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

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

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.

Study Overview

• Status: Recruiting
• Conditions: Myotonic Dystrophy Type 1; Myotonic Dystrophy 1; DM1; Steinert Disease; Myotonic Dystrophy, Congenital
• Intervention / Treatment: Other: Patient Registry

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.

• Study Type: Observational
• Enrollment (Estimated): 3000

Contacts and Locations

• Study Contact: Name: Gisela Nogales Gadea, Ph.D.; Phone Number: (+34) 93 554 3050; Email: gnogales@igtp.cat
• Study Contact Backup: Name: Alvaro S Larran Mottino, Ph.D.; Email: alarran@igtp.cat

Study Locations

• Spain
  • Andalusia
    • Multiple Locations, Andalusia, Spain
      • Recruiting
      • Hospitals within the DM1 network
      • Contact: Dr. Macarena Cabrera; Phone Number: (+34) 93 554 3050; Email: dm1-hub@igtp.cat
      • Principal Investigator: Dr. Macarena Cabrera
  • Basque Country
    • Multiple Locations, Basque Country, Spain
      • Recruiting
      • Hospitals within the DM1 network
      • Contact: Dr. Andone Sistiaga; Phone Number: (+34) 93 554 3050; Email: dm1-hub@igtp.cat
      • Principal Investigator: Dr. Andone Sistiaga
  • Canary Islands
    • Multiple Locations, Canary Islands, Spain
      • Recruiting
      • Hospitals within the DM1 network
      • Contact: Dr. Jorge Alonso; Phone Number: (+34) 93 554 3050; Email: dm1-hub@igtp.cat
      • Principal Investigator: Dr. Jorge Alonso
  • Cantabria
    • Multiple Locations, Cantabria, Spain
      • Recruiting
      • Hospitals within the DM1 network
      • Contact: Dr. Ana Lara Pelayo; Phone Number: (+34) 93 554 3050; Email: dm1-hub@igtp.cat
      • Principal Investigator: Dr. Ana Lara Pelayo
  • Castilla-La Macha
    • Multiple Locations, Castilla-La Macha, Spain
      • Recruiting
      • Hospitals within the DM1 network
      • Contact: Dr. Jorge García; Phone Number: (+34) 93 554 3050; Email: dm1-hub@igtp.cat
      • Principal Investigator: Dr. Jorge García
  • Catalonia
    • Multiple Locations, Catalonia, Spain
      • Recruiting
      • Hospitals within the DM1 network
      • Contact: Dr. Sebastián Figueroa; Phone Number: (+34) 93 554 3050; Email: dm1-hub@igtp.cat
      • Principal Investigator: Dr. Sebastián Figueroa
  • Madrid
    • Multiple Locations, Madrid, Spain
      • Recruiting
      • Hospitals within the DM1 network
      • Contact: Dr. Gerardo Gutiérrez; Phone Number: (+34) 93 554 3050; Email: dm1-hub@igtp.cat
      • Principal Investigator: Dr. Gerardo Gutiérrez
  • Valencia
    • Multiple Locations, Valencia, Spain
      • Recruiting
      • Hospitals within the DM1 network
      • Contact: Dr. Nuria Muelas; Phone Number: (+34) 93 554 3050; Email: dm1-hub@igtp.cat
      • Principal Investigator: Dr. Nuria Muelas

Participation Criteria

Eligibility Criteria

• Ages Eligible for Study: Child; Adult; Older Adult
• Accepts Healthy Volunteers: Yes

• Sampling Method: Non-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.

Description

Inclusion Criteria:

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

Exclusion Criteria:

• There are no exclusion criteria for the registry

Study Plan

How is the study designed?

Number of groups / cohorts

2

Cohorts and Interventions

Group / Cohort	Intervention / Treatment
Myotonic Dystrophy Type 1 (DM1); The group included Individuals with a confirmed genetic diagnosis of Myotonic Dystrophy Type 1 (DM1)	Other: Patient Registry; Patient Registry
Control; The group included control subjects as individuals without a genetic diagnosis of Myotonic Dystrophy Type 1 (DM1).	Other: Patient Registry; Patient Registry

What is the study measuring?

