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The Spanish National Registry for Myotonic Dystrophy Type 1

Myotonic Dystrophy Type 1 (DM1) is a rare genetic neuromuscular condition that can affect multiple organs and varies widely in how it presents. DM1 is the most common form of adult-onset muscular dystrophy, with an estimated prevalence of approximately 1-5 per 10,000 people. In Spain, the condition shows notable region

Condition(s)Myotonic Dystrophy 1, DM1, Myotonic Dystrophy Type 1, Myotonic Dystrophy, Congenital, Steinert Disease
StatusRecruiting
Study typeObservational
SummaryMyotonic Dystrophy Type 1 (DM1) is a rare genetic neuromuscular condition that can affect multiple organs and varies widely in how it presents. DM1 is the most common form of adult-onset muscular dystrophy, with an estimated prevalence of approximately 1-5 per 10,000 people. In Spain, the condition shows notable regional differences, making it especially important to understand its characteristics within the population. The aim of this study is to support a research initiative designed to better characterise DM1. We are developing a comprehensive national registry, collecting patient-reported information, clinical data and omics data that will improve our understanding of the disease and help identify individuals who may be eligible for clinical trials.
Who can participateInclusion Criteria: * Confirmed diagnosis of Myotonic Dystrophy Type 1 (DM1) through genetic testing. Exclusion Criteria: * There are no exclusion criteria for the registry
SexAll
Accepts healthy volunteersYes
Lead sponsorFundació Institut Germans Trias i Pujol
LocationsMultiple Locations, Andalusia, Spain; Multiple Locations, Basque Country, Spain; Multiple Locations, Canary Islands, Spain; Multiple Locations, Cantabria, Spain; Multiple Locations, Castilla-La Macha, Spain; Multiple Locations, Catalonia, Spain (+2 more sites)
Start date2025-06-02
NCT IDNCT07385443
Official listinghttps://clinicaltrials.gov/study/NCT07385443

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