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ORPHA:98895

Becker muscular dystrophy

medium confidenceDisorder

Also known as: BMD · Becker dystrophinopathy

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

Publications

5,741

92.1th percentile

Trials

38

Interventional, condition-specific

Researchers

1,262

Distinct authors in sample

Gene link

DMD

Definitive

Readiness

6/6

Stages with a signal

Clinical definition (Orphanet)

A rare, genetic muscular characterized by muscle wasting and weakness due to degeneration of skeletal, smooth and cardiac muscle.

How rare: 1-9 / 100 000 — about one to nine people per hundred thousand.

Orphanet entry

Cross-references

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

Additional Mondo synonyms (1)

Becker muscular dystrophy, X-linked recessive

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.”

6/6 stages with a signal

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

  1. Gene identifiedPresent

    Definitive — DMD

  2. LiteraturePresent

    5,741 matched papers (2,930 in last 10 years) Source

  3. Phenotype characterisedPresent

    28 HPO annotations (e.g. Abnormal urinary color; Falls; Fatigue) Source

  4. Animal modelPresent

    1 genotype model (Mus musculus) Source

  5. Orphan designationPresent

    3 FDA · 5 EMA designations (3 FDA orphan-indication approvals) — e.g. Vasomera Source

  6. Interventional trialPresent

    38 matched on ClinicalTrials.gov (5 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 (DMD).

GenCC classification: Definitive.

Phenotypes (Monarch / HPO)

28

Associated phenotypes · MONDO:0010311

  • Abnormal urinary color
  • Falls
  • Fatigue
  • Exercise intolerance
  • Muscle spasm

Showing 5 of 28 — open Monarch for the full list.

Animal models (Monarch / Alliance)

1

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)

8

Designations · 3 with FDA orphan-indication approval

  • FDA VasomeraDUCHENNE MUSCULAR DYSTROPHY BMD Cardiomyopathy Becker Muscular Dystrophy DMD DMD X-linked dilated cardiomyopathy · 2015-11-19 · Not FDA Approved for Orphan Indication
  • FDA givinostatDUCHENNE MUSCULAR DYSTROPHY Becker Muscular Dystrophy · 2013-04-12 · Not FDA Approved for Orphan Indication
  • FDA OxandroloneDuchenne's Muscular Dystrophy Becker's Muscular Dystrophy · 1997-04-22 · Not FDA Approved for Orphan Indication
  • EMA givinostatTreatment of Becker muscular dystrophy · 31/07/2018 · PositiveEMA designation
  • EMA Induced pluripotent stem cells-derived myogenic progenitor cellsTreatment of Becker muscular dystrophy · 22/05/2025 · PositiveEMA designation
  • EMA sevasemtenTreatment of Becker muscular dystrophy · 21/03/2024 · PositiveEMA designation
  • EMA unknownTreatment of Becker muscular dystrophy · 26/06/2020 · WithdrawnEMA designation
  • EMA atalurenTreatment of Becker muscular dystrophy · 04/07/2012 · WithdrawnEMA designation

Sources: FDA OOPD · EMA orphan designations

Open Targets candidates

15

Drugs / clinical candidates · MONDO_0010311

CTD chemicals (MyDisease.info)

No CTD chemical associations returned for this Mondo ID.

Literature

Is anyone studying this?

5,741

5,741 papers — among the better-studied rare conditions, though still a fraction of common-disease literature (breast cancer: over 700,000). Median papers in the last 10 years for a rare disease in this dataset (publications denominator n=3967) is 59.

5,741 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).

2,930 in the last 10 years · medium confidence · 92.1th percentile (publications denominator)

Phrase hits: 5,462 · MeSH hits: 0

Open Europe PMC search

Who's working on it?

1,262

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
    Yokota T9 papers · 2025

    Department of Medical Genetics, University of Alberta Faculty of Medicine and Dentistry, Edmonton, AB, Canada. toshifumi@ualberta.ca.

    Papers in Europe PMC
  2. 02
    Xie Z7 papers · 2025

    Department of Neurology, Peking University First Hospital, Beijing, 100034, China.

    Papers in Europe PMC
  3. 03
    Niks EH6 papers · 2026

    Department of Neurology, Leiden University Medical Center, Leiden, The Netherlands.

    Papers in Europe PMC
  4. 04
    Awano H5 papers · 2025

    Department of Pediatrics, Kobe University Graduate School of Medicine, Kobe, Japan.

    Papers in Europe PMC
  5. 05
    van de Velde NM5 papers · 2026

    Department of Neurology, Leiden University Medical Center, Leiden, The Netherlands.

    Papers in Europe PMC
  6. 06
    Vissing J5 papers · 2026

    Copenhagen Neuromuscular Center, Department of Neurology, Rigshospitalet, University of Copenhagen, Copenhagen 2100, Denmark.

    Papers in Europe PMC
  7. 07
    Bello L4 papers · 2026

    Department of Neurosciences DNS, University of Padova, Padua, Italy.

    Papers in Europe PMC
  8. 08
    Guglieri M4 papers · 2026

    John Walton Muscular Dystrophy Research Centre, Translational and Clinical Research Institute, Newcastle University and Newcastle Hospitals NHS Foundation Trust, Central Parkway, Newcastle Upon Tyne, NE1 3BZ, UK. michela.guglieri@newcastle.ac.uk.

    Papers in Europe PMC
  9. 09
    Kan HE4 papers · 2026

    Department of Radiology, C.J. Gorter MRI Center, Leiden University Medical Center, Netherlands.

    Papers in Europe PMC
  10. 10
    Liu C4 papers · 2025

    Department of Neurology, Peking University First Hospital, Beijing, 100034, China.

    Papers in Europe PMC

Clinical research

Is a treatment being tested?

38

interventional trials for this specific condition

38 interventional trials matched this specific condition name; 5 currently recruiting in our sample.

Data as of 11 September 2026 · last trial check 28 July 2026

38 interventional trials — more than 77.2% of diseases in the trials denominator have none at all (5501 of 7126; this disease is at the 96.6th percentile).

medium confidence · 96.6th percentile (trials denominator)

Recruiting interventional trials

From the matched ClinicalTrials.gov set

38 interventional trials matched after quoted-phrase search and title/condition post-filter.

Observational and natural-history studies

27 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

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 8 · after dedupe 8 · already on CT.gov 0 · kept 0 · parent 0 · uncertain 8 · 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).

Uncertain / not reviewed (8)

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 Becker muscular dystrophy — 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.

("Becker muscular dystrophy" OR "Becker dystrophinopathy" OR "Becker muscular dystrophy, X-linked recessive") OR (MESH:"Benign Pseudohypertrophic Muscular Dystrophy") OR ("DMD syndrome" OR "DMD-related")

Run this search on Europe PMC

MeSH descriptor terms unioned into the query: Benign Pseudohypertrophic Muscular Dystrophy

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

"Becker muscular dystrophy" OR "Becker dystrophinopathy" OR "Becker muscular dystrophy, X-linked recessive" OR "Benign Pseudohypertrophic Muscular Dystrophy"

Interventional trials matched via: phrase (mesh = registered under a MeSH descriptor no name phrase would catch; recall-expansion = gene / selected parent terms used only for trials).

Study-type breakdown: 38 interventional · 27 observational · 0 expanded access. Only interventional studies enter the trial headline.

Query health: suspect — strategies attempted: phrase, mesh; with hits: phrase

Run this search on ClinicalTrials.gov

Synonyms dropped by stoplist: BMD

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

Ingested 2026-07-27T05:41:06.874Z