Disease

Facioscapulohumeral muscular dystrophy

Late-stage therapeutic development

Also known as FSH dystrophy, FSHD, facioscapulohumeral dystrophy, facioscapulohumeral myopathy.

Clinical trials

Associated genes

Related proteins

Latest activity

beta

Recent clinical, regulatory, research and industry developments relating to this disease.

A Phase 1/2 Open-label Dose-escalation Study to Evaluate the Safety, Tolerability, and Biological Activity of EPI-321, an AAVrh74-delivered Epigenetic Editing Therapy in Adult FSHD Patients

Clinical trial2026-07-20Status changed to Active, not recruiting · ClinicalTrials.gov

What's happening now

An analyst briefing on current research, clinical, regulatory and industry activity surrounding this disease.

Executive briefingUpdating summary…Momentum: Low

Key developments

4 clinical trials expected to report results, the earliest in Q3 2027.

Upcoming Milestones

Major developments

Upcoming trial readoutHigh impact

A Randomized, Double-blind, Placebo-controlled, Phase 3 Study to Evaluate the Efficacy and Safety of Intravenous AOC 1020 for the Treatment of Facioscapulohumeral Muscular Dystrophy (FSHD)

Results expected Q2 20282026-05-29

Upcoming trial readoutHigh impact

A Phase 1/2 Open-label Dose-escalation Study to Evaluate the Safety, Tolerability, and Biological Activity of EPI-321, an AAVrh74-delivered Epigenetic Editing Therapy in Adult FSHD Patients

Results expected Q3 20272026-07-20

Clinical Milestones5View

Results expected 4

Recently completed 1

2026-03-20A Randomized, Double-blind, Placebo-controlled, Phase 1/2 Study to Evaluate the Safety, Tolerability, Pharmacokinetics, Pharmacodynamics, and Exploratory Efficacy of AOC 1020 Administered Intravenously to Participants With Facioscapulohumeral Muscular Dystrophy (FSHD)Completed

Activity timeline5

2026-07-20ClinicalA Phase 1/2 Open-label Dose-escalation Study to Evaluate the Safety, Tolerability, and Biological Activity of EPI-321, an AAVrh74-delivered Epigenetic Editing Therapy in Adult FSHD PatientsResults expected Q3 2027
2026-05-29ClinicalA Randomized, Double-blind, Placebo-controlled, Phase 3 Study to Evaluate the Efficacy and Safety of Intravenous AOC 1020 for the Treatment of Facioscapulohumeral Muscular Dystrophy (FSHD)Results expected Q2 2028
2026-05-14ClinicalA Phase 2 Open-label Extension Study to Evaluate the Long-Term Safety, Tolerability, and Efficacy of AOC 1020 Administered Intravenously to Participants With Facioscapulohumeral Muscular Dystrophy (FSHD)Results expected Q2 2030
2026-03-20ClinicalA Randomized, Double-blind, Placebo-controlled, Phase 1/2 Study to Evaluate the Safety, Tolerability, Pharmacokinetics, Pharmacodynamics, and Exploratory Efficacy of AOC 1020 Administered Intravenously to Participants With Facioscapulohumeral Muscular Dystrophy (FSHD)Completed
2025-12-08ClinicalA Phase 1, Double-blinded, Randomized, Dose-repeating, Placebo-controlled, Cross-over Study to Assess the Safety and Preliminary Efficacy of Allogeneic ULSC on Disease Severity in Facioscapulohumeral Muscular Dystrophy (FSHD)Results expected Q3 2028

Clinical trials

9 sponsors · 1 new · 1 completed in the last 12 months (net +1)

The current development programme across all trial phases.

Clinical programme

All trials

Active

Late-stage

Completed

Late-stage studies

A Randomized, Double-blind, Placebo-controlled, Phase 3 Study to Evaluate the Efficacy and Safety of Intravenous AOC 1020 for the Treatment of Facioscapulohumeral Muscular Dystrophy (FSHD)

Phase 3 · Recruiting · Avidity Biosciences, Inc.

