Spanish National Registry for Myotonic Dystrophy Type 1 DM1 Collecting Clinical, Genomic, Epigenomic, and Proteomic Data

What this Trial Is About

Myotonic Dystrophy Type 1 DM1 is a rare genetic neuromuscular disorder that affects multiple organs and varies widely in its symptoms. It is the most common adult-onset muscular dystrophy, with a prevalence of about 1-5 per 10,000 people, and shows distinct regional differences in Spain. The study aims to create a national registry to better understand the characteristics and progression of DM1 within the Spanish population. The study collects patient-reported information, clinical data, and omics data through the DM1-Hub Patient Registry. Participants include individuals with a confirmed genetic diagnosis of DM1 and a control group without the disease. After informed consent, participants are connected to support staff at their hospital for data collection, which is entered into a secure database. Follow-up assessments are planned to track disease progression and support biomarker discovery. Participants will undergo various assessments including genomic, proteomic, neuropsychological tests, physical function tests such as hand grip strength and walking tests, and several patient-reported outcomes covering quality of life, fatigue, sleepiness, and mental health. The study includes clinical evaluations like electrocardiograms and respiratory function tests. Data collected will help researchers understand disease progression and improve future clinical trials. Participation may continue over time with regular follow-ups.

The Spanish National Registry for Myotonic Dystrophy Type 1