Clinical Research Directory

Music Intervention for Brain-Heart Disease in Myotonic Dystrophy Type 1 (DM1)

The goal of this interventional study is to demonstrate the feasibility and tolerability of music and movement intervention for children with congenital DM1, while providing indications of its effectiveness in improving brain and heart symptoms of DM1. Additionally, information from the collection of biological samples and wearable devices (accelerometer, EEG headband and ECG chest strap) will be used to identify brain-heart biomarkers and outcome measures for use in future research and trials. Researchers will compare the results of physical and cognitive assessments for each participant to assessments from baseline after 10 weeks of weekly music sessions. Qualitative measures (questionnaires and focus groups) will inform the feasibility of this intervention for this population. The main questions this study aims to answer are: * Are weekly music education sessions feasible for children with DM1? * Are weekly music education sessions tolerable for children with DM1? Participants will: * Attend 45-minute-long music sessions once weekly for 10 weeks. * Attend two clinic visits for cognitive and physical assessments. * Provide blood, saliva, stool and urine samples. * Use wearable devices both at-home and during music sessions. * Parents/caregivers of participants will complete questionnaires and participate in three focus groups. Progression from feasibility study to a full-scale clinical trial will be informed by four progression criteria: 1. The feasibility of attendance, as assessed by attendance rate to 10 music sessions (≥ 60%) 2. Feasibility of attendance, as rated by parents/caregivers of participants (≥60% rate "extremely" or "very" practical to attend) 3. Attrition rate of the study, as determined by percentage of participants who complete the study (≥ 60%) 4. Overall satisfaction, as rated by parents/caregivers of participants (≥60% rate "very satisfied" or "satisfied")

The Spanish National Registry for Myotonic Dystrophy Type 1

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.

Myotonic Dystrophy Family Registry

The Myotonic Dystrophy Family Registry (MDFR) is an online, patient-entered database that collects information on myotonic dystrophy (DM) to aid researchers in developing new, effective treatments and help identify participants for research studies and clinical trials.