RareWays is a research directory. It helps you understand the science. It is not medical advice. Always discuss your care options with your healthcare team.
Coverage: 2020-01-01 onwards, with up to 300 results per query from PubMed and Europe PMC and separate limits on other sources. This is a selected index, not a complete literature search.
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Myotonic Dystrophy: Research Summary
Printed from RareWays (rareways.org)
For general awareness only. Not medical advice. Discuss all care options with your healthcare team.
5 Most Recent Research Articles
- 1.
MSI2 is a druggable therapeutic target in myotonic dystrophy type 1
Dulce Peris et al., Zenodo (CERN European Organization for Nuclear Research) (16 October 2026)
https://doi.org/10.5281/zenodo.23419440
- 2.
Apathy in myotonic dystrophy type 1: prevalence, correlates, and clinical expression
Wander Jacco Adrian Aarts (15 October 2026)
https://doi.org/10.13140/rg.2.2.22290.41925
- 3.
The cognitive-behavioral missing link in myotonic dystrophy type 1: Rethinking social cognition assessment.
Costantini Emanuele Maria et al., Journal of neuromuscular diseases (15 October 2026)
https://pubmed.ncbi.nlm.nih.gov/42878154/
- 4.
The genetic landscape of myotonic dystrophy type 1: insights from nearly one million genomes.
Rahman Rezbieara P et al., Brain : a journal of neurology (10 October 2026)
https://pubmed.ncbi.nlm.nih.gov/42856061/
- 5.
A case series of hypotonia and other ocular findings in myotonic dystrophy type 1
Tamara Juvier Riesgo et al., Revista Mexicana de Oftalmología (English Edition) (8 October 2026)
https://doi.org/10.24875/rmoe.m26000292
Clinical Trials : Currently Recruiting (Australia)
Ask your doctor whether you or your child may be eligible for any of these trials. Each has its ID and full eligibility criteria at the link shown.
- 1.
Efficacy, Safety, and Tolerability of Zeleciment Basivarsen (DYNE-101) in Participants With Myotonic Dystrophy Type 1
NCT07486934 · Recruiting · Phase 3 · Dyne Therapeutics
Ages 16 and over
https://clinicaltrials.gov/study/NCT07486934
- 2.
A Study to Investigate the Safety, Tolerability, and Efficacy of SAR446268, an Adeno-associated Viral Vector-mediated Gene Therapy in Participants Aged 10 to 55 Years of Age With Non-congenital Myotonic Dystrophy Type 1
NCT06844214 · Recruiting · Phase 1 / Phase 2 · Sanofi
Ages 10 to 55
https://clinicaltrials.gov/study/NCT06844214
- 3.
Safety and Efficacy of Tideglusib in Congenital or Childhood Onset Myotonic Dystrophy
NCT05004129 · Recruiting · Phase 2 / Phase 3 · AMO Pharma Limited
Ages 6 to 45
https://clinicaltrials.gov/study/NCT05004129
Source: RareWays research directory. Data from PubMed, Europe PMC, OpenAlex, ClinicalTrials.gov.
Always verify information with your healthcare team before making any decisions about your care.
Myotonic Dystrophy
Myotonic dystrophy type 1 is the most common adult-onset muscular dystrophy, causing progressive muscle weakness, myotonia (difficulty relaxing muscles), and multi-system complications including heart rhythm problems and cataracts. It is caused by a DMPK gene expansion. There is currently no cure, but management can significantly improve quality of life.
This overview is general information, not an individual medical assessment. Research is selected automatically and may include mismatches. How we select and explain research.
Most Recent Research
Myotonic dystrophy type 1 (DM1), the most common adult-onset muscular dystrophy, is caused by toxic CUG repeat expansions in the DMPK transcript that disrupt post-transcriptional gene regulation. Despite major advances in therapeutic development, DM1 still lacks approved disease-modifying treatments. Recent studies identified Musashi-2 (MSI2) as a pathogenic regulator of skeletal muscle dysfunction in DM1, suggesting that its inhibition may represent a complementary therapeutic strategy beyond direct targeting of the DMPK-MBNL axis. Here, we developed and characterized antisense oligonucleotides (ASOs) targeting MSI2 through an integrated in silico, in vitro and in vivo screening pipeline. Screening of rationally designed candidates identified GP-89 as a lead molecule with potent MSI2 silencing activity and a favorable tolerability profile. In human DM1-derived transdifferentiated and primary muscle models, GP-89 reduced MSI2 abundance, improved myogenic differentiation and partially restored disease-associated transcriptional alterations. Transcriptomic analyses revealed recovery of dysregulated pathways related to cytoskeletal organization, intracellular transport and cellular signaling, including a subset of genes associated with MSI2 regulatory networks. In vivo, unconjugated GP-89 showed robust hepatic target engagement but limited skeletal muscle activity. An optimized dosing regimen using oleic acid (OA)-conjugated GP-89 achieved sustained MSI2 suppression across multiple skeletal muscles and peripheral tissues, with activity maintained for up to 45 days after the final administration and no evidence of overt systemic toxicity under the conditions tested. These findings establish MSI2 as a druggable therapeutic target in DM1 and provide the first pharmacological evidence that its sustained inhibition can improve disease-relevant molecular and cellular phenotypes
Common Questions
What is Myotonic Dystrophy?
Myotonic dystrophy type 1 is the most common adult-onset muscular dystrophy, causing progressive muscle weakness, myotonia (difficulty relaxing muscles), and multi-system complications including heart rhythm problems and cataracts. It is caused by a DMPK gene expansion. There is currently no cure, but management can significantly improve quality of life.
How many clinical trials are available for Myotonic Dystrophy?
RareWays currently indexes 63 clinical trials for Myotonic Dystrophy, of which 14 are actively recruiting. These counts cover indexed trials across countries, not just your country. An Australian site does not necessarily mean that site is recruiting. Check locations, eligibility and current availability with the study team.
Where does the research data for Myotonic Dystrophy come from?
RareWays aggregates research from PubMed, Europe PMC, OpenAlex, and ClinicalTrials.gov. Data is refreshed automatically every day. All articles and trials link directly to their original sources.
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