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ORPHA:98896

Duchenne muscular dystrophy

medium confidenceDisorder

Also known as: DMD · Severe dystrophinopathy, Duchenne type

Publications

31,160

98.3th percentile

Trials

307

Interventional, condition-specific

Researchers

1,421

Distinct authors in sample

Gene link

DMD

Definitive

Readiness

6/6

Stages with a signal

Clinical definition (Orphanet)

A rare, genetic, muscular characterized by rapidly muscle weakness and wasting 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 (2)

Duchenne muscular dystrophy, X-linked recessive · severe dystrophinopathy, Duchenne type

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

    31,160 matched papers (17,380 in last 10 years) Source

  3. Phenotype characterisedPresent

    45 HPO annotations (e.g. Scoliosis; Elevated circulating creatine kinase activity; Cognitive impairment) Source

  4. Animal modelPresent

    62 genotype models (Danio rerio, Mus musculus, Rattus norvegicus) Source

  5. Orphan designationPresent

    15 FDA · 5 EMA designations (15 FDA orphan-indication approvals) — e.g. N-Acetylglucosamine Source

  6. Interventional trialPresent

    307 matched on ClinicalTrials.gov (54 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)

45

Associated phenotypes · MONDO:0010679

  • Scoliosis
  • Elevated circulating creatine kinase activity
  • Cognitive impairment
  • Global developmental delay
  • Flexion contracture

Showing 5 of 45 — open Monarch for the full list.

Animal models (Monarch / Alliance)

62

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)

30

Designations · 15 with FDA orphan-indication approval

  • FDA N-AcetylglucosamineDUCHENNE MUSCULAR DYSTROPHY · 2020-09-23 · Not FDA Approved for Orphan Indication
  • FDA pamrevlumabDUCHENNE MUSCULAR DYSTROPHY · 2019-04-11 · Not FDA Approved for Orphan Indication
  • FDA 20-hydroxyecdysoneDUCHENNE MUSCULAR DYSTROPHY · 2018-05-10 · Not FDA Approved for Orphan Indication
  • FDA rimeporideDUCHENNE MUSCULAR DYSTROPHY · 2017-09-19 · Not FDA Approved for Orphan Indication
  • FDA cosyntropinDUCHENNE MUSCULAR DYSTROPHY · 2017-07-06 · Not FDA Approved for Orphan Indication
  • 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 tadalafilDUCHENNE MUSCULAR DYSTROPHY · 2015-05-04 · Not FDA Approved for Orphan Indication
  • FDA naproxcinodDUCHENNE MUSCULAR DYSTROPHY · 2015-03-16 · Not FDA Approved for Orphan Indication

Sources: FDA OOPD · EMA orphan designations

Open Targets candidates

62

Drugs / clinical candidates · MONDO_0010679

CTD chemicals (MyDisease.info)

11 associated chemicals · 119 pathways. Therapeutic evidence is listed first when present — not a treatment recommendation.

  • 5-O-(5-amino-5-deoxyribofuranosyl)-1N-(4-amino-2-hydroxybutanoyl)paromamine · therapeutic
  • acetovanillone · therapeutic
  • Angiotensin-Converting Enzyme Inhibitors · therapeutic
  • Cannabidiol · therapeutic
  • cannabidivarin · therapeutic
  • Losartan · therapeutic
  • Methylprednisolone · therapeutic
  • Resveratrol · therapeutic
  • Taurine · therapeutic
  • viltolarsen · therapeutic
  • Prednisolone · marker/mechanism

Pathways: MAPK signaling pathway; Cytokine-cytokine receptor interaction; Chemokine signaling pathway; FoxO signaling pathway; Cell cycle; Endocytosis; TGF-beta signaling pathway; Osteoclast differentiation

MyDisease.info · MONDO:0010679

Literature

Is anyone studying this?

31,160

31,160 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.

31,160 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).

17,380 in the last 10 years · medium confidence · 98.3th percentile (publications denominator)

Phrase hits: 31,061 · MeSH hits: 705

Open Europe PMC search

Who's working on it?

1,421

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
    Guglieri M8 papers · 2026

    John Walton Muscular Dystrophy Research Centre, Newcastle University and Newcastle Hospitals NHS Foundation Trust, Newcastle, UK.

    Papers in Europe PMC
  2. 02
    Muntoni F8 papers · 2026

    UCL Great Ormond Street Institute of Child Health, London, UK. Electronic address: f.muntoni@ucl.ac.uk.

    Papers in Europe PMC
  3. 03
    Mercuri E7 papers · 2026

    Department of Paediatric Neurology, Catholic University, Rome, Italy.

    Papers in Europe PMC
  4. 04
    Chen Y5 papers · 2026

    Department of Neurology, the First Affiliated Hospital, Zhejiang University School of Medicine, Hangzhou, China.

