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.
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
3,000
Patient Registry
Hospitals within the DM1 network
Multiple Locations, Andalusia, Spain
RECRUITINGHospitals within the DM1 network
Multiple Locations, Basque Country, Spain
RECRUITINGHospitals within the DM1 network
Multiple Locations, Canary Islands, Spain
RECRUITINGHospitals within the DM1 network
Multiple Locations, Cantabria, Spain
RECRUITINGHospitals within the DM1 network
Multiple Locations, Castilla-La Macha, Spain
RECRUITINGHospitals within the DM1 network
Multiple Locations, Catalonia, Spain
RECRUITINGHospitals within the DM1 network
Multiple Locations, Madrid, Spain
RECRUITINGHospitals within the DM1 network
Multiple Locations, Valencia, Spain
RECRUITINGGenomic Caracterization
Long-read genomic sequencing analyses encompassing CTG expansion characterization and whole-genome genetic and epigenetic profiling.
Time frame: 1 year, year 1
Proteomic Characterization
Biomarker evaluation
Time frame: 1 year, year 1
WAIS IV neuropsychological tests
IQ, memory, attention, language
Time frame: 2 years, year 1
vHOT
Video Hand Opening Time, clinical measure for Myotonic Dystrophy (DM1) tracking hand reopening speed
Time frame: 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.
Time frame: 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.
Time frame: 1 year, year 1
6MWT
Six-Minute Walk Test
Time frame: 1 year, year 1
10MWRT
10-meter Walk/Run Test
Time frame: 1 year, year 1
30CST
30-Second Chair Stand Test
Time frame: 1 year, year 1
FVC
Forced Vital Capacity (L)
Time frame: 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.
Time frame: 1 year, year 1
BMI
Body Mass Index
Time frame: 1 year, year 1
OBGYN events
Collection of gynecological clinical history and relevant reproductive health events for participants who opt to provide this information.
Time frame: 1 year, year 1
GI symptomatology
Collection of participant-reported gastrointestinal symptoms and related clinical information.
Time frame: 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 1. Mild stiffness present but easily ignored 2. Stiffness present and occasionally noticeable but does not interfere with daily activities 3. Stiffness requiring increased concentration to perform certain tasks or activities 4. Stiffness interfering with all tasks and daily activities 5. 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.
Time frame: 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 1. No significant disability; able to carry out all usual activities despite symptoms 2. Slight disability; unable to perform all previous activities but able to manage own affairs without assistance 3. Moderate disability; requiring some help but able to walk without assistance 4. Moderately severe disability; unable to walk without assistance and unable to attend to bodily needs without help 5. Severe disability; bedridden, incontinent, and requiring constant nursing care and attention 6. Death
Time frame: 1 year, year 1
Patient-Reported Outcome: Quality of life
INQoL (Individualized Neuromuscular Quality of Life Questionnaire)
Time frame: 1 year, year 1
Patient-Reported Outcome: Fatigue
FSS (Fatigue Severity Scale )
Time frame: 1 year, year 1
Patient-Reported Outcome: Dietary Habits
MEDAS-14 (Mediterranean Diet Adherence Screener)
Time frame: 1 year, year 1
Patient-Reported Outcome: Sleepiness
DSS (Daytime Sleepiness Scale)
Time frame: 1 year, year 1
Patient-Reported Outcome: Apathy
AES (Apathy Evaluation Scale)
Time frame: 1 year, year 1
Patient-Reported Outcome: Physical Activity
IPAQ (International Physical Activity Questionnaire)
Time frame: 1 year, year 1
Patient-Reported Outcome: Mental Health
MHI-5 (Mental Health Inventory)
Time frame: 1 year, year 1
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