Myotonic Dystrophy 1Track-DMNCT07732439
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
An observational study of Myotonic Dystrophy 1 and Myotonic Dystrophy 2, run by Lupin Ltd. at 6 sites in France.
Trial 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. Read more about this study
- Who is it for?
- Ages 18 years and older
- Conditions the study is for
- Myotonic Dystrophy 1, Myotonic Dystrophy 2
- How many people
- 100 participants
- Where
- 6 sitesFrance
- Study dates
- 3 Aug 2026to Sep 2029
- How long will I take part?
- 24 Months
- Phase
- Observational
- Are there results?
- Not yet: the study is under way
Key requirements
Who can take part, as listed by the sponsor. Only the study team can confirm whether you are eligible, so take this list to your doctor.
- Ages 18 years and older
- All sexes
- No healthy volunteers
- Adult, Older adult
Study population: All patients will be recruited from DM-Scope Registry
Who may be able to join
- 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.
Show all 9Show fewer
- 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).
Who cannot join
- 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).
Trial locations and contacts
6 sites in 1 country. Contact the study team or a site near you to ask about taking part.
Head, Global Medical Affairs & Clinical Development contact
6 sites in 1 country
France6 sites
Centre hospitalier Universitaire d'Angers
Angers, 75651
Principal Investigator, Marco.Spinazzi@chu-angers.fr
Marco SPINAZZI, MD, PhD
CHU de Lille - Hôpital
Lille, 59037
Principal Investigator, CELINE.TARD@chu-lille.fr
Celine TARD, MD, PhD
CHU LA TIMONE - Service des Maladies
Marseille, 13005
Principal Investigator, Shahram.ATTARIAN@ap-hm.fr
Shahram ATTARIAN, MD, PhD
Centre de référence des maladies neuromusculaires
Nantes, 44093
Principal Investigator, Yann.Pereon@univ-nantes.fr
Yann PEREON, MD, PhD
Hôpital Pitié Salpêtrière
Paris, 75013
Coordinating investigator, guillaume.bassez@aphp.fr
Guillaume BASSEZ, MD
CHU de Toulouse - Hôpital
Toulouse, 40031
Principal Investigator, MD, cintas.p@chu-toulouse.fr
Pascal CINTAS, MD
About this study
Official title: 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.
Read the 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.
- Conditions
- Myotonic Dystrophy 1, Myotonic Dystrophy 2
- Keywords
- Ambispective, Retrospective, Prospective, Natural History, DM-Scope Registry, Observational, DM1, DM2
- Medical subject headings
- Myotonic Dystrophy
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
| Study group | Role | What they receive |
|---|---|---|
| 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 being measured
The primary outcome is the main question the study is designed to answer.
Change in stiffness severity assessed by Visual Analog Scale (VAS)
Absolute change in VAS stiffness score (0-100mm) between Baseline and Month 12
Measured: Baseline to Month 24
Change in myotonia severity assessed by the Myotonia Behavior Scale (MBS)
Absolute change in MBS score (1-6) between Baseline and Month 24.
Measured: Baseline to Month 24
Change in disease-related activity and participation assessed by DM1-Activ
Absolute change in DM1-Activ score (0-100) between Baseline and Month 24.
Measured: Baseline to Month 24
Change in health-related quality of life assessed by the Individualized Neuromuscular Quality of Life Questionnaire (INQoL)
Absolute change in INQoL: symptom subscores, life-domain subscores, overall total score, and treatment impact score (0-4 Likert) between Baseline and Month 24.
Measured: Baseline to Month 24
Change in walking performance assessed by the 10-Meter Walk Test (10mWT)
Absolute change in 10mWT (sec) performance between Baseline and Month 24.
Measured: Baseline to Month 24
Change in mobility and functional performance assessed by the Timed Up and Go Test (TUG)
Absolute change in TUG performance (sec) between Baseline and Month 24.
Measured: Baseline to Month 24
Secondary outcomes (10)
Change in cardiac function
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).
Measured: Baseline and all scheduled study timepoints, including retrospective assessments up to 18 months before enrollment.
Progression of opthalmologic manifestations
Presence or absence of cataracts at each study timepoint
Measured: Scheduled study timepoints, including retrospective assessments up to 18 months before enrollment.
Change in respiratory function
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.
Measured: Baseline and all scheduled study timepoints, including retrospective data up to 18 months.
Change in Physical Examination Findings
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.
Measured: Baseline and all scheduled study timepoints.
Safety and Tolerability
Evaluation of adverse events, clinical laboratory parameters (hematology and biochemistry) and concomitant medication use.
Measured: Throughout study participation.
Change in Gastrointestinal (GI) manifestations
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
Measured: Baseline and all scheduled study timepoints, including retrospective assessments up to 18 months before enrollment.
Change in muscle-related manifestations
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).
Measured: Baseline and all scheduled study timepoints.
Change in mobility and functional performance
Assessment of mobility and physical function, including number of accidental falls, 10-Meter Walk Test (10mWT), and Timed Up and Go Test (TUG).
Measured: Baseline and all scheduled study timepoints
Change in Quality of Life
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.
Measured: Baseline and all scheduled study timepoints.
Clinical Global Impression of disease severity and change
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.
Measured: Baseline and all scheduled study timepoints
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted28 Jul 2026
- Study start3 Aug 2026 (estimated)
- Primary completionSep 2029 (estimated)
- Study completionSep 2029 (estimated)
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Other trials for Myotonic Dystrophy 1Studies of the same condition, open and under way.
- What the trial phases meanHow a treatment moves from first tests in people to approval.
