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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)

torstai 23. heinäkuuta 2026 päivittänyt: 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.

Tutkimuksen yleiskatsaus

Tila

Ei vielä rekrytointia

Ehdot

Yksityiskohtainen kuvaus

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.

Opintotyyppi

Havainnollistava

Ilmoittautuminen (Arvioitu)

100

Yhteystiedot ja paikat

Tässä osiossa on tutkimuksen suorittajien yhteystiedot ja tiedot siitä, missä tämä tutkimus suoritetaan.

Opiskeluyhteys

  • Nimi: Director of Clinical Operations, Lupin Research Inc.
  • Puhelinnumero: 14433013146
  • Sähköposti: jackieshaw@lupin.com

Tutki yhteystietojen varmuuskopiointi

Opiskelupaikat

  • Ranska
      • Angers, Ranska, 75651
        • Centre Hospitalier Universitaire d'Angers
        • Ottaa yhteyttä:
        • Päätutkija:
          • Marco SPINAZZI, MD, PhD
      • Lille, Ranska, 59037
        • CHU de Lille - Hôpital
        • Ottaa yhteyttä:
        • Päätutkija:
          • Celine TARD, MD, PhD
      • Marseille, Ranska, 13005
        • CHU LA TIMONE - Service des Maladies
        • Ottaa yhteyttä:
        • Päätutkija:
          • Shahram ATTARIAN, MD, PhD
      • Nantes, Ranska, 44093
        • Centre de référence des maladies neuromusculaires
        • Päätutkija:
          • Yann PEREON, MD, PhD
        • Ottaa yhteyttä:
      • Paris, Ranska, 75013
        • Hôpital Pitie Salpétrière
        • Päätutkija:
          • Guillaume BASSEZ, MD
        • Ottaa yhteyttä:
      • Toulouse, Ranska, 40031
        • CHU de Toulouse - Hôpital
        • Päätutkija:
          • Pascal CINTAS, MD
        • Ottaa yhteyttä:

Osallistumiskriteerit

Tutkijat etsivät ihmisiä, jotka sopivat tiettyyn kuvaukseen, jota kutsutaan kelpoisuuskriteereiksi. Joitakin esimerkkejä näistä kriteereistä ovat henkilön yleinen terveydentila tai aiemmat hoidot.

Kelpoisuusvaatimukset

Opintokelpoiset iät

  • Aikuinen
  • Vanhempi Aikuinen

Hyväksyy terveitä vapaaehtoisia

Ei

Näytteenottomenetelmä

Ei-todennäköisyysnäyte

Tutkimusväestö

All patients will be recruited from DM-Scope Registry

Kuvaus

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).

Opintosuunnitelma

Tässä osiossa on tietoja tutkimussuunnitelmasta, mukaan lukien kuinka tutkimus on suunniteltu ja mitä tutkimuksella mitataan.

Miten tutkimus on suunniteltu?

Suunnittelun yksityiskohdat

Kohortit ja interventiot

Ryhmä/Kohortti
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.

Mitä tutkimuksessa mitataan?

Ensisijaiset tulostoimenpiteet

Tulosmittaus
Toimenpiteen kuvaus
Aikaikkuna
Change in stiffness severity assessed by Visual Analog Scale (VAS)
Aikaikkuna: 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)
Aikaikkuna: 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
Aikaikkuna: 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)
Aikaikkuna: 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)
Aikaikkuna: 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)
Aikaikkuna: Baseline to Month 24
Absolute change in TUG performance (sec) between Baseline and Month 24.
Baseline to Month 24

Toissijaiset tulostoimenpiteet

Tulosmittaus
Toimenpiteen kuvaus
Aikaikkuna
Change in cardiac function
Aikaikkuna: 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
Aikaikkuna: 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
Aikaikkuna: 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
Aikaikkuna: 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
Aikaikkuna: 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
Aikaikkuna: 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
Aikaikkuna: 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
Aikaikkuna: 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
Aikaikkuna: 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
Aikaikkuna: 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

Muut tulostoimenpiteet

Tulosmittaus
Toimenpiteen kuvaus
Aikaikkuna
Exploratory Sub-study - Change in Motor Function Measures (MFM-32)
Aikaikkuna: 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)
Aikaikkuna: 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
Aikaikkuna: 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
Aikaikkuna: 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
Aikaikkuna: 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
Aikaikkuna: 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
Aikaikkuna: 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.
Aikaikkuna: 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
Aikaikkuna: 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
Aikaikkuna: 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
Aikaikkuna: 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
Aikaikkuna: Baseline and all scheduled study timepoints
Assessment of changes in daily physical activity captured by wearable device.
Baseline and all scheduled study timepoints

Yhteistyökumppanit ja tutkijat

Täältä löydät tähän tutkimukseen osallistuvat ihmiset ja organisaatiot.

Sponsori

Lupin Ltd.

Yhteistyökumppanit

Lupin Atlantis Holdings S.A.

Tutkijat

  • Opintojen puheenjohtaja: Alla Zozulya-Weidenfeller, PhD, Lupin Atlantis Holdings S.A.

Opintojen ennätyspäivät

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Muita asiaankuuluvia MeSH-ehtoja

Muut tutkimustunnusnumerot

  • NHS-DM-401
  • ID-RCB Number: 2025-A02624-45 (Muu tunniste: ANSM)

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