediatrics (Neurology) and Program in Genetics and Genome Biology, The Hospital for Sick Children and University of Toronto, Toronto, Canada. Electronic address: berge.minassian@sickkids.ca.

    Papers in Europe PMC
  4. 04
    Ruggieri A7 papers · 2026

    Neuroimmunology and Neuromuscular Disease Unit, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy. alessandra.ruggieri@istituto-besta.it.

    Papers in Europe PMC
  5. 05
    Liewluck T6 papers · 2026

    Department of Neurology, Mayo Clinic, 200 First Street SW, Rochester, Minnesota, 55905.

    Papers in Europe PMC
  6. 06
    Malfatti E6 papers · 2025

    Université Paris Est, U955 INSERM, EnvA, EFS, IMRB, Créteil, France.

    Papers in Europe PMC
  7. 07
    Udd B6 papers · 2026

    Folkhälsan Research Center.

    Papers in Europe PMC
  8. 08
    Evangelista T5 papers · 2026

    Neuromuscular Morphology Unit, Neuromuscular Investigation Center, Institute of Myology, Pitié-Salpêtrière Hospital, Paris, France.

    Papers in Europe PMC
  9. 09
    Kalimo H5 papers · 2020

    Department of Pathology, University of Helsinki, Helsinki, Finland; Department of Forensic Medicine, Institute of Biomedicine, University of Turku, Turku, Finland. Electronic address: hannu.kalimo@helsinki.fi.

    Papers in Europe PMC
  10. 10
    Ramachandran N5 papers · 2015

    Department of Paediatrics (Neurology) and Program in Genetics and Genome Biology, The Hospital for Sick Children and University of Toronto, Toronto, Canada.

    Papers in Europe PMC

Clinical research

Is a treatment being tested?

0

interventional trials for this specific condition

No interventional trial testing a treatment matched this specific condition name on ClinicalTrials.gov (observational studies and pan-disease registries are listed separately when present). 182 trials are registered for myopathy, the broader category — shown separately because they may or may not enrol this specific subtype.

Data as of 11 September 2026 · last trial check 11 September 2026

No matched interventional trials. This is true for 77.2% of diseases in the trials denominator (5501 of 7126). Here are the researchers publishing on it.

low confidence · 38.6th percentile (trials denominator)

Recruiting interventional trials

From the matched ClinicalTrials.gov set

No interventional trial testing a treatment was found for this specific condition name on ClinicalTrials.gov.

182 interventional trials matched myopathy, the broader category — listed below. Those studies are not counted in the condition-specific total.

Broader category: myopathy

182

Interventional trials for the parent category, exclusive of NCT IDs already counted above. Eligibility for this subtype is not guaranteed.

Worth raising with a clinician. How we count trials.

Recruiting under the broader category

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 53 · after dedupe 53 · already on CT.gov 0 · kept 0 · parent 0 · uncertain 53 · dropped 0 · fetched 2026-07-29

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).

Uncertain / not reviewed (53)

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 X-linked myopathy with excessive autophagy — 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.

("X-linked myopathy with excessive autophagy" OR "myopathy, X-linked, with excessive autophagy, X-linked recessive" OR "vacuolar myopathy") OR ("VMA21" OR "VMA21 syndrome" OR "VMA21-related")

Run this search on Europe PMC

ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):

"X-linked myopathy with excessive autophagy" OR "myopathy, X-linked, with excessive autophagy, X-linked recessive" OR "vacuolar myopathy"

Study-type breakdown: 0 interventional · 0 observational · 0 expanded access. Only interventional studies enter the trial headline.

Parent-category trials query:

"myopathy"

Query health: ok — strategies attempted: phrase; with hits: phrase

Run this search on ClinicalTrials.gov

Synonyms dropped by stoplist: XMEA

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 (1516) is implausibly high for prevalence class "<1 / 1 000 000" — treat as possible over-matching, not a measure of research intensity

Ingested 2026-07-26T23:19:39.034Z