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 (Track-DM)

July 23, 2026 updated by: Lupin Ltd.

An Ambispective 24-Month Longitudinal Natural History Study in Myotonic Dystrophy Patients Using DM-Scope Registry (TRACK-DM Study)

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.

Study Overview

Status

Status

Indicates the current recruitment status or the expanded access status.
Not yet recruiting

Conditions

Conditions

The disease, disorder, syndrome, illness, or injury that is being studied. On ClinicalTrials.gov, conditions may also include other health-related issues, such as lifespan, quality of life, and health risks.

Detailed Description

The rationale of the study is to gather longitudinal data on patients with DM1 and DM2 in order to better understand disease progression and evolution of myotonia and other symptoms and their associated complications/risks, particularly in relation to cardiac and other systemic manifestations. The primary objective is to investigate the evolution of myotonia presence, perception and its impact on the burden of disease over time in patients with Myotonic dystrophy type 1 (DM1) and type 2 (DM2). The secondary objective is to evaluate the progression of other DM-related multisystemic symptom manifestation such as cardiac, pulmonary, gastrointestinal (GI), hepatic, and renal impairments/disorders, muscle weakness, stumbling and falls in DM patients over 24-months. Additionally, the study will assess the use of pharmacological and non-pharmacological treatments for myotonia during the data collection period.

All of the patients will be recruited through the DM-Scope Registry. The registry database will be the source of the retrospective data to be used in the study. The study will begin with a detailed retrospective medical history assessment (up to -18 months to baseline) based on the annual routine DM-scope visits in the database. This will provide a comprehensive view of the patients' health status before the study. The 24-month prospective assessment period visits will occur at baseline, 12 months and 24 months. This approach allows for detailed tracking of disease progression and associated complications/risks over time.

The exploratory sub-study aims to broaden the understanding of DM1 pathophysiology by incorporating biophysical, functional, and behavioral measurements beyond traditional motor function and muscle strength. It also aims to evaluate the reliability of several innovative assessments, including advanced tools to deliver a multidimensional view of disease progression.

Study Type

Study Type

Describes the nature of a clinical study. Study types include interventional studies (also called clinical trials), observational studies (including patient registries), and expanded access.
Observational

Enrollment (Estimated)

Enrollment

The number of participants in a clinical study. The "anticipated" enrollment is the target number of participants that the researchers need for the study.
100

Contacts and Locations

This section provides the contact details for those conducting the study, and information on where this study is being conducted.

Study Contact

Study Contact

The name and contact information for the person who can answer enrollment questions for a clinical study. Each location where the study is being conducted may also have a specific contact, who may be better able to answer those questions.
  • Name: Director of Clinical Operations, Lupin Research Inc.
  • Phone Number: 14433013146
  • Email: jackieshaw@lupin.com

Study Contact Backup

Study Locations

  • France
      • Angers, France, 75651
        • Centre hospitalier universitaire d'Angers
        • Contact:
        • Principal Investigator:
          • Marco SPINAZZI, MD, PhD
      • Lille, France, 59037
        • CHU de Lille - Hôpital
        • Contact:
        • Principal Investigator:
          • Celine TARD, MD, PhD
      • Marseille, France, 13005
        • CHU LA TIMONE - Service des Maladies
        • Contact:
        • Principal Investigator:
          • Shahram ATTARIAN, MD, PhD
      • Nantes, France, 44093
        • Centre de référence des maladies neuromusculaires
        • Principal Investigator:
          • Yann PEREON, MD, PhD
        • Contact:
      • Paris, France, 75013
        • Hôpital Pitié Salpêtrière
        • Principal Investigator:
          • Guillaume BASSEZ, MD
        • Contact:
      • Toulouse, France, 40031
        • CHU de Toulouse - Hôpital
        • Principal Investigator:
          • Pascal CINTAS, MD
        • Contact:

Participation Criteria

Researchers look for people who fit a certain description, called eligibility criteria. Some examples of these criteria are a person's general health condition or prior treatments.

Eligibility Criteria

Eligibility Criteria

The key requirements that people who want to participate in a clinical study must meet or the characteristics they must have. Eligibility criteria consist of both inclusion criteria (which are required for a person to participate in the study) and exclusion criteria (which prevent a person from participating). Types of eligibility criteria include whether a study accepts healthy volunteers, has age or age group requirements, or is limited by sex.

Ages Eligible for Study

  • Adult
  • Older Adult

Accepts Healthy Volunteers

No

Sampling Method

Non-Probability Sample

Study Population

All patients will be recruited from DM-Scope Registry

Description

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

This section provides details of the study plan, including how the study is designed and what the study is measuring.

How is the study designed?

