An Ambispective Natural History Study in Myotonic Dystrophy Patients Linking Retrospective Data Captured From the DM-Scope Registry With a... | NCT07732439

NCT07732439

Overview

NCT ID: NCT07732439
Lead Sponsor: Lupin Ltd.INDUSTRY
Official Title: An Ambispective 24-Month Longitudinal Natural History Study in Myotonic Dystrophy Patients Using DM-Scope Registry (TRACK-DM Study)
Brief 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.
Conditions

Status and Timeline

Status: Not yet recruiting
Last Update Posted: Jul 28, 2026Actual
Start Date: Aug 3, 2026Estimated
Primary Completion Date: Sep 2029Estimated
Completion Date

Participation Criteria

Ages Eligible for Study: Adult (18-64)Older Adult (65+)
Sexes Eligible for Study: All
Accepts Healthy Volunteers?: No
Eligibility Criteria: 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).

Study Plan

Study Type: Observational
Phase: No data available
Enrollment: 100Estimated
Primary Purpose: No data available
Allocation: No data available
Interventional Model: No data available
Masking: No data available

Contacts and Locations

Central Contacts: Director of Clinical Operations, Lupin Research Inc.Contact
jackieshaw@lupin.com

Similar Studies

Participant Group/Arms

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.