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Enrolling by Invitation

NCT Number: NCT06979024

A Registered Observational Cohort Study of Myotonic Dystrophy Type 1

Myotonic dystrophy type 1 (DM1) is the most common form of muscular dystrophy.There is little phenotype and genetic data for Chinese DM1 patients. The data to be collected is intended to fill this gap and provide complementary data

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Key information

Conditions

Myotonic Dystrophy Type 1 (DM1) Congenital, Hereditary, and Neonatal Diseases and Abnormalities Genetic Diseases, Inborn Heredodegenerative Disorders, Nervous System Muscular Diseases Muscular Disorders, Atrophic Muscular Dystrophies Musculoskeletal Diseases Myotonic Disorders Myotonic Dystrophy Nervous System Diseases Neurodegenerative Diseases Neuromuscular Diseases

Sex eligibility

All sexes

Study type

Observational

Primary location

First Affiliated Hospital of Fujian Medical University

Fuzhou, Fujian, 350005, China

About this study

Myotonic dystrophy 1 (DM1) is an autosomal, dominantly inherited neuromuscular disorder characterized by skeletal muscle weakness, myotonia, cardiac conduction abnormalities, cataracts, and other abnormalities. The China DM1 patient registry is a nationwide, population-based, non-interventional, observational cohort clinical study of all age groups of genetically-confirmed DM1 patients from families (with at least 1 affected member), collecting data retrospectively at study entry and prospectively during follow up. Currently, there is limited phenotype and genotype data available for DM1 patients with Chinese Han ethnicity. Therefore, the data to be collected is intended to fill this gap and provide complementary data.

Who can participate

Healthy volunteers accepted: Yes

Only the study team can determine whether someone qualