Facioscapulohumeral Muscular Dystrophy (FSHD)

Facioscapulohumeral muscular dystrophy (FSHD) is a genetic muscle disorder that causes progressive muscle weakness, primarily affecting the face, shoulders, and upper arms. FSHD progression is usually slow, and many individuals maintain mobility and have a near-normal life expectancy.

  • Cause: Most often due to a deletion in the D4Z4 region on chromosome 4, leading to inappropriate expression of the DUX4 gene; inherited in an autosomal dominant pattern.

  • Features: Muscle weakness starting in the face (difficulty smiling, closing eyes), shoulders (scapular winging), and upper arms; may progress to legs and trunk, with variable severity.

  • Diagnosis: Based on symptoms, family history, genetic testing, and sometimes muscle biopsy.

  • Treatment: No cure; management includes physical therapy, orthopedic support, and monitoring for respiratory or hearing issues.

Active Trials

  • TITLE: A 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)

    SPONSOR: Avidity Biosciences

    INDICATION: Facioscapulohumeral Muscular Dystrophy (FSHD)

    PROTOCOL: AOC 1020-CS2

    PHASE: 2

    DESCRIPTION: This study will continue to evaluate the safety, tolerability, and efficacy of AOC 1020 in participants who were treated in the randomized, placebo-controlled, Phase 1/2 AOC 1020-CS1 clinical study.

    STATUS: Active

    RECRUITING PATIENTS: No

    RDR LOCATION: Georgia

  • TITLE:

    SPONSOR: Dyne Therapeutics

    INDICATION: Facioscapulohumeral Muscular Dystrophy (FSHD)

    PROTOCOL:

    PHASE:

    DESCRIPTION:

    STATUS: Upcoming

    RECRUITING PATIENTS: Yes

    RDR LOCATION: Florida

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  • TITLE: 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

    SPONSOR: EpiCrispr Biotechnologies, Inc.

    INDICATION: Facioscapulohumeral Muscular Dystrophy (FSHD)

    STUDY PROTOCOL: EPI-321-02

    PHASE: 1/2

    DESCRIPTION: This multi-center, open-labeled, dose-escalation, Phase 1/2 study in adult participants with FSHD1 explores the safety, tolerability, and biological activity of EPI-321 after a single IV administration.

    STATUS: Active

    RECRUITING PATIENTS: No

    RDR LOCATION: Georgia

Past Trials

  • TITLE: 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 Adult Participants with Facioscapulohumeral Muscular Dystrophy (FSHD)

    SPONSOR: Avidity Biosciences

    INDICATION: Facioscapulohumeral Muscular Dystrophy (FSHD)

    PROTOCOL: AOC 1020-CS1

    PHASE: 1/2

    DESCRIPTION: 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 Adult Participants with Facioscapulohumeral Muscular Dystrophy (FSHD)

    STATUS: Active

    RECRUITING PATIENTS: No

    RDR LOCATION: Georgia

  • TITLE: A Cross-Sectional, Observational Study of AAVrh74 Seroprevalence in Adults with Facioscapulohumeral Muscular Dystrophy (FSHD) with Optional Muscle Biopsy

    SPONSOR: EpiCrispr Biotechnologies, Inc.

    INDICATION: Facioscapulohumeral Muscular Dystrophy (FSHD)

    PROTOCOL: EPI-321-01

    PHASE: N/A - observational study

    DESCRIPTION: The primary objective of this study is to estimate the seroprevalence of total binding antibodies to AAV serotype 74 (anti-AAVrh74 TAb) in adults with FSHD.

    STATUS: Closed

    RECRUITING PATIENTS: No

    RDR LOCATION: Georgia