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Disease

Myotonic Dystrophy

Late-stage therapeutic developmentEmerging research
MeSHMyotonic Dystrophy
1
Publications
15
Clinical trials
2023
Latest publication
Latest activity
beta

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

What's happening now

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

Executive briefingUpdating summary…Momentum: Moderate
Key developments
  • 3 clinical trials expected to report results, the earliest in Q4 2026.
Upcoming Milestones
Clinical Milestones7View
Results posted 1
Results expected 3
Recently completed 3
Activity timeline7

Clinical trials

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

The current development programme across all trial phases.

Clinical programme
15
All trials
6
Active
9
Late-stage
6
Completed
Late-stage studies

A Phase 3, Randomized, Double-Blind, 48-Week Placebo-Controlled Study to Assess the Efficacy, Safety, and Tolerability of DYNE-101 Administered to Participants With Myotonic Dystrophy Type 1

Phase 3 · Recruiting · Dyne Therapeutics

An Open-Label Study to Evaluate the Long-Term Safety and Efficacy of Tideglusib for the Treatment of Congenital or Childhood Onset DM1 (REACH CDM X)

Phase 2/3 · Recruiting · AMO Pharma Limited

Evaluation of the Efficacy and Safety of Metformin in the Myotonic Dystrophy Type 1 (Steinert's Disease). A Phase III, Prospective, Multicentre, Randomized, Double-blind Controlled Study

Phase 3 · Recruiting · Assistance Publique - Hôpitaux de Paris

A Phase 3 Randomized, Double-Blind, Placebo-Controlled, Global Study to Evaluate the Efficacy and Safety of Intravenous AOC 1001 for the Treatment of Myotonic Dystrophy Type 1

Phase 3 · Active, not recruiting · Avidity Biosciences, Inc.

A Randomized, Double-Blind, Placebo-Controlled, Multi-Center Study to Investigate the Efficacy and Safety of Once Daily Mexiletine PR During 26 Weeks of Treatment in Patients With Myotonic Dystrophy Type 1 and Type 2 (Phase 3)

Phase 3 · Recruiting · Lupin Ltd.

An Open-label, Non-Comparative Study to Evaluate the Steady-State Pharmacokinetics, Safety, and Efficacy of Mexiletine in Adolescents and Children With Myotonic Disorders

Phase 3 · Completed · Lupin Ltd.
Recruiting

A Phase 3, Randomized, Double-Blind, 48-Week Placebo-Controlled Study to Assess the Efficacy, Safety, and Tolerability of DYNE-101 Administered to Participants With Myotonic Dystrophy Type 1

Phase 3 · Recruiting · Dyne Therapeutics

An Open-Label Study to Evaluate the Long-Term Safety and Efficacy of Tideglusib for the Treatment of Congenital or Childhood Onset DM1 (REACH CDM X)

Phase 2/3 · Recruiting · AMO Pharma Limited

Evaluation of the Efficacy and Safety of Metformin in the Myotonic Dystrophy Type 1 (Steinert's Disease). A Phase III, Prospective, Multicentre, Randomized, Double-blind Controlled Study

Phase 3 · Recruiting · Assistance Publique - Hôpitaux de Paris

A Randomized, Double-Blind, Placebo-Controlled, Multi-Center Study to Investigate the Efficacy and Safety of Once Daily Mexiletine PR During 26 Weeks of Treatment in Patients With Myotonic Dystrophy Type 1 and Type 2 (Phase 3)

Phase 3 · Recruiting · Lupin Ltd.

A Phase 2 Randomized, Double-Blind, Placebo-Controlled, Multiple Ascending Dose Study of PGN-EDODM1 in Adult Participants With Myotonic Dystrophy Type 1 (FREEDOM2-DM1)

Phase 2 · Recruiting · PepGen Inc
Recently completed

A Phase 2 Extension Study to Evaluate the Long-Term Safety, Tolerability, Efficacy, Pharmacokinetics, and Pharmacodynamics of AOC 1001 Administered Intravenously to Adult Myotonic Dystrophy Type 1 (DM1) Patients

Phase 2 · Completed · Avidity Biosciences, Inc.

An Open-label, Non-Comparative Study to Evaluate the Steady-State Pharmacokinetics, Safety, and Efficacy of Mexiletine in Adolescents and Children With Myotonic Disorders

Phase 3 · Completed · Lupin Ltd.

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

Phase 2 · Completed · Harmony Biosciences Management, Inc.

A Randomized, Double-Blind Study to Evaluate the Efficacy and Safety of Tideglusib Versus Placebo for the Treatment of Children and Adolescents With Congenital Myotonic Dystrophy (REACH CDM)

Phase 2/3 · Completed · AMO Pharma Limited

A Randomized, Double-Blind, Placebo-Controlled, Phase 1/2 Study to Evaluate the Safety, Tolerability, Pharmacokinetics and Pharmacodynamics of Single and Multiple-Doses of AOC 1001 Administered Intravenously to Adult Myotonic Dystrophy Type 1 (DM1) Patients

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

Phase 3 Study of Oral Dehydroepiandrosterone (DHEA) in Adults With Myotonic Dystrophy

Phase 2/3 · Completed · University of Versailles

Research activity

1 papers

Key research shaping understanding of this disease, combining the latest publications with the most influential evidence.

Major themes2
  • Huntington Disease1
  • Myotonic Dystrophy1
Leading journals1
  • The Journal of clinical investigation1
Leading researchers8
  • Araki K1
  • Asamitsu S1
  • Bando T1
  • Hirose Y1
  • Hori K1
  • Ikenoshita S1
  • Kawakubo K1
  • Matsuo K1
Affiliations (unnormalised)6
  • Center for Metabolic Regulation of Healthy Aging1
  • Graduate School of Medical Sciences.1
  • Graduate School of Pharmaceutical Sciences1
  • Graduate School of Science1
  • Institute for Integrated Cell-Material Science (iCeMS)1
  • Institute of Molecular Embryology and Genetics (IMEG).1

Reference

Authoritative identity, definition & identifiers.

Defined in MeSH

Neuromuscular disorder characterized by PROGRESSIVE MUSCULAR ATROPHY; MYOTONIA, and various multisystem atrophies. Mild INTELLECTUAL DISABILITY may also occur. Abnormal TRINUCLEOTIDE REPEAT EXPANSION in the 3' UNTRANSLATED REGIONS of DMPK PROTEIN gene is associated with Myotonic Dystrophy 1. DNA REPEAT EXPANSION of zinc finger protein-9 gene intron is associated with Myotonic Dystrophy 2.

Identifiers
MeSHMyotonic Dystrophy
References & data sources
  • Disease identity & definition — NLM Medical Subject Headings (MeSH), public domain
  • Clinical trials — ClinicalTrials.gov (U.S. National Library of Medicine)
  • Research activity — Europe PMC (EMBL-EBI) + OpenAlex-derived paper links
  • Related entities are derived from literature co-mention (studied together) — associative, not causal.