The Spanish National Registry for Myotonic Dystrophy Type 1

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.

Conditions

• Myotonic Dystrophy 1
• DM1
• Myotonic Dystrophy Type 1
• Myotonic Dystrophy, Congenital
• Steinert Disease

Interventions

OTHER

Patient Registry

Patient Registry

Sponsors & Collaborators

• Instituto de Investigacion Sanitaria INCLIVA

  collaborator OTHER

• Biobizkaia

  collaborator UNKNOWN

• Biogipuzkoa Health Research Institute

  collaborator OTHER

• Germans Trias i Pujol Hospital

  collaborator OTHER

• Hospital Infanta Sofia

  collaborator OTHER

• Hospital de Basurto

  collaborator OTHER

• Hospital Donostia

  collaborator OTHER

• Hospital Universitario Virgen del Rocio

  collaborator UNKNOWN

• Hospital Universitario Marqués de Valdecilla

  collaborator OTHER

• Complejo Hospitalario Universitario de Albacete

  collaborator OTHER

• Hospital Universitario La Fe

  collaborator OTHER

• Hospital Univeritario Ntra. Sra. de la Candelaria

  collaborator UNKNOWN

• Fundació Institut Germans Trias i Pujol

  lead OTHER

Principal Investigators

• Gisela Nogales Gadea, Ph.D. · Germans Trias i Pujol Research Institute

• Arturo Lopez Castel, Ph.D. · INCLIVA Instituto de Investigación Sanitaria

• Virginia Arechavala-Gomeza, Ph.D. · IIS Biobizkaia

Eligibility

Sex

ALL

Healthy Volunteers

Yes

Timeline & Regulatory

Start

2025-06-02

Primary Completion

2026-12-31

Completion

2026-12-31

Countries

• Spain