Myotonic Dystrophy 1DM1-HubNCT07385443
The Spanish National Registry for Myotonic Dystrophy Type 1
An observational study of Myotonic Dystrophy 1 and DM1, run by Fundació Institut Germans Trias i Pujol at 8 sites in Spain.
Trial 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. Read more about this study
- Who is it for?
- Any ageHealthy volunteers can take part
- Conditions the study is for
- Myotonic Dystrophy 1, DM1, Myotonic Dystrophy Type 1
- What is being tested?
- Patient Registry
- How many people
- 3,000 participants
- Where
- 8 sitesSpain
- Study dates
- 2 Jun 2025to 31 Dec 2035
- How long will I take part?
- 10 Years
- Phase
- Observational
- Are there results?
- Not yet: the study is under way
Key requirements
Who can take part, as listed by the sponsor. Only the study team can confirm whether you are eligible, so take this list to your doctor.
- Ages Any age
- All sexes
- Healthy volunteers accepted
- Child, Adult, Older adult
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.
Who may be able to join
- Confirmed diagnosis of Myotonic Dystrophy Type 1 (DM1) through genetic testing.
Who cannot join
- There are no exclusion criteria for the registry
Trial locations and contacts
8 sites in 1 country. Contact the study team or a site near you to ask about taking part.
Alvaro S Larran Mottino, Ph.D. contact
8 sites in 1 country
Spain8 sites, 8 recruiting
- Recruiting
Hospitals within the DM1 network
Multiple Locations, Andalusia
Dr. Macarena Cabrera, (+34) 93 554 3050, dm1-hub@igtp.cat
Dr. Macarena Cabrera
- Recruiting
Hospitals within the DM1 network
Multiple Locations, Basque Country
Dr. Andone Sistiaga, (+34) 93 554 3050, dm1-hub@igtp.cat
Dr. Andone Sistiaga
- Recruiting
Hospitals within the DM1 network
Multiple Locations, Canary Islands
Dr. Jorge Alonso, (+34) 93 554 3050, dm1-hub@igtp.cat
Dr. Jorge Alonso
- Recruiting
Hospitals within the DM1 network
Multiple Locations, Cantabria
Dr. Ana Lara Pelayo, (+34) 93 554 3050, dm1-hub@igtp.cat
Dr. Ana Lara Pelayo
- Recruiting
Hospitals within the DM1 network
Multiple Locations, Castilla-La Macha
Dr. Jorge García, (+34) 93 554 3050, dm1-hub@igtp.cat
Dr. Jorge García
- Recruiting
Hospitals within the DM1 network
Multiple Locations, Catalonia
Dr. Sebastián Figueroa, (+34) 93 554 3050, dm1-hub@igtp.cat
Dr. Sebastián Figueroa
- Recruiting
Hospitals within the DM1 network
Multiple Locations, Madrid
Dr. Gerardo Gutiérrez, (+34) 93 554 3050, dm1-hub@igtp.cat
Dr. Gerardo Gutiérrez
- Recruiting
Hospitals within the DM1 network
Multiple Locations, Valencia
Dr. Nuria Muelas, (+34) 93 554 3050, dm1-hub@igtp.cat
Dr. Nuria Muelas
About this study
Official title: 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.
Read the 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.
- Conditions
- Myotonic Dystrophy 1, DM1, Myotonic Dystrophy Type 1, Myotonic Dystrophy, Congenital, Steinert Disease
- Being tested
- Patient Registry
- Medical subject headings
- Myotonic Dystrophy
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
Patient RegistryOther
Patient Registry
| Study group | Role | What they receive |
|---|---|---|
| Myotonic Dystrophy Type 1 (DM1) | The group included Individuals with a confirmed genetic diagnosis of Myotonic Dystrophy Type 1 (DM1) Receives: Other: Patient Registry | |
| Control | The group included control subjects as individuals without a genetic diagnosis of Myotonic Dystrophy Type 1 (DM1). Receives: Other: Patient Registry |
What is being measured
The primary outcome is the main question the study is designed to answer.
Genomic Caracterization
Long-read genomic sequencing analyses encompassing CTG expansion characterization and whole-genome genetic and epigenetic profiling.
Measured: 1 year, year 1
Secondary outcomes (22)
Proteomic Characterization
Biomarker evaluation
Measured: 1 year, year 1
WAIS IV neuropsychological tests
IQ, memory, attention, language
Measured: 2 years, year 1
vHOT
Video Hand Opening Time, clinical measure for Myotonic Dystrophy (DM1) tracking hand reopening speed
Measured: 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.
Measured: 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.
Measured: 1 year, year 1
6MWT
Six-Minute Walk Test
Measured: 1 year, year 1
10MWRT
10-meter Walk/Run Test
Measured: 1 year, year 1
30CST
30-Second Chair Stand Test
Measured: 1 year, year 1
FVC
Forced Vital Capacity (L)
Measured: 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.