Design Details

Cohorts and Interventions

Group / Cohort

Group / Cohort

A group or subgroup of participants in an observational study that is assessed for biomedical or health outcomes.
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.

What is the study measuring?

Primary Outcome Measures

Primary Outcome Measures

In a clinical study's protocol, the planned outcome measure that is the most important for evaluating the effect of an intervention/treatment. Most clinical studies have one primary outcome measure, but some have more than one.
Outcome Measure
Measure Description
Time Frame
Change in stiffness severity assessed by Visual Analog Scale (VAS)
Time Frame: Baseline to Month 24
Absolute change in VAS stiffness score (0-100mm) between Baseline and Month 12
Baseline to Month 24
Change in myotonia severity assessed by the Myotonia Behavior Scale (MBS)
Time Frame: Baseline to Month 24
Absolute change in MBS score (1-6) between Baseline and Month 24.
Baseline to Month 24
Change in disease-related activity and participation assessed by DM1-Activ
Time Frame: Baseline to Month 24
Absolute change in DM1-Activ score (0-100) between Baseline and Month 24.
Baseline to Month 24
Change in health-related quality of life assessed by the Individualized Neuromuscular Quality of Life Questionnaire (INQoL)
Time Frame: 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.
Baseline to Month 24
Change in walking performance assessed by the 10-Meter Walk Test (10mWT)
Time Frame: Baseline to Month 24
Absolute change in 10mWT (sec) performance between Baseline and Month 24.
Baseline to Month 24
Change in mobility and functional performance assessed by the Timed Up and Go Test (TUG)
Time Frame: Baseline to Month 24
Absolute change in TUG performance (sec) between Baseline and Month 24.
Baseline to Month 24

Secondary Outcome Measures

Secondary Outcome Measures

In a clinical study's protocol, a planned outcome measure that is not as important as the primary outcome measure for evaluating the effect of an intervention but is still of interest. Most clinical studies have more than one secondary outcome measure.
Outcome Measure
Measure Description
Time Frame
Change in cardiac function
Time Frame: Baseline and all scheduled study timepoints, including retrospective assessments up to 18 months before enrollment.
Assessment of cardiac manifestations of DM1 using ECG and echocardiography, including LVEF, heart rate, PR interval, QRS interval, QT interval (QTcB and QTcF), and classification of cardiac function status (Normal, Abnormal-Not Clinically Significant, Abnormal-Clinically Significant).
Baseline and all scheduled study timepoints, including retrospective assessments up to 18 months before enrollment.
Progression of opthalmologic manifestations
Time Frame: Scheduled study timepoints, including retrospective assessments up to 18 months before enrollment.
Presence or absence of cataracts at each study timepoint
Scheduled study timepoints, including retrospective assessments up to 18 months before enrollment.
Change in respiratory function
Time Frame: Baseline and all scheduled study timepoints, including retrospective data up to 18 months.
Absolute change in respiratory function as measured by spirometry, including forced vital capacity (FVC), forced expiratory volume in one second (FEV1), and FEV1/FVC ratio.
Baseline and all scheduled study timepoints, including retrospective data up to 18 months.
Change in Physical Examination Findings
Time Frame: Baseline and all scheduled study timepoints.
Assessment and absolute changes in physical examination parameters, including BMI (weight (kg)/Height (m2)) and other clinically relevant findings (CS/NCS) at each study timepoint.
Baseline and all scheduled study timepoints.
Safety and Tolerability
Time Frame: Throughout study participation.
Evaluation of adverse events, clinical laboratory parameters (hematology and biochemistry) and concomitant medication use.
Throughout study participation.
Change in Gastrointestinal (GI) manifestations
Time Frame: Baseline and all scheduled study timepoints, including retrospective assessments up to 18 months before enrollment.
Assessment of gastrointestinal and related symptoms using a specific questionnaire used in DM-scope, including age of onset, coughing while eating or drinking (response options: never or <2 times/month, >2 times/month, >1 time/week, not investigated), feeling of food blockage, digestive difficulties (Yes/No, if yes, specify: constipation, diarrhea, alternating diarrhea-constipation), fecal incontinence, urinary incontinence, gastroesophageal reflux
Baseline and all scheduled study timepoints, including retrospective assessments up to 18 months before enrollment.
Change in muscle-related manifestations
Time Frame: Baseline and all scheduled study timepoints.
Assessment of disease-related muscular symptoms including dysphagia, muscle pain assessed by VAS (0-100mm), hand-opening time after contraction (sec), and swallowing function assessed by the Timed Water Swallowing Test (sec).
Baseline and all scheduled study timepoints.
Change in mobility and functional performance
Time Frame: Baseline and all scheduled study timepoints
Assessment of mobility and physical function, including number of accidental falls, 10-Meter Walk Test (10mWT), and Timed Up and Go Test (TUG).
Baseline and all scheduled study timepoints
Change in Quality of Life
Time Frame: Baseline and all scheduled study timepoints.
Assessment of health-related quality of life using the Individualized Neuromuscular Quality of Life Questionnaire (INQoL), including symptom subscales, life-domain subscales, total score, and treatment impact score.
Baseline and all scheduled study timepoints.
Clinical Global Impression of disease severity and change
Time Frame: Baseline and all scheduled study timepoints
Assessment of disease severity using the Clinical Global Impression (CGI) scale (7-point scale from normal, not at all ill, to amongst the most extremely ill) at each study timepoint.
Baseline and all scheduled study timepoints

