An Ambispective Natural History Study in Myotonic Dystrophy Patients Linking Retrospective Data C… (NCT07732439) | Clinical Trial Compass
Not Yet RecruitingNot Applicable
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
France100 participantsStarted 2026-08-03
Plain-language summary
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.
Who can participate
Age range
18 Years
Sex
ALL
See this in plain English?
AI-rewrites the medical criteria so a patient or caregiver can understand them. Always confirm with the trial site.
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 …
Questions worth asking your doctor
Bring these to your next appointment. They're a starting point for a shared conversation — not a sign you qualify or a recommendation to enrol.
1Based on my diagnosis and history, is this trial worth exploring for me — or is there a standard treatment we should try first?
2What does this trial's phase tell us about how much is already known about its safety and benefit?
3What would taking part actually involve for me — visits, tests, time, and travel?
4What are the known and possible risks or side effects I should weigh, and how would they be monitored?
5If this trial isn't the right fit, what other options or trials would you suggest I look into?
Generated to help you prepare — always confirm anything about your own eligibility and care with the study team and your doctor.
Questions for the trial coordinator
The trial coordinator is the person who runs the study day to day. These cover the practical side — logistics, costs, and what taking part would actually mean for your life. The study team confirms whether you meet the criteria; these are questions to ask, not a sign you qualify.
1What does taking part actually involve week to week — how many visits, where, and how long does each one take?
2What costs are covered by the study, and what might I have to pay for myself, including travel, parking, or time off work?
3What happens during screening, and what happens if the study team confirms I don't meet the criteria after those tests?
4Who pays for the scans, blood work, and other tests the trial requires — the study, my insurance, or me?
5How will being in the trial affect my regular care, and will my own doctor stay informed and involved?
6Can I leave the trial at any point if I change my mind, and what would happen to my care if I do?
A starting point for the conversation — always confirm anything about your own eligibility, costs, and care with the study team and your doctor.
What they're measuring
1
Change in stiffness severity assessed by Visual Analog Scale (VAS)
Timeframe: Baseline to Month 24
2
Change in myotonia severity assessed by the Myotonia Behavior Scale (MBS)
Timeframe: Baseline to Month 24
3
Change in disease-related activity and participation assessed by DM1-Activ
Timeframe: Baseline to Month 24
4
Change in health-related quality of life assessed by the Individualized Neuromuscular Quality of Life Questionnaire (INQoL)
Timeframe: Baseline to Month 24
5
Change in walking performance assessed by the 10-Meter Walk Test (10mWT)
Timeframe: Baseline to Month 24
6
Change in mobility and functional performance assessed by the Timed Up and Go Test (TUG)
Timeframe: Baseline to Month 24
Trial details
NCT IDNCT07732439
SponsorLupin Ltd.
Sponsor typeINDUSTRY
Study typeOBSERVATIONAL
Primary completion2029-09
Contact for this trial
Director of Clinical Operations, Lupin Research Inc.