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
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.
Eligibility
Sex
ALL
Min age
18 Years
Max age
—
Healthy volunteers
No
Inclusion Criteria:
* Enrolled in DM-scope registry genetically diagnosed with DM1 or DM2.
* Affiliation or beneficiary of a social security system or of such a regime.
* Ability to comprehend and willingness to sign an informed consent (ICF).
* Male or non-pregnant female ≥18 years of age at screening.
* Body Mass Index (BMI) of 18.5 kg/m2 to 30 kg/m2, and weight ≥45 kg.
* Medical history data covering up to 18 months prior to enrollment.
* Clinical sign of myotonia
* DM1 patients only - Muscular impairment rating scale (MIRS) score of 2, 3 or 4.
* Be able to walk independently 10 meters (cane, walker, orthoses allowed).
Exclusion Criteria:
* No informed consent.
* Pregnant or lactating women.
* Subjects benefiting from laws aimed at protecting vulnerable adults: subjects being deprived of liberty by judicial or administrative decision, subjects under guardianship /curatorship.
* Any medical condition or serious medical illness which in the opinion of the Investigator, precludes the participant's participation in the study or the participant is unlikely to comply with the protocol-defined procedures and therefore is unlikely to complete the study.
* Medical conditions that could affect hand functioning including (but not limited to) rheumatoid arthritis, Dupuytren's contracture, hand deformity, severe arthritis or any other medical condition (other than DM1/DM2) that would significantly impact ambulation.
* Patients with no documented record of myotonia assessment in the clinical records of the DM-scope database or myotonia absence at last visit prior to study enrolment.
* Not able to perform study specific performance tests and evaluations e.g. hand grip dynamometry, 10mWT, etc. (in the opinion of the investigator).
* Treatment with mexiletine within 18 months prior to baseline (Day 1).
Primary outcome measure(s)
Change in stiffness severity assessed by Visual Analog Scale (VAS) — Baseline to Month 24 Absolute change in VAS stiffness score (0-100mm) between Baseline and Month 12
Change in myotonia severity assessed by the Myotonia Behavior Scale (MBS) — Baseline to Month 24 Absolute change in MBS score (1-6) between Baseline and Month 24.
Change in disease-related activity and participation assessed by DM1-Activ — Baseline to Month 24 Absolute change in DM1-Activ score (0-100) between Baseline and Month 24.
Change in health-related quality of life assessed by the Individualized Neuromuscular Quality of Life Questionnaire (INQoL) — Baseline to Month 24 Absolute change in INQoL: symptom subscores, life-domain subscores, overall total score, and treatment impact score (0-4 Likert) between Baseline and Month 24.
Change in walking performance assessed by the 10-Meter Walk Test (10mWT) — Baseline to Month 24 Absolute change in 10mWT (sec) performance between Baseline and Month 24.
Change in mobility and functional performance assessed by the Timed Up and Go Test (TUG) — Baseline to Month 24 Absolute change in TUG performance (sec) between Baseline and Month 24.
This page summarises publicly available registry data for informational purposes — not medical advice. Eligibility is determined by each study team; patients should discuss participation with their clinician.
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