Other Outcome Measures

Other Outcome Measures

For clinical trials, a planned measurement described in the protocol that is used to determine the effect of an intervention/treatment on participants. For observational studies, a measurement or observation that is used to describe patterns of diseases or traits, or associations with exposures, risk factors, or treatment. Types of outcome measures include primary outcome measure and secondary outcome measure.
Outcome Measure
Measure Description
Time Frame
Exploratory Sub-study - Change in Motor Function Measures (MFM-32)
Time Frame: Baseline and all scheduled study timepoints.
Assessment of muscle weakness and functional limitations over time using MFM-32 Scale (score 0-96)
Baseline and all scheduled study timepoints.
Exploratory Sub-Study - Video Hand Opening Test (vHOT)
Time Frame: Baseline and all scheduled study timepoints.
Assessment of delayed hand opening using the standardized Video Hand Opening Test. Myotonia is quantified as the time required for hand opening following voluntary contraction. Unit of Measurement: Seconds
Baseline and all scheduled study timepoints.
Exploratory Sub Study - QMA-Based Myotonia Assessment
Time Frame: Baseline and all scheduled study timepoints
Detailed characterization of grip myotonia using Quantitative Muscle Assessment (QMA). Participants perform three series of six maximal grip contractions every 15 seconds, with a 10-minute rest between series. Myotonia is quantified as the average relaxation time from the first trial of each series. Unit of Measurement: seconds
Baseline and all scheduled study timepoints
Exploratory Sub-Study - Myotone Device Myotonia Assessment
Time Frame: Baseline and all scheduled study timepoints
Assessment of delayed muscle relaxation using the MyoTone handheld device. The device applies a brief mechanical impulse and records muscle oscillation response to quantify stiffness and relaxation properties. Unit of measure N/m.
Baseline and all scheduled study timepoints
Exploratory Substudy- Quadriceps Myotonia
Time Frame: Baseline and all scheduled timepoints.
Assessment of Myotonia using MyoTone test during knee extension to possibly detect myotonia in other muscle territories. Unit of measurement: seconds.
Baseline and all scheduled timepoints.
Exploratory Sub-study: Muscle Imaging
Time Frame: All scheduled timepoints
Assessment of muscle fatty degenerative changes, muscle volume changes and active muscle damage by MRI. Unit of Measure: imaging derived values
All scheduled timepoints
Exploratory Sub Study - Shear Wave Elastography (SWE) of vastus lateralis and forearm flexor compartment
Time Frame: Baseline and all scheduled timepoints
Assess change in the mechanisms of myotonia at rest and during grip contractions using SWE ultrasound imaging technique. Unit of Measurement: kilopascals (kPa)
Baseline and all scheduled timepoints
Exploratory Sub Study - Bioelectrical Impedance analysis (BIA) of the Thigh.
Time Frame: Baseline and all scheduled study timepoints
Change in thigh composition measured by BIA. Unit of measurement: ohms or impedance index
Baseline and all scheduled study timepoints
Exploratory Sub Study - 30 second sit to stand test
Time Frame: Baseline and all scheduled study timepoints
Change in number of sit to stand repetitions completed in 30 seconds.
Baseline and all scheduled study timepoints
Ankle Dorsiflexion Strength
Time Frame: Baseline and all scheduled study timepoints
Change in ankle dorsiflexion force measured by MyoAnkle dynamometry
Baseline and all scheduled study timepoints
Swallowing Sound and Vibration Analysis
Time Frame: Baseline and all scheduled study timepoints
Change in swallowing acoustics and vibration patterns. Unit of Measure: device acoustic/vibration units
Baseline and all scheduled study timepoints
Exploratory Sub Study - Home monitoring of physical activity using a wearable actimetry device
Time Frame: Baseline and all scheduled study timepoints
Assessment of changes in daily physical activity captured by wearable device.
Baseline and all scheduled study timepoints

Collaborators and Investigators

This is where you will find people and organizations involved with this study.

