Myotonic Dystrophy Type 1

Myotonic dystrophy type 1 (DM1) is a genetic disorder that affects muscles and other systems of the body, causing progressive muscle weakness and prolonged muscle contractions (myotonia). DM1 is a multisystem condition requiring lifelong, multidisciplinary care. Life expectancy can be shortened, especially in severe or congenital cases.

  • Cause: Caused by a CTG repeat expansion in the DMPK gene on chromosome 19. It is inherited in an autosomal dominant pattern, and the number of repeats often increases in successive generations (genetic anticipation), leading to more severe symptoms.

  • Features: Muscle weakness and wasting (especially face, neck, and lower legs), myotonia (delayed muscle relaxation), cataracts, daytime sleepiness, cardiac conduction defects, endocrine issues (e.g., insulin resistance, infertility), and cognitive or learning difficulties. Severity and age of onset vary.

  • Diagnosis: Confirmed by genetic testing to detect the CTG repeat expansion.

  • Treatment: No cure. Management includes physical therapy, medications for myotonia, cardiac monitoring, and treatment of associated conditions (e.g., sleep disorders, endocrine problems).

Active Trials

  • TITLE: A Phase 1 Placebo-Controlled Study to Assess the Safety, Tolerability, Pharmacokinetics, and Pharmacodynamics of Single-Ascending Doses of PGN-EDODM1 in Adult Participants with Myotonic Dystrophy Type 1.

    SPONSOR: PepGen Inc.

    INDICATION: Myotonic Dystrophy Type 1

    PROTOCOL: PGN-EDODM1-101

    PHASE: 1

    DESCRIPTION: This is a Phase 1, multi-center, randomized, double-blind, placebo-controlled, single-ascending dose (SAD) study to evaluate safety, tolerability, PK, and PD of PGN-EDODM1 in adults with DM1. The study will be conducted in 3 cohorts consisting of 8 participants per cohort who will be randomized to receive a single dose of PGN-EDODM1 or placebo in a 3:1 ratio (6 active, 2 placebo).

    STATUS: Active

    RECRUITING PATIENTS: Yes

    RDR LOCATION: Georgia

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Past Trials

  • TITLE: A Randomized, Double-Blind, Placebo-Controlled Study to Evaluate the Safety and Efficacy of Pitolisant on Excessive Daytime Sleepiness and Other Non-Muscular Symptoms in Patients with Myotonic Dystrophy Type 1, Followed by an Open-Label Extension

    SPONSOR: Harmony Biosciences, LLC

    INDICATION: Myotonic Dystrophy Type 1

    PROTOCOL: HBS-101-CL-005

    PHASE: 2

    DESCRIPTION: The primary objective of this study is to evaluate the safety and efficacy of pitolisant compared with placebo in treating excessive daytime sleepiness (EDS) in patients with myotonic dystrophy type 1 (DM1) ages 18 to 65 years.

    STATUS: Completed

    RECRUITING PATIENTS: No

    RDR LOCATION: Georgia