An Ambispective Natural History Study in Myotonic Dystrophy Patients Linking Retrospective Data Captured From the DM-Scope Registry With a Prospective 24-month Follow-up Period

MI-összefoglaló

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The trial is looking for adults with myotonic dystrophy type 1 (DM1) or type 2 (DM2) who are already in the DM-Scope registry in France. It follows them for 24 months to study muscle stiffness (myotonia) and its effects.

Életkor

18 years and older

Nem

Men and women who are not pregnant

A betegség stádiuma

DM1 or DM2 confirmed by a genetic test, with clinical signs of myotonia (muscles slow to relax). People with DM1 need a Muscular impairment rating scale (MIRS) score of 2, 3 or 4. People must be able to walk 10 meters on their own; a cane, walker or orthoses are allowed. Body Mass Index (BMI) must be 18.5 kg/m2 to 30 kg/m2, and weight ≥45 kg (99 lb).

Korábbi kezelés

People cannot join if they took mexiletine within 18 months before the start of the study. Medical history covering up to 18 months before enrollment must be available.

Biomarker vagy leletérték

Genetic diagnosis of DM1 or DM2.

A részvétel fő kizáró okai

• Pregnant or breastfeeding women
• Treatment with mexiletine within 18 months before Day 1
• Other conditions that affect the hands or walking, such as rheumatoid arthritis, Dupuytren's contracture or severe arthritis
• No recorded myotonia check in the registry, or no myotonia at the last visit
• Under guardianship or curatorship, or deprived of liberty by a court or official decision

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Mit akar kideríteni a vizsgálat

This natural history observational study is being conducted to follow patients with DM1 or DM2 over a 2 year period to study the presence of myotonia, how it's perceived and its impact on patients quality of life. This study will be conducted at 6 study sites located in France.100 Patients will be recruited from the DM Scope Registry only. The study involves two parts. Part 1 will look back up to 18 months of past medical history that is already available from the DM Scope Registry. Part 2 will follow the same patients for 24 months, with study visits at Day 1 (Baseline), 12 months and 24 months. The goal is to better understand how myotonia symptoms and complications such as heart and other systemic problems develop and change over time. A smaller, sub-study will take place at one site, using new exploratory methods in about 40 patients with DM1 who are also part of the Track DM Study.

A vizsgálat 3 csoportja

• Exploratory Sub-study

  Approximately 40 patients with DM1 who are enrolled in the Track DM core study will also participate in the substudy. These patients will undergo all visits and assessments as outlined in the core study Schedule of Assessments. In addition, patients participating in the substudy will also complete exploratory assessments at Baseline, Day 14, Month 6, Month 12 and Month 24 visits. All additional exploratory assessments will be conducted at a single site and will include a set of innovative measures designed to provide an integrative, multi-dimensional view of disease progression. These assessments will complement conventional clinical evaluations by incorporating emerging and innovative biomarkers.

• DM1 Patients

  90 Patients with Myotonic Dystrophy Type 1 (DM1) will be enrolled in the study and data for this group will be analyzed separately

• DM2 Patients

  10 Patients with Myotonic Dystrophy Type 2 (DM2) will be enrolled in the study and data for this group will be analyzed separately.