Measured: 1 year, year 1
BMI
Body Mass Index
Measured: 1 year, year 1
OBGYN events
Collection of gynecological clinical history and relevant reproductive health events for participants who opt to provide this information.
Measured: 1 year, year 1
GI symptomatology
Collection of participant-reported gastrointestinal symptoms and related clinical information.
Measured: 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.
Measured: 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
Measured: 1 year, year 1
Patient-Reported Outcome: Quality of life
INQoL (Individualized Neuromuscular Quality of Life Questionnaire)
Measured: 1 year, year 1
Patient-Reported Outcome: Fatigue
FSS (Fatigue Severity Scale )
Measured: 1 year, year 1
Patient-Reported Outcome: Dietary Habits
MEDAS-14 (Mediterranean Diet Adherence Screener)
Measured: 1 year, year 1
Patient-Reported Outcome: Sleepiness
DSS (Daytime Sleepiness Scale)
Measured: 1 year, year 1
Patient-Reported Outcome: Apathy
AES (Apathy Evaluation Scale)
Measured: 1 year, year 1
Patient-Reported Outcome: Physical Activity
IPAQ (International Physical Activity Questionnaire)
Measured: 1 year, year 1
Patient-Reported Outcome: Mental Health
MHI-5 (Mental Health Inventory)
Measured: 1 year, year 1
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted4 Feb 2026
- Study start2 Jun 2025
- Primary completion31 Dec 2026 (estimated)
- Study completion31 Dec 2035 (estimated)
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Other trials for Myotonic Dystrophy 1Studies of the same condition, open and under way.
- What the trial phases meanHow a treatment moves from first tests in people to approval.
More details
For doctors and researchers: how the study is designed, who runs it, and its registry IDs.
Study design
- Study type
- Observational
- Observational model
- Cohort
- Time perspective
- Prospective
- Enrolment
- 3,000 participants (estimated)
- Target duration
- 10 Years
Sponsor and investigators
- Lead sponsor
- Fundació Institut Germans Trias i Pujol
- Sponsor type
- University, hospital or other
- Collaborators
- Instituto de Investigacion Sanitaria INCLIVA, Biobizkaia Health Research Institute, Biogipuzkoa Health Research Institute, Germans Trias i Pujol Hospital, Hospital Infanta Sofia, Hospital de Basurto, Hospital Donostia, Hospitales Universitarios Virgen del Rocío, Hospital Universitario Marqués de Valdecilla, Complejo Hospitalario Universitario de Albacete, Hospital Universitario La Fe, Hospital Univeritario Ntra. Sra. de la Candelaria
- Responsible party
- Sponsor
- Investigators
- Gisela Nogales Gadea, Ph.D., Study director, Germans Trias i Pujol Research InstituteArturo Lopez Castel, Ph.D., Principal investigator, INCLIVA Instituto de Investigación SanitariaVirginia Arechavala-Gomeza, Ph.D., Principal investigator, IIS Biobizkaia
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT07385443
- Sponsor's protocol ID
- PMPER24/00007
- Acronym
- DM1-Hub
- Status last verified
- Jan 2026
- First submitted
- 31 Dec 2025
- Last updated
- 3 Nov 2026
- Results posted
- No
- Data monitoring committee
- No
- FDA-regulated drug
- No
- FDA-regulated device
- No
- Individual data sharing
- Undecided
Study at a glance
From the registry record, last updated by the sponsor on 3 Nov 2026. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Creación de un Nodo Integral Para la Distrofia Miotónica Tipo 1 en España: Registro clínico, Mapas genómicos, epigenómicos y proteómicos (DM1-Hub)
- ClinicalTrials.gov ID
- NCT07385443
- Acronym / sponsor ID
- DM1-Hub / PMPER24/00007
- Conditions
- Myotonic Dystrophy 1, DM1, Myotonic Dystrophy Type 1, Myotonic Dystrophy, Congenital, Steinert Disease
- Study type
- Observational
- Recruitment status
- Recruiting
- Enrolment
- 3,000 participants (estimated)
- Lead sponsor
- Fundació Institut Germans Trias i PujolUniversity, hospital or other
- Collaborators
- Instituto de Investigacion Sanitaria INCLIVA, Biobizkaia Health Research Institute, Biogipuzkoa Health Research Institute, Germans Trias i Pujol Hospital, Hospital Infanta Sofia, Hospital de Basurto, Hospital Donostia, Hospitales Universitarios Virgen del Rocío, Hospital Universitario Marqués de Valdecilla, Complejo Hospitalario Universitario de Albacete, Hospital Universitario La Fe, Hospital Univeritario Ntra. Sra. de la Candelaria
- Study start
- 2 Jun 2025 (actual)
- Primary completion
- 31 Dec 2026 (estimated)
- Study completion
- 31 Dec 2035 (estimated)
- First posted
- 4 Feb 2026 (actual)
- Results
- Not posted in the source record
Clinical summary
The research question as the sponsor registered it. This describes what the study plans to test, not what it found.