A Phase 3 Global, Randomized, Double-Blind, Placebo-Controlled, 48-Week, Parallel-Group Study of the Efficacy and Safety of Losmapimod in Treating Patients With Facioscapulohumeral Muscular Dystrophy (FSHD) (REACH)

Phase 3 · Terminated · Fulcrum Therapeutics

Recruiting

A Randomized, Double-blind, Placebo-controlled, Phase 3 Study to Evaluate the Efficacy and Safety of Intravenous AOC 1020 for the Treatment of Facioscapulohumeral Muscular Dystrophy (FSHD)

Phase 3 · Recruiting · Avidity Biosciences, Inc.

A Phase 1, Double-blinded, Randomized, Dose-repeating, Placebo-controlled, Cross-over Study to Assess the Safety and Preliminary Efficacy of Allogeneic ULSC on Disease Severity in Facioscapulohumeral Muscular Dystrophy (FSHD)

Phase 1 · Recruiting · Restem, LLC.

Recently completed

A Randomized, Double-blind, Placebo-controlled, Phase 1/2 Study to Evaluate the Safety, Tolerability, Pharmacokinetics, Pharmacodynamics, and Exploratory Efficacy of AOC 1020 Administered Intravenously to Participants With Facioscapulohumeral Muscular Dystrophy (FSHD)

Phase 1/2 · Completed · Avidity Biosciences, Inc.

Study of Testosterone and rHGH in FSHD (STARFISH): A Proof-of-Concept Study

Phase 1 · Completed · University of Rochester

A Phase 2, Randomized, Double-Blind, Placebo-Controlled, 48-Week, Parallel-Group Study of the Efficacy and Safety of Losmapimod in Treating Subjects With Facioscapulohumeral Muscular Dystrophy (FSHD)

Phase 2 · Completed · Fulcrum Therapeutics

An Open-Label Extension Study to Evaluate the Long-Term Safety, Tolerability, and Biological Activity of ATYR1940 in Patients With Limb Girdle and Facioscapulohumeral Muscular Dystrophy

Phase 1/2 · Completed · aTyr Pharma, Inc.

An Open-Label, Intrapatient Dose-Escalation Study to Evaluate the Safety, Tolerability, Immunogenicity, and Biological Activity of ATYR1940 in Patients With Early Onset and Other Pediatric Onset Facioscapulohumeral Muscular Dystrophy

Phase 1/2 · Completed · aTyr Pharma, Inc.

A Placebo-Controlled, Randomized, Multiple Ascending Dose Study to Evaluate the Safety, Tolerability, Pharmacokinetics (PK), and Biological Activity of ATYR1940 in Adult Patients With Molecularly Defined Genetic Muscular Dystrophies

Phase 1/2 · Completed · aTyr Pharma, Inc.

Associated genes

12 matches

Genes associated with this disease in the canonical knowledge graph (Open Targets evidence). Number shows the association score.

SMCHD10.78 DUX40.40 MAPK140.29 MAPK110.29 LRIF10.23 FRG10.21 FRG20.09 ALPP0.08 ZNF5550.08 SELENOS0.07 LEUTX0.02 DUXA0.02

Disease biology

1 match

Proteins whose encoding gene is associated with this disease, reached through the canonical gene→disease graph. Number shows the gene's association score.

Mitogen-activated protein kinase 11via MAPK110.29

Reference

Authoritative identity, definition & identifiers.

Synonyms

FSH dystrophy, FSHD, facioscapulohumeral dystrophy, facioscapulohumeral myopathy

References & data sources

Disease identity & definition — NLM Medical Subject Headings (MeSH), public domain
Clinical trials — ClinicalTrials.gov (U.S. National Library of Medicine)
Related entities are derived from literature co-mention (studied together) — associative, not causal.