The Spanish National Registry for Myotonic Dystrophy Type 1
For patients and families
In plain language
An automatic summary of structured registry data. It is an orientation aid, not a substitute for the official protocol or a physician assessment.
- What is being studied
- The protocol lists: Patient Registry.
- Who it may be relevant to
- Registry conditions: Myotonic Dystrophy 1, DM1, Myotonic Dystrophy Type 1, Myotonic Dystrophy, Congenital. Basic parameters: No limits · All.
- What needs checking
- Age, condition and sex are only basic indicators. Prior treatment, laboratory values and other mandatory requirements appear in the eligibility criteria below.
- Where it takes place
- Spain
- Next step
- Save the trial, show it to the treating physician, and confirm current recruitment with the study center. Costs, documents and travel →
Unsure about the terms? Read our patient guide →
Official title
Creación de un Nodo Integral Para la Distrofia Miotónica Tipo 1 en España: Registro clínico, Mapas genómicos, epigenómicos y proteómicos (DM1-Hub)
Overview
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.
Detailed 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.
Interventions
- Other Patient Registry
Patient Registry
Primary outcome measures
- Genomic Caracterization [Time frame: 1 year, year 1]
Secondary outcome measures (12)
- Proteomic Characterization [Time frame: 1 year, year 1]
- WAIS IV neuropsychological tests [Time frame: 2 years, year 1]
- vHOT [Time frame: 1 year, year 1]
- Muscular Impairment Rating Scale (MIRS) [Time frame: 1 year, year 1]
- Hand Grip Strength [Time frame: 1 year, year 1]
- 6MWT [Time frame: 1 year, year 1]
- 10MWRT [Time frame: 1 year, year 1]
- 30CST [Time frame: 1 year, year 1]
- FVC [Time frame: 1 year, year 1]
- Electrocardiogram (ECG) [Time frame: 1 year, year 1]
- BMI [Time frame: 1 year, year 1]
- OBGYN events [Time frame: 1 year, year 1]
Eligibility criteria
Inclusion criteria
- Confirmed diagnosis of Myotonic Dystrophy Type 1 (DM1) through genetic testing.
Exclusion criteria
- There are no exclusion criteria for the registry
Criteria are shown verbatim from the registry (in English). Final eligibility is always assessed by the study center.
Healthy volunteers: Yes
Study design
- Observational model
- Cohort
Study locations
Spain · 8 centers
- Hospitals within the DM1 network — Multiple Locations
- Hospitals within the DM1 network — Multiple Locations
- Hospitals within the DM1 network — Multiple Locations
- Hospitals within the DM1 network — Multiple Locations
- Hospitals within the DM1 network — Multiple Locations
- Hospitals within the DM1 network — Multiple Locations
- Hospitals within the DM1 network — Multiple Locations
- Hospitals within the DM1 network — Multiple Locations
Identifiers
NCT: NCT07385443 · PMPER24/00007