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ORPHA:269

Facioscapulohumeral dystrophy

medium confidenceDisorder

Also known as: FSH dystrophy · FSHD · Facioscapulohumeral muscular dystrophy · Facioscapulohumeral myopathy · Landouzy-Dejerine dystrophy · Landouzy-Dejerine myopathy

Publications

4,257

91.3th percentile

Trials

40

Interventional, condition-specific

Researchers

1,220

Distinct authors in sample

Gene link

LRIF1

Moderate

Readiness

6/6

Stages with a signal

Clinical definition (Orphanet)

A rare neuromuscular disease characterized by muscle weakness with focal involvement of the facial, shoulder and limb muscles.

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 (3)

facioscapulohumeral dystrophy · facioscapulohumeral muscular dystrophy · facioscapulohumeral 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.”

6/6 stages with a signal

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

  1. Gene identifiedPresent

    Moderate — LRIF1

  2. LiteraturePresent

    4,257 matched papers (2,498 in last 10 years) Source

  3. Phenotype characterisedPresent

    77 HPO annotations (e.g. Upper limb muscle weakness; Weakness of facial musculature; Mask-like facies) Source

  4. Animal modelPresent

    8 genotype models (Mus musculus) Source

  5. Orphan designationPresent

    2 FDA · 7 EMA designations (2 FDA orphan-indication approvals) — e.g. losmapimod Source

  6. Interventional trialPresent

    40 matched on ClinicalTrials.gov (7 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?

Probably — there is moderate evidence for LRIF1.

GenCC classification: Moderate.

Phenotypes (Monarch / HPO)

77

Associated phenotypes · MONDO:0001347

  • Upper limb muscle weakness
  • Weakness of facial musculature
  • Mask-like facies
  • Skeletal muscle atrophy
  • Elevated circulating creatine kinase activity

Showing 5 of 77 — open Monarch for the full list.

Animal models (Monarch / Alliance)

8

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)

9

Designations · 2 with FDA orphan-indication approval

  • FDA losmapimodFacioscapulohumeral muscular dystrophy · 2020-01-27 · Not FDA Approved for Orphan Indication
  • FDA rebastinibFacioscapulohumeral muscular dystrophy · 2018-05-23 · Not FDA Approved for Orphan Indication
  • EMA zinc gluconatetreatment of facioscapulohumeral muscular dystrophy · 18/11/2016 · PositiveEMA designation
  • EMA alpha-tocopheroltreatment of facioscapulohumeral muscular dystrophy · 18/11/2016 · PositiveEMA designation
  • EMA ascorbic acidtreatment of facioscapulohumeral muscular dystrophy · 18/11/2016 · PositiveEMA designation
  • EMA L-selenomethioninetreatment of facioscapulohumeral muscular dystrophy · 18/11/2016 · PositiveEMA designation
  • EMA humanised IgG1 monoclonal antibody against TfR1 conjugated to double stranded siRNA oligonucleotide against DUX4 mRNA via a non-cleavable linkertreatment of facioscapulohumeral muscular dystrophy · 15/02/2023 · PositiveEMA designation
  • EMA Losmapimodtreatment of facioscapulohumeral muscular dystrophy · 24/03/2020 · WithdrawnEMA designation

Sources: FDA OOPD · EMA orphan designations

Open Targets candidates

8

Drugs / clinical candidates · MONDO_0001347

CTD chemicals (MyDisease.info)

No CTD chemical associations returned for this Mondo ID.

Literature

Is anyone studying this?

4,257

4,257 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=3967) is 59.

4,257 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).

2,498 in the last 10 years · medium confidence · 91.3th percentile (publications denominator)

Phrase hits: 4,106 · MeSH hits: 0

Open Europe PMC search

Who's working on it?

1,220

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
    Voermans NC16 papers · 2026

    Department of Neurology, Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, P. O. Box 9101, 6500 HB, Nijmegen, The Netherlands. nicol.voermans@radboudumc.nl.

    Papers in Europe PMC
  2. 02
    van Engelen BGM11 papers · 2026

    Department of Neurology, Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, P. O. Box 9101, 6500 HB, Nijmegen, The Netherlands.

    Papers in Europe PMC
  3. 03
    Tupler R10 papers · 2026

    Department of Life Sciences, University of Modena and Reggio Emilia, 41125 Modena, Italy.

    Papers in Europe PMC
  4. 04
    Lin X9 papers · 2026

    Department of Neurology and Institute of Neurology of First Affiliated Hospital, Institute of Neuroscience, and Fujian Key Laboratory of Molecular Neurology, Fujian Medical University, Fuzhou, China.

    Papers in Europe PMC
  5. 05
    Mul K9 papers · 2026

    Department of Neurology, Clinical Neuromuscular Imaging Group, Donders Institute for Brain, Cognition and Behavior, Radboud University Medical Center, Nijmegen, The Netherlands.

    Papers in Europe PMC
  6. 06
    Jones PL8 papers · 2026

    Department of Pharmacology, Center for Molecular Medicine, University of Nevada, Reno School of Medicine, 1664 N Virginia St., Reno, NV 89557, USA.

    Papers in Europe PMC
  7. 07
    Sacconi S8 papers · 2026

    Peripheral Nervous System and Muscle Department, Université Côte d'Azur, CHU Nice, Pasteur 2, Nice Hospital, France. sacconi.s@chu-nice.fr.

    Papers in Europe PMC
  8. 08
    Tawil R8 papers · 2026

    Department of Neurology, University of Rochester Medical Center, Rochester, New York, USA.

    Papers in Europe PMC
  9. 09
    van der Maarel SM8 papers · 2026

    Department of Human Genetics, Leiden University Medical Center, 2333 ZA, Leiden, The Netherlands.

    Papers in Europe PMC
  10. 10
    Jones TI7 papers · 2026

    Department of Pharmacology, Center for Molecular Medicine, University of Nevada, Reno School of Medicine, 1664 N Virginia St., Reno, NV 89557, USA.

    Papers in Europe PMC

Clinical research

Is a treatment being tested?

40

interventional trials for this specific condition

40 interventional trials matched this specific condition name; 7 currently recruiting in our sample.

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

40 interventional trials — more than 77.2% of diseases in the trials denominator have none at all (5501 of 7126; this disease is at the 96.8th percentile).

medium confidence · 96.8th percentile (trials denominator)

Recruiting interventional trials

From the matched ClinicalTrials.gov set

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

Observational and natural-history studies

24 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 11 · after dedupe 11 · already on CT.gov 0 · kept 0 · parent 0 · uncertain 11 · dropped 0 · fetched 2026-07-29

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 (11)

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 Facioscapulohumeral 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.

("Facioscapulohumeral dystrophy" OR "FSH dystrophy" OR "Facioscapulohumeral muscular dystrophy" OR "Facioscapulohumeral myopathy" OR "Landouzy-Dejerine dystrophy" OR "Landouzy-Dejerine myopathy") OR ("LRIF1" OR "LRIF1 syndrome" OR "LRIF1-related")

Run this search on Europe PMC

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

"Facioscapulohumeral dystrophy" OR "FSH dystrophy" OR "Facioscapulohumeral muscular dystrophy" OR "Facioscapulohumeral myopathy" OR "Landouzy-Dejerine dystrophy" OR "Landouzy-Dejerine myopathy"

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: 40 interventional · 24 observational · 0 expanded access. Only interventional studies enter the trial headline.

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

Run this search on ClinicalTrials.gov

Synonyms dropped by stoplist: FSHD

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 2026-07-26T13:08:45.085Z