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ORPHA:53347

Brody myopathy

high confidenceDisorder

Publications

128

59.5th percentile

Trials

0

Interventional, condition-specific

Researchers

813

Distinct authors in sample

Gene link

ATP2A1

Strong

Readiness

3/6

Stages with a signal

Clinical definition (Orphanet)

A rare genetic skeletal muscle disease characterized by childhood onset of exercise-induced impairment of muscle relaxation, stiffness, cramps, and myalgia, predominantly in the arms, legs, and face (eyelids), and, biochemically, by a reduced sarcoplasmic reticulum Ca(2+)-ATPase activity. Symptoms improve after a few minutes of rest and may be exacerbated by cold. The term Brody syndrome refers to a clinically distinguishable subset of patients without ATP2A1 mutations, with adolescence or adult onset and selective muscular involvement, in which myalgia is more common.

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.”

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 — ATP2A1

  2. LiteraturePresent

    128 matched papers (68 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 (ATP2A1).

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?

128

128 papers have ever been published on this condition (under this name). For scale, breast cancer has over 700,000. Median papers in the last 10 years for a rare disease in this dataset (publications denominator n=5449) is 41.

128 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).

68 in the last 10 years · high confidence · 59.5th percentile (publications denominator)

Phrase hits: 128 · MeSH hits: 2

Open Europe PMC search

Who's working on it?

813

Distinct author names in 128 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
    Van Engelen BG11 papers · 2026

    Department of Neurology, Donders Centre for Medical Neuroscience, Radboud University Medical Centre, Nijmegen, The Netherlands.

    Papers in Europe PMC
  2. 02
    Sacchetto R10 papers · 2026

    Comparative Biomedicine and Food Science, University of Padova,35020 Legnaro (Padova), Italy, roberta.sacchetto@unipd.it.

    Papers in Europe PMC
  3. 03
    Voermans NC10 papers · 2026

    Department of Neurology, Cognition and Behaviour, Donders Institute for Brain, Radboud University Medical Center, Nijmegen, The Netherlands.

    Papers in Europe PMC
  4. 04
    MacLennan DH9 papers · 2014

    Banting and Best Department of Medical Research, University of Toronto, Ontario, Canada.

    Papers in Europe PMC
  5. 05
    Gentile A7 papers · 2025

    the Department of Veterinary Medical Sciences, University of Bologna, 40064 Bologna, Italy.

    Papers in Europe PMC
  6. 06
    Molenaar JP7 papers · 2026

    Department of Neurology, Donders Centre for Medical Neuroscience, Radboud University Medical Centre, Nijmegen, The Netherlands.

    Papers in Europe PMC
  7. 07
    Sandonà D6 papers · 2026

    From the Departments of Biomedical Sciences and dorianna.sandona@unipd.it.

    Papers in Europe PMC
  8. 08
    Guglielmi V5 papers · 2020

    Department of Neurosciences, Biomedicine and Movement Sciences, Section of Clinical Neurology, University of Verona, Verona, Italy.

    Papers in Europe PMC
  9. 09
    Mascarello F5 papers · 2016

    Comparative Biomedicine and Food Science, University of Padova,35020 Legnaro (Padova), Italy.

    Papers in Europe PMC
  10. 10
    Oosterhof A5 papers · 2026

    Department of Biochemistry, Radboud University Medical Centre, Nijmegen, The Netherlands.

    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.

high 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.

"Brody myopathy"

Run this search on Europe PMC

MeSH descriptor terms unioned into the query: Brody myopathy

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

"Brody myopathy" OR "ATP2A1"

Recall-expansion terms: ATP2A1

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, mesh, recall-expansion; with hits: phrase, mesh

Run this search on ClinicalTrials.gov

Confidence reasoning

  • Preferred label is multi-word and distinctive
  • No synonyms dropped by stoplist
  • No label/synonym collisions with other diseases in this corpus

Ingested 2026-07-27T00:52:10.018Z