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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)

2026年7月23日 更新者：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.

調査の概要

状態

まだ募集していません

条件

詳細な説明

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.

研究の種類

観察的

入学 (推定)

100

連絡先と場所

このセクションには、調査を実施する担当者の連絡先の詳細と、この調査が実施されている場所に関する情報が記載されています。

研究連絡先

  • 名前：Director of Clinical Operations, Lupin Research Inc.
  • 電話番号：14433013146
  • メール：jackieshaw@lupin.com

研究連絡先のバックアップ

研究場所

  • フランス
      • Angers、フランス、75651
        • Centre Hospitalier Universitaire d'Angers
        • コンタクト：
        • 主任研究者：
          • Marco SPINAZZI, MD, PhD
      • Lille、フランス、59037
        • CHU de Lille - Hôpital
        • コンタクト：
        • 主任研究者：
          • Celine TARD, MD, PhD
      • Marseille、フランス、13005
        • CHU LA TIMONE - Service des Maladies
        • コンタクト：
        • 主任研究者：
          • Shahram ATTARIAN, MD, PhD
      • Nantes、フランス、44093
        • Centre de référence des maladies neuromusculaires
        • 主任研究者：
          • Yann PEREON, MD, PhD
        • コンタクト：
      • Paris、フランス、75013
        • Hôpital Pitie Salpétrière
        • 主任研究者：
          • Guillaume BASSEZ, MD
        • コンタクト：
      • Toulouse、フランス、40031
        • CHU de Toulouse - Hôpital
        • 主任研究者：
          • Pascal CINTAS, MD
        • コンタクト：

参加基準

研究者は、適格基準と呼ばれる特定の説明に適合する人を探します。これらの基準のいくつかの例は、人の一般的な健康状態または以前の治療です。

適格基準

就学可能な年齢

  • 大人
  • 高齢者

健康ボランティアの受け入れ

いいえ

サンプリング方法

非確率サンプル

調査対象母集団

All patients will be recruited from DM-Scope Registry

説明

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).

研究計画

このセクションでは、研究がどのように設計され、研究が何を測定しているかなど、研究計画の詳細を提供します。

研究はどのように設計されていますか？

デザインの詳細

コホートと介入

グループ/コホート
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.

この研究は何を測定していますか？

主要な結果の測定

結果測定
メジャーの説明
時間枠
Change in stiffness severity assessed by Visual Analog Scale (VAS)
時間枠：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)
時間枠：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
時間枠：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)
時間枠：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)
時間枠：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)
時間枠：Baseline to Month 24
Absolute change in TUG performance (sec) between Baseline and Month 24.
Baseline to Month 24

二次結果の測定

結果測定
メジャーの説明
時間枠
Change in cardiac function
時間枠：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
時間枠：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
時間枠：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
時間枠：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
時間枠：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
時間枠：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
時間枠：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
時間枠：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
時間枠：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
時間枠：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

その他の成果指標

結果測定
メジャーの説明
時間枠
Exploratory Sub-study - Change in Motor Function Measures (MFM-32)
時間枠：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)
時間枠：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
時間枠：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
時間枠：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
時間枠：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
時間枠：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
時間枠：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.
時間枠：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
時間枠：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
時間枠：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
時間枠：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
時間枠：Baseline and all scheduled study timepoints
Assessment of changes in daily physical activity captured by wearable device.
Baseline and all scheduled study timepoints

協力者と研究者

ここでは、この調査に関係する人々や組織を見つけることができます。

スポンサー

Lupin Ltd.

協力者

Lupin Atlantis Holdings S.A.

捜査官

  • スタディチェア：Alla Zozulya-Weidenfeller, PhD、Lupin Atlantis Holdings S.A.

研究記録日

これらの日付は、ClinicalTrials.gov への研究記録と要約結果の提出の進捗状況を追跡します。研究記録と報告された結果は、国立医学図書館 (NLM) によって審査され、公開 Web サイトに掲載される前に、特定の品質管理基準を満たしていることが確認されます。

主要日程の研究

研究開始 (推定)

2026年8月3日

一次修了 (推定)

2029年9月1日

研究の完了 (推定)

2029年9月1日

試験登録日

最初に提出

2026年6月17日

QC基準を満たした最初の提出物

2026年7月23日

最初の投稿 (実際)

2026年7月28日

学習記録の更新

投稿された最後の更新 (実際)

2026年7月28日

QC基準を満たした最後の更新が送信されました

2026年7月23日

最終確認日

2026年7月1日

詳しくは

本研究に関する用語

キーワード

追加の関連 MeSH 用語

その他の研究ID番号

  • NHS-DM-401
  • ID-RCB Number: 2025-A02624-45 (その他の識別子：ANSM)

個々の参加者データ (IPD) の計画

個々の参加者データ (IPD) を共有する予定はありますか?

未定

医薬品およびデバイス情報、研究文書

米国FDA規制医薬品の研究

いいえ

米国FDA規制機器製品の研究

いいえ

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