More details
For doctors and researchers: how the study is designed, who runs it, and its registry IDs.
Study design
- Study type
- Observational
- Observational model
- Cohort
- Time perspective
- Other
- Enrolment
- 100 participants (estimated)
- Target duration
- 24 Months
Sponsor and investigators
- Lead sponsor
- Lupin Ltd.
- Sponsor type
- Industry (pharma, biotech, devices)
- Collaborators
- Lupin Atlantis Holdings S.A.
- Responsible party
- Sponsor
- Investigators
- Alla Zozulya-Weidenfeller, PhD, Study chair, Lupin Atlantis Holdings S.A.
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT07732439
- Sponsor's protocol ID
- NHS-DM-401
- Other IDs
- ID-RCB Number: 2025-A02624-45
- Acronym
- Track-DM
- Status last verified
- Jul 2026
- First submitted
- 17 Jun 2026
- Last updated
- 28 Jul 2026
- Results posted
- No
- Data monitoring committee
- No
- FDA-regulated drug
- No
- FDA-regulated device
- No
- Individual data sharing
- Undecided
Study at a glance
From the registry record, last updated by the sponsor on 28 Jul 2026. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- An Ambispective 24-Month Longitudinal Natural History Study in Myotonic Dystrophy Patients Using DM-Scope Registry (TRACK-DM Study)
- ClinicalTrials.gov ID
- NCT07732439
- Acronym / sponsor ID
- Track-DM / NHS-DM-401
- Conditions
- Myotonic Dystrophy 1, Myotonic Dystrophy 2
- Keywords
- Ambispective, Retrospective, Prospective, Natural History, DM-Scope Registry, Observational, DM1, DM2
- Study type
- Observational
- Recruitment status
- Not yet recruiting
- Enrolment
- 100 participants (estimated)
- Lead sponsor
- Lupin Ltd.Industry (pharma, biotech, devices)
- Collaborators
- Lupin Atlantis Holdings S.A.
- Study start
- 3 Aug 2026 (estimated)
- Primary completion
- Sep 2029 (estimated)
- Study completion
- Sep 2029 (estimated)
- First posted
- 28 Jul 2026 (actual)
- Results
- Not posted in the source record
Clinical summary
The research question as the sponsor registered it. This describes what the study plans to test, not what it found.
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.
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 design
- Observational model
- Cohort
- Time perspective
- Other
- Target follow-up
- 24 Months
- Number of arms
- 3
| Arm | Type | Receives |
|---|---|---|
| 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. |
Who may qualify
- Ages
- 18 years and older
- Sex
- All
- Healthy volunteers
- Not accepted
- Age groups
- Adult, Older adult
- Study population
- All patients will be recruited from DM-Scope Registry
Key inclusion criteria (9 listed)
- 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.
Key exclusion criteria (8 listed)
- 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.
Eligibility is decided by the study team after screening; this overview does not establish that a patient qualifies. Full inclusion and exclusion criteria.
Primary outcome
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
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.
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.
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.
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.
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.
10 secondary outcomes
Change in cardiac function
Time frame: 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.
Change in respiratory function
Time frame: 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.
Safety and Tolerability
Time frame: 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.
Change in muscle-related manifestations
Time frame: Baseline and all scheduled study timepoints.
Change in mobility and functional performance
Time frame: Baseline and all scheduled study timepoints
Change in Quality of Life
Time frame: Baseline and all scheduled study timepoints.
Clinical Global Impression of disease severity and change
Time frame: Baseline and all scheduled study timepoints
Results and safety
This study is still under way. Results are not available in the source record yet.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 28 Jul 2026.
- Individual participant dataSharing planned: Undecided
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Referral and contact
AzTrials does not enrol participants or take referrals. Contact the study team or a site listed below; they decide who can take part.
Head, Global Medical Affairs & Clinical Development contact
Alla Zozulya-Weidenfeller, PhD study chair
Lupin Atlantis Holdings S.A.
6 sites in 1 country: see every site and its status.
Questions about this trial
What is this clinical trial studying?
An observational study of Myotonic Dystrophy 1 and Myotonic Dystrophy 2, run by Lupin Ltd. at 6 sites in France.
The full registered description is in the About this study section and the official record.
Who may be eligible to take part?
The sponsor lists 9 inclusion and 8 exclusion criteria. Eligibility is decided by the study team after screening, so read the full criteria and contact a listed site.
Is this clinical trial currently recruiting?
The record says: opening soon, as of the sponsor's last update on 28 Jul 2026. Status can change between updates, so confirm with the study contact before making plans.
Where is the study taking place?
The record lists 6 sites in France. Whether a site is taking part right now should be confirmed with that site. See every site.
What are the possible benefits and risks?
They depend on the study and the treatment, and no study can promise a benefit. The study team explains the known risks during informed consent, before anyone joins; the record itself does not list them.
Are results available for this study?
This study is still under way. Results are not available in the source record yet.
How can a doctor refer a patient or contact the research team?
Contact Director of Clinical Operations, Lupin Research Inc. (14433013146, jackieshaw@lupin.com), or a site near the patient. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
Change in stiffness severity assessed by Visual Analog Scale (VAS) (time frame: Baseline to Month 24). The study lists 6 primary outcomes in all. It is what the study was designed to measure, not a finding.
Where can I read the original study information?
Does a listing mean the treatment is approved or proven to work?
No. A listing means the study is registered. It does not show that the treatment is safe, works, or is approved by a regulator.
How often is this information updated?
AzTrials copies changed records from ClinicalTrials.gov every night and reloads the whole registry every week. The sponsor last updated this record on 28 Jul 2026.