Sponsor

Sponsor

The organization or person who initiates the study and who has authority and control over the study.
Lupin Ltd.

Collaborators

Collaborators

An organization other than the sponsor that provides support for a clinical study. This support may include activities related to funding, design, implementation, data analysis, or reporting.
Lupin Atlantis Holdings S.A.

Investigators

Investigators

A researcher involved in a clinical study. Related terms include site principal investigator, site sub-investigator, study chair, study director, and study principal investigator.
  • Study Chair: Alla Zozulya-Weidenfeller, PhD, Lupin Atlantis Holdings S.A.

Study record dates

These dates track the progress of study record and summary results submissions to ClinicalTrials.gov. Study records and reported results are reviewed by the National Library of Medicine (NLM) to make sure they meet specific quality control standards before being posted on the public website.

Study Major Dates

Study Start (Estimated)

Study Start

The actual date on which the first participant was enrolled in a clinical study. The "anticipated" study start date is the date that the researchers think will be the study start date.
August 3, 2026

Primary Completion (Estimated)

Primary Completion

The date on which the last participant in a clinical study was examined or received an intervention to collect final data for the primary outcome measure. Whether the clinical study ended according to the protocol or was terminated does not affect this date. For clinical studies with more than one primary outcome measure with different completion dates, this term refers to the date on which data collection is completed for all the primary outcome measures. The "anticipated" primary completion date is the date that the researchers think will be the primary completion date for the study.
September 1, 2029

Study Completion (Estimated)

Study Completion

The date on which the last participant in a clinical study was examined or received an intervention/treatment to collect final data for the primary outcome measures, secondary outcome measures, and adverse events (that is, the last participant's last visit). The "anticipated" study completion date is the date that the researchers think will be the study completion date.
September 1, 2029

Study Registration Dates

First Submitted

First Submitted

The date on which the study sponsor or investigator first submitted a study record to ClinicalTrials.gov. There is typically a delay of a few days between the first submitted date and the record's availability on ClinicalTrials.gov (the first posted date).
June 17, 2026

First Submitted That Met QC Criteria

First Submitted That Met QC Criteria

The date on which the study sponsor or investigator first submits a study record that is consistent with National Library of Medicine (NLM) quality control (QC) review criteria. The sponsor or investigator may need to revise and submit a study record one or more times before NLM's QC review criteria are met. It is the responsibility of the sponsor or investigator to ensure that the study record is consistent with the NLM QC review criteria.
July 23, 2026

First Posted (Actual)

First Posted

The date on which the study record was first available on ClinicalTrials.gov after National Library of Medicine (NLM) quality control (QC) review has concluded. There is typically a delay of a few days between the date the study sponsor or investigator submitted the study record and the first posted date.
July 28, 2026

Study Record Updates

Last Update Posted (Actual)

Last Update Posted

The most recent date on which changes to a study record were made available on ClinicalTrials.gov. There may be a delay between when the changes were submitted to ClinicalTrials.gov by the study's sponsor or investigator (the last update submitted date) and the last update posted date.
July 28, 2026

Last Update Submitted That Met QC Criteria

Last Update Submitted That Met QC Criteria

The most recent date on which the study sponsor or investigator submitted changes to a study record that are consistent with National Library of Medicine (NLM) quality control (QC) review criteria. It is the responsibility of the sponsor or investigator to ensure that the study record is consistent with the NLM QC review criteria.
July 23, 2026

Last Verified

Last Verified

The most recent date on which the study sponsor or investigator confirmed the information about a clinical study on ClinicalTrials.gov as accurate and current. If a study with a recruitment status of recruiting; not yet recruiting; or active, not recruiting has not been confirmed within the past 2 years, the study's recruitment status is shown as unknown.
July 1, 2026

More Information

Terms related to this study

Keywords

Additional Relevant MeSH Terms

Other Study ID Numbers

Other Study ID Numbers

Identifiers or ID numbers other than the NCT number that are assigned to a clinical study by the study's sponsor, funders, or others. These numbers may include unique identifiers from other trial registries and National Institutes of Health grant numbers.
  • NHS-DM-401
  • ID-RCB Number: 2025-A02624-45 (Other Identifier: ANSM)

Plan for Individual participant data (IPD)

Plan to Share Individual Participant Data (IPD)?

UNDECIDED

Drug and device information, study documents

Studies a U.S. FDA-regulated drug product

No

Studies a U.S. FDA-regulated device product

No

This information was retrieved directly from the website clinicaltrials.gov without any changes. If you have any requests to change, remove or update your study details, please contact register@clinicaltrials.gov. As soon as a change is implemented on clinicaltrials.gov, this will be updated automatically on our website as well.

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