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.
Study design
- Observational model
- Cohort
- Time perspective
- Prospective
- Target follow-up
- 10 Years
- Number of arms
- 2
| Arm | Type | Receives |
|---|---|---|
| Myotonic Dystrophy Type 1 (DM1) | – | Other: Patient RegistryThe group included Individuals with a confirmed genetic diagnosis of Myotonic Dystrophy Type 1 (DM1) |
| Control | – | Other: Patient RegistryThe group included control subjects as individuals without a genetic diagnosis of Myotonic Dystrophy Type 1 (DM1). |
Who may qualify
- Sex
- All
- Healthy volunteers
- Accepted
- Age groups
- Child, Adult, Older adult
- 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.
Key inclusion criteria (1 listed)
- Confirmed diagnosis of Myotonic Dystrophy Type 1 (DM1) through genetic testing.
Key exclusion criteria (1 listed)
- There are no exclusion criteria for the registry
Eligibility is decided by the study team after screening; this overview does not establish that a patient qualifies. Full inclusion and exclusion criteria.
Interventions
| Intervention | Type | Arms |
|---|---|---|
| Patient RegistryPatient Registry | Other | Control, Myotonic Dystrophy Type 1 (DM1) |
Primary outcome
Genomic Caracterization
Time frame: 1 year, year 1
Long-read genomic sequencing analyses encompassing CTG expansion characterization and whole-genome genetic and epigenetic profiling.
22 secondary outcomes
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
GI symptomatology
Time frame: 1 year, year 1
MBS (Myotonia Behaviour Scale)
Time frame: 1 year, year 1
Modified Rankin Scale (mRS)
Time frame: 1 year, year 1
Patient-Reported Outcome: Quality of life
Time frame: 1 year, year 1
Patient-Reported Outcome: Fatigue
Time frame: 1 year, year 1
Patient-Reported Outcome: Dietary Habits
Time frame: 1 year, year 1
Patient-Reported Outcome: Sleepiness
Time frame: 1 year, year 1
Patient-Reported Outcome: Apathy
Time frame: 1 year, year 1
Patient-Reported Outcome: Physical Activity
Time frame: 1 year, year 1
Patient-Reported Outcome: Mental Health
Time frame: 1 year, year 1
Results and safety
This study is still under way. Results are not available in the source record yet.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 3 Nov 2026.
- DM1-Hub webpageLink provided by the sponsor.
- Individual participant dataSharing planned: Undecided
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Referral and contact
AzTrials does not enrol participants or take referrals. Contact the study team or a site listed below; they decide who can take part.
Alvaro S Larran Mottino, Ph.D. contact
Gisela Nogales Gadea, Ph.D. study director
Germans Trias i Pujol Research Institute
Arturo Lopez Castel, Ph.D. principal investigator
INCLIVA Instituto de Investigación Sanitaria
Virginia Arechavala-Gomeza, Ph.D. principal investigator
IIS Biobizkaia
8 sites in 1 country: see every site and its status.
Questions about this trial
What is this clinical trial studying?
An observational study of Myotonic Dystrophy 1 and DM1, run by Fundació Institut Germans Trias i Pujol at 8 sites in Spain.
The full registered description is in the About this study section and the official record.
Who may be eligible to take part?
The sponsor lists 1 inclusion and 1 exclusion criteria. Eligibility is decided by the study team after screening, so read the full criteria and contact a listed site.
Is this clinical trial currently recruiting?
The record says: looking for participants now, as of the sponsor's last update on 3 Nov 2026. Status can change between updates, so confirm with the study contact before making plans.
Where is the study taking place?
The record lists 8 sites in Spain. Whether a site is taking part right now should be confirmed with that site. See every site.
What are the possible benefits and risks?
They depend on the study and the treatment, and no study can promise a benefit. The study team explains the known risks during informed consent, before anyone joins; the record itself does not list them.
Are results available for this study?
This study is still under way. Results are not available in the source record yet.
How can a doctor refer a patient or contact the research team?
Contact Gisela Nogales Gadea, Ph.D. ((+34) 93 554 3050, gnogales@igtp.cat), or a site near the patient. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
Genomic Caracterization (time frame: 1 year, year 1). It is what the study was designed to measure, not a finding.
Where can I read the original study information?
Does a listing mean the treatment is approved or proven to work?
No. A listing means the study is registered. It does not show that the treatment is safe, works, or is approved by a regulator.
How often is this information updated?
AzTrials copies changed records from ClinicalTrials.gov every night and reloads the whole registry every week. The sponsor last updated this record on 3 Nov 2026.