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ORPHA:25980

X-linked myopathy with excessive autophagy

low confidenceDisorder

Also known as: XMEA

Query health: suspect — Only one of 2 strategies returned hits (phrase).

Publications

1,055

Trials

0

Interventional, condition-specific

Researchers

1,422

Distinct authors in sample

Gene link

VMA21

Strong

Readiness

3/6

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.”

3/6 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

    1,055 matched papers (505 in last 10 years) Source

  3. Phenotype characterisedNot checked

    Not yet enriched from Monarch / HPO

  4. Animal modelNot checked

    Not yet enriched from Monarch / Alliance

  5. Orphan designationNot checked

    FDA/EMA orphan-drug designation not enriched yet

  6. Interventional trialPartial

    None under the specific name; 181 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)

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?

1,055

1,055 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.

1,055 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).

505 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). 181 trials are registered for myopathy, the broader category — shown separately because they may or may not enrol this specific subtype.

Data as of 27 July 2026

No matched interventional trials. This is true for 73% of diseases in the trials denominator (5114 of 7003). Here are the researchers publishing on it.

low confidence · 36.5th 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.

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

Broader category: myopathy

181

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

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 2026-07-26

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"

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" OR "VMA21"

Recall-expansion terms: VMA21

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

Parent-category trials query:

"myopathy"

Query health: suspect — strategies attempted: phrase, recall-expansion; 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 (1055) 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