The Spanish National Registry for Myotonic Dystrophy Type 1 (DM1-Hub)

Fundació Institut Germans Trias i Pujol

Status: Enrolling

Conditions: Myotonic Dystrophy Type 1; Myotonic Dystrophy 1; DM1; Steinert Disease; Myotonic Dystrophy, Congenital

Treatments: Other: Patient Registry

Study type: Observational

Funder types: Other

Identifiers

NCT07385443

PMPER24/00007

Details and patient eligibility

About

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.

Full description

The DM1-Hub Patient Registry (https://www.dm1spain.com/) aims to recruit individuals living in Spain with a confirmed genetic diagnosis of myotonic dystrophy type 1 (DM1). Participants may be referred by healthcare professionals or patient organizations. They may also learn about the registry through outreach activities, informational materials, collaborations with national and local patient associations, DM1-Hub events, or through their own online searches.

After completing the informed consent process with their neurologist, participants are connected with the DM1-Hub patient support staff assigned to their hospital. An appointment is scheduled, and all the data collected is entered into the REDCap database.

The objective of this study is to establish a Natural History Patient Registry for individuals with DM1 in Spain. Participants will be invited to take part in follow-up assessments to support the characterization of disease progression over time. A parallel control group will also be recruited to facilitate biomarker discovery and improve understanding of factors associated with disease prognosis.

Enrollment: 3,000 estimated patients

Sex: All

Volunteers: Accepts Healthy Volunteers

Inclusion criteria

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

Exclusion criteria

• There are no exclusion criteria for the registry

Trial design

3,000 participants in 2 patient groups

Myotonic Dystrophy Type 1 (DM1)

Description:

The group included Individuals with a confirmed genetic diagnosis of Myotonic Dystrophy Type 1 (DM1)

Treatment:

Other: Patient Registry

Control

Description:

The group included control subjects as individuals without a genetic diagnosis of Myotonic Dystrophy Type 1 (DM1).

Treatment:

Other: Patient Registry