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ORPHA:521305

Proximal myopathy with focal depletion of mitochondria

high confidenceDisorder

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

Publications

3

8th percentile

Trials

0

Interventional, condition-specific

Researchers

20

Distinct authors in sample

Gene link

—

Readiness

3/6

Stages with a signal

Clinical definition (Orphanet)

A rare genetic neuromuscular disease characterized by late onset of mild, , proximal muscle weakness, severe myalgias during and after exercise, and susceptibility to rhabdomyolysis. is mild or absent. There are no abnormalities of the skin. Muscle biopsy shows focal depletion of mitochondria especially at the center of muscle fibers, surrounded by enlarged mitochondria at the periphery.

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 (1)

proximal myopathy with focal depletion of mitochondria

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 identifiedNot found

    No GenCC disease–gene assertion in this build

  2. LiteraturePresent

    3 matched papers (1 in last 10 years) Source

  3. Phenotype characterisedPresent

    3 HPO annotations (e.g. Elevated circulating creatine kinase activity; Exercise-induced myalgia; Proximal muscle weakness) 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?

Not yet — the cause hasn't been pinned down in GenCC.

No strong gene–disease assertion joined for this Orphanet entity.

Phenotypes (Monarch / HPO)

3

Associated phenotypes · MONDO:0010923

  • Elevated circulating creatine kinase activity
  • Exercise-induced myalgia
  • Proximal muscle weakness

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)

No CTD chemical associations returned for this Mondo ID.

Literature

Is anyone studying this?

3

3 papers have ever been indexed 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=3967) is 59.

3 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).

1 in the last 10 years · high confidence · 8th percentile (publications denominator)

Phrase hits: 3 · MeSH hits: 0

Open Europe PMC search

Who's working on it?

20

Distinct author names in 3 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
    Aldana-Hernandez P1 paper · 2019

    Department of Agricultural, Food and Nutritional Science, University of Alberta, Edmonton, Alberta, T6G 2E1, Canada.

    Papers in Europe PMC
  2. 02
    Beckmann ND1 paper · 2019

    Graduate School of Biological Sciences, Icahn School of Medicine at Mount Sinai, One Gustave L. Levy Place, Box 1020, New York, NY, 10029, USA.

    Papers in Europe PMC
  3. 03
    Brady L1 paper · 2016

    Department of Pediatrics, McMaster University Medical Centre, 1200 Main Street West, Hamilton, Ontario L8N 3Z5, Canada.

    Papers in Europe PMC
  4. 04
    Chipuk JE1 paper · 2019

    Department of Oncological Sciences, Icahn School of Medicine at Mount Sinai, New York, NY, 10029, USA.

    Papers in Europe PMC
  5. 05
    Curtis J1 paper · 2019

    Department of Agricultural, Food and Nutritional Science, University of Alberta, Edmonton, Alberta, T6G 2E1, Canada.

    Papers in Europe PMC
  6. 06
    Devarakonda PM1 paper · 2019

    Department of Molecular & Cell Biology, University of Connecticut, Storrs, CT, 06269, USA.

    Papers in Europe PMC
  7. 07
    Giri M1 paper · 2016

    Children's National Medical Center, Research Center for Genetic Medicine, 111 Michigan Ave, Washington D.C. 20010, USA.

    Papers in Europe PMC
  8. 08
    Goel AJ1 paper · 2019

    Department of Cell, Developmental, and Regenerative Biology, Icahn School of Medicine at Mount Sinai, One Gustave L. Levy Place, Box 1020, New York, NY, 10029, USA.

    Papers in Europe PMC
  9. 09
    Goldhamer DJ1 paper · 2019

    Department of Molecular & Cell Biology, University of Connecticut, Storrs, CT, 06269, USA.

    Papers in Europe PMC
  10. 10
    Guo YP1 paper · 1992

    Department of Neurology, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences, Beijing.

    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.

high 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 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 Proximal myopathy with focal depletion of mitochondria — 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.

"Proximal myopathy with focal depletion of mitochondria" OR "Proximal myopathy with focal depletion of the mitochondria"

Run this search on Europe PMC

MeSH descriptor terms unioned into the query: Proximal Myopathy with Focal Depletion of Mitochondria

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

"Proximal myopathy with focal depletion of mitochondria" OR "Proximal myopathy with focal depletion of the mitochondria"

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, mesh; with hits: phrase

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 2026-07-27T18:02:23.356Z