Brief 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.

Trial Health

On Track

Trial Health Score

Automated assessment based on enrollment pace, timeline, and geographic reach

Enrollment

3,000

participants targeted

Target at P75+ for all trials

Timeline

8mo left

Started Jun 2025

Geographic Reach

1 country

8 active sites

Status

recruiting

Health score is calculated from publicly available data and should be used for screening purposes only.

Trial Relationships

Click on a node to explore related trials.

Study Timeline

Key milestones and dates

1.6 years study duration

Study Progress59%

Jun 2025Dec 2026

Study Start

First participant enrolled

June 2, 2025

Completed

7 months until next milestone

First Submitted

Initial submission to the registry

December 31, 2025

Completed

1 month until next milestone

First Posted

Study publicly available on registry

February 4, 2026

Completed

11 months until next milestone

Primary Completion

Last participant's last visit for primary outcome

December 31, 2026

Expected

Same day until next milestone

Study Completion

Last participant's last visit for all outcomes

December 31, 2026

Last Updated

February 4, 2026

Status Verified

January 1, 2026

Enrollment Period

1.6 years

First QC Date

December 31, 2025

Last Update Submit

January 29, 2026

Conditions

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

Outcome Measures

Primary Outcomes (1)

Genomic Caracterization
Long-read genomic sequencing analyses encompassing CTG expansion characterization and whole-genome genetic and epigenetic profiling.
1 year, year 1

Secondary Outcomes (22)

Proteomic Characterization
1 year, year 1
WAIS IV neuropsychological tests
2 years, year 1
vHOT
1 year, year 1
Muscular Impairment Rating Scale (MIRS)
1 year, year 1
Hand Grip Strength
1 year, year 1
+17 more secondary outcomes

Study Arms (2)

Myotonic Dystrophy Type 1 (DM1)

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

Other: Patient Registry

Control

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

Other: Patient Registry

Interventions

Patient RegistryOTHER

Patient Registry

ControlMyotonic Dystrophy Type 1 (DM1)

Eligibility Criteria

Sexall

Healthy VolunteersYes

Age GroupsChild (0-17), Adult (18-64), Older Adult (65+)

Sampling MethodNon-Probability Sample

Study Population

Participants with Myotonic Dystrophy Type 1 (DM1) will volunteer to participate in this study. The study will be advertised through physician recommendations, outreach and educational activities directed at neuromuscular professionals, the registry website, national and local patient associations, and through patient-focused events, conferences, and scientific meetings across Spain.

You may qualify if:

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

Contact the study team to confirm eligibility.