    Papers in Europe PMC
  5. 05
    Liu Y5 papers · 2026

    School of Chemical Biology and Biotechnology, Peking University Shenzhen Graduate School, Shenzhen, China.

    Papers in Europe PMC
  6. 06
    Markham LW5 papers · 2026

    Division of Pediatric Cardiology, Department of Pediatrics, Vanderbilt University Medical Center, Nashville, Tennessee, United States of America.

    Papers in Europe PMC
  7. 07
    Tian C5 papers · 2026

    Department of Pediatrics, University of Cincinnati School of Medicine, OH, USA; Division of Neurology, Cincinnati Children's Hospital Medical Center, OH, USA.

    Papers in Europe PMC
  8. 08
    Wang X5 papers · 2026

    Department of Radiation Oncology, The University of Texas MD Anderson Cancer Center, Houston, TX, USA.

    Papers in Europe PMC
  9. 09
    Yang L5 papers · 2026

    School of Chemical Biology and Biotechnology, Peking University Shenzhen Graduate School, Shenzhen, China.

    Papers in Europe PMC
  10. 10
    Earl CC4 papers · 2026

    Weldon School of Biomedical Engineering, Purdue University, West Lafayette, Indiana, USA; Indiana University School of Medicine, Indianapolis, Indiana, USA.

    Papers in Europe PMC

Clinical research

Is a treatment being tested?

307

interventional trials for this specific condition

307 interventional trials matched this specific condition name; 54 currently recruiting in our sample.

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

307 interventional trials — more than 77.2% of diseases in the trials denominator have none at all (5501 of 7126; this disease is at the 99.6th percentile).

medium confidence · 99.6th percentile (trials denominator)

Recruiting interventional trials

From the matched ClinicalTrials.gov set

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

Observational and natural-history studies

118 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 49 · after dedupe 45 · already on CT.gov 0 · kept 0 · parent 0 · uncertain 45 · 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 (45)

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 Duchenne muscular dystrophy — check Associations / patient organisations on that page.

India — NPRD

Last verified 2026-07-26

Directly listed under NPRD Group 3.

Group 3 — high-cost / lifelong therapy with careful selection

Up to ₹50 lakh per patient

Financial support at notified Centres of Excellence is the figure commonly cited in recent MoHFW/PIB statements. Many Group 3 patients also use the MoHFW voluntary-contribution / crowdfunding portal.

Eligibility and patient selection rules change. Verify with a CoE; the crowdfunding portal is a separate mechanism from CoE funding. Verify

Centres of Excellence (15)
  • All India Institute of Medical Sciences (AIIMS) — New Delhi, Delhi
  • Maulana Azad Medical College — New Delhi, Delhi
  • Sanjay Gandhi Post Graduate Institute of Medical Sciences — Lucknow, Uttar Pradesh
  • Post Graduate Institute of Medical Education and Research (PGIMER) — Chandigarh, Chandigarh
  • Centre for DNA Fingerprinting & Diagnostics with Nizam’s Institute of Medical Sciences — Hyderabad, Telangana
  • King Edward Memorial Hospital — Mumbai, Maharashtra
  • Institute of Post-Graduate Medical Education and Research (IPGMER) — Kolkata, West Bengal
  • Centre for Human Genetics with Indira Gandhi Hospital — Bengaluru, Karnataka
  • Institute of Child Health and Hospital for Children (ICH & HC) — Chennai, Tamil Nadu
  • All India Institute of Medical Sciences (AIIMS) — Jodhpur, Rajasthan
  • Sree Avittam Thirunal Hospital (SAT), Government Medical College — Thiruvananthapuram, Kerala
  • All India Institute of Medical Sciences (AIIMS) — Bhopal, Madhya Pradesh
  • Regional Institute of Medical Sciences (RIMS) — Imphal, Manipur
  • All India Institute of Medical Sciences (AIIMS) — Patna, Bihar
  • Assam Medical College & Hospital — Dibrugarh, Assam

Voluntary contributions / crowdfunding (separate from CoE funding): https://rarediseases.mohfw.gov.in/

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.

("Duchenne muscular dystrophy" OR "Severe dystrophinopathy, Duchenne type" OR "Duchenne muscular dystrophy, X-linked recessive") OR (MESH:"Muscular Dystrophy, Duchenne") OR ("DMD syndrome" OR "DMD-related")

Run this search on Europe PMC

MeSH descriptor terms unioned into the query: Muscular Dystrophy, Duchenne

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

"Duchenne muscular dystrophy" OR "Severe dystrophinopathy, Duchenne type" OR "Duchenne muscular dystrophy, X-linked recessive" OR "Muscular Dystrophy, Duchenne"

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

Study-type breakdown: 307 interventional · 118 observational · 6 expanded access. Only interventional studies enter the trial headline.

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

Run this search on ClinicalTrials.gov

Synonyms dropped by stoplist: DMD

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 2026-07-27T05:41:11.445Z