Creación de un Nodo Integral Para la Distrofia Miotónica Tipo 1 en España: Registro clínico, Mapas genómicos, epigenómicos y proteómicos (DM1-Hub)

Status: Recruiting
Location: See all (8) locations...
Intervention Type: Other
Study Type: Observational
SUMMARY

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 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.

Eligibility
Participation Requirements
Sex: All
Healthy Volunteers: t
View:

• Confirmed diagnosis of Myotonic Dystrophy Type 1 (DM1) through genetic testing.

Locations
Other Locations
Spain
Hospitals within the DM1 network
RECRUITING
Multiple Locations
Hospitals within the DM1 network
RECRUITING
Multiple Locations
Hospitals within the DM1 network
RECRUITING
Multiple Locations
Hospitals within the DM1 network
RECRUITING
Multiple Locations
Hospitals within the DM1 network
RECRUITING
Multiple Locations
Hospitals within the DM1 network
RECRUITING
Multiple Locations
Hospitals within the DM1 network
RECRUITING
Multiple Locations
Hospitals within the DM1 network
RECRUITING
Multiple Locations
Contact Information
Primary
Gisela Nogales Gadea, Ph.D.
gnogales@igtp.cat
(+34) 93 554 3050
Backup
Alvaro S Larran Mottino, Ph.D.
alarran@igtp.cat
Time Frame
Start Date: 2025-06-02
Estimated Completion Date: 2026-12-31
Participants
Target number of participants: 3000
Treatments
Myotonic Dystrophy Type 1 (DM1)
The group included Individuals with a confirmed genetic diagnosis of Myotonic Dystrophy Type 1 (DM1)
Control
The group included control subjects as individuals without a genetic diagnosis of Myotonic Dystrophy Type 1 (DM1).
Sponsors
Collaborators: Hospital Universitario La Fe, Hospital Donostia, Hospital Universitario Marqués de Valdecilla, Hospital de Basurto, Complejo Hospitalario Universitario de Albacete, Biogipuzkoa Health Research Institute, Hospital Univeritario Ntra. Sra. de la Candelaria, Germans Trias i Pujol Hospital, Biobizkaia, Hospital Universitario Virgen del Rocio, Instituto de Investigacion Sanitaria INCLIVA, Hospital Infanta Sofia
Leads: Fundació Institut Germans Trias i Pujol

This content was sourced from clinicaltrials.gov