Primary Outcome Measures

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

Secondary Outcome Measures

Outcome Measure	Measure Description	Time Frame
Proteomic Characterization	Biomarker evaluation	1 year, year 1
WAIS IV neuropsychological tests	IQ, memory, attention, language	2 years, year 1
vHOT	Video Hand Opening Time, clinical measure for Myotonic Dystrophy (DM1) tracking hand reopening speed	1 year, year 1
Muscular Impairment Rating Scale (MIRS)	The Muscular Impairment Rating Scale is a 5-point ordinal clinical scale used to evaluate the severity of muscular impairment in patients with myotonic dystrophy. Scores range from 1 (minimal or no impairment) to 5 (severe muscle impairment). Higher scores indicate worse functional impairment.	1 year, year 1
Hand Grip Strength	Hand grip strength is assessed as a measure of upper limb muscle strength using a hand-held dynamometer. Grip strength is measured separately in the dominant and non-dominant hand, and recorded in kilograms (kg). For each hand, three consecutive attempts are performed, alternating between hands to minimize fatigue. The maximum value (best of three attempts) for each hand is recorded and used for analysis. Higher values indicate better muscle strength and functional outcome, while lower values reflect greater muscular impairment.	1 year, year 1
6MWT	Six-Minute Walk Test	1 year, year 1
10MWRT	10-meter Walk/Run Test	1 year, year 1
30CST	30-Second Chair Stand Test	1 year, year 1
FVC	Forced Vital Capacity (L)	1 year, year 1
Electrocardiogram (ECG)	The following ECG-derived parameters and abnormalities are recorded: PR interval duration (milliseconds); QRS complex duration (milliseconds); Presence of atrioventricular block (AV block) (yes/no), and AV block grade when present (first degree, second degree Mobitz I, second degree Mobitz II, third degree); Presence of supraventricular arrhythmias (yes/no); Presence of ventricular arrhythmias (yes/no); Other electrocardiographic abnormalities, recorded as free text when applicable All measurements are extracted from the ECG tracing according to standard clinical practice. Higher PR or QRS durations and the presence of conduction abnormalities or arrhythmias indicate greater cardiac involvement, while normal values and absence of abnormalities indicate preserved cardiac electrical function.	1 year, year 1
BMI	Body Mass Index	1 year, year 1
OBGYN events	Collection of gynecological clinical history and relevant reproductive health events for participants who opt to provide this information.	1 year, year 1
GI symptomatology	Collection of participant-reported gastrointestinal symptoms and related clinical information.	1 year, year 1
MBS (Myotonia Behaviour Scale)	Myotonia severity is assessed using the Myotonia Behaviour Scale (MBS), a clinician-reported ordinal scale that evaluates the functional impact of myotonia-related muscle stiffness on daily activities. The scale ranges from 0 to 5, with higher scores indicating greater severity and functional interference due to myotonia: 0: No muscle stiffness; Mild stiffness present but easily ignored; Stiffness present and occasionally noticeable but does not interfere with daily activities; Stiffness requiring increased concentration to perform certain tasks or activities; Stiffness interfering with all tasks and daily activities; Severe, disabling stiffness requiring constant movement to avoid complete motor blockage Lower scores reflect minimal or absent myotonia, while higher scores reflect greater functional impairment due to myotonia.	1 year, year 1
Modified Rankin Scale (mRS)	Global disability is assessed using the Modified Rankin Scale (mRS), a widely used ordinal scale measuring the degree of disability or dependence in daily activities. The scale ranges from 0 to 6, with higher scores indicating greater disability or death: 0: No symptoms; No significant disability; able to carry out all usual activities despite symptoms; Slight disability; unable to perform all previous activities but able to manage own affairs without assistance; Moderate disability; requiring some help but able to walk without assistance; Moderately severe disability; unable to walk without assistance and unable to attend to bodily needs without help; Severe disability; bedridden, incontinent, and requiring constant nursing care and attention; Death	1 year, year 1
Patient-Reported Outcome: Quality of life	INQoL (Individualized Neuromuscular Quality of Life Questionnaire)	1 year, year 1
Patient-Reported Outcome: Fatigue	FSS (Fatigue Severity Scale )	1 year, year 1
Patient-Reported Outcome: Dietary Habits	MEDAS-14 (Mediterranean Diet Adherence Screener)	1 year, year 1
Patient-Reported Outcome: Sleepiness	DSS (Daytime Sleepiness Scale)	1 year, year 1
Patient-Reported Outcome: Apathy	AES (Apathy Evaluation Scale)	1 year, year 1
Patient-Reported Outcome: Physical Activity	IPAQ (International Physical Activity Questionnaire)	1 year, year 1
Patient-Reported Outcome: Mental Health	MHI-5 (Mental Health Inventory)	1 year, year 1

Collaborators and Investigators

• Sponsor: Fundació Institut Germans Trias i Pujol
• Collaborators: Germans Trias i Pujol Hospital; Hospital Donostia; Hospital de Basurto; Hospital Universitario La Fe; Complejo Hospitalario Universitario de Albacete; Hospital Universitario Marqués de Valdecilla; Hospital Infanta Sofia; Hospital Univeritario Ntra. Sra. de la Candelaria; Instituto de Investigacion Sanitaria INCLIVA; Biogipuzkoa Health Research Institute; Hospital Universitario Virgen del Rocio; Biobizkaia
• Investigators: Study Director: Gisela Nogales Gadea, Ph.D., Germans Trias i Pujol Research Institute; Principal Investigator: Arturo Lopez Castel, Ph.D., INCLIVA Instituto de Investigación Sanitaria; Principal Investigator: Virginia Arechavala-Gomeza, Ph.D., IIS Biobizkaia

Publications and helpful links

Helpful Links

• DM1-Hub webpage

Study record dates

Study Major Dates

• Study Start (Actual): June 2, 2025
• Primary Completion (Estimated): December 31, 2026
• Study Completion (Estimated): December 31, 2026

Study Registration Dates

• First Submitted: December 31, 2025
• First Submitted That Met QC Criteria: January 29, 2026
• First Posted (Actual): February 4, 2026

Study Record Updates

• Last Update Posted (Actual): February 4, 2026
• Last Update Submitted That Met QC Criteria: January 29, 2026
• Last Verified: January 1, 2026

More Information

Terms related to this study

• Additional Relevant MeSH Terms: Musculoskeletal Diseases; Nervous System Diseases; Muscular Diseases; Neuromuscular Diseases; Genetic Diseases, Inborn; Neurodegenerative Diseases; Heredodegenerative Disorders, Nervous System; Muscular Disorders, Atrophic; Muscular Dystrophies; Myotonic Disorders; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Myotonic Dystrophy
• Other Study ID Numbers: PMPER24/00007

Plan for Individual participant data (IPD)

• Plan to Share Individual Participant Data (IPD)?: UNDECIDED

Drug and device information, study documents

• Studies a U.S. FDA-regulated drug product: No
• Studies a U.S. FDA-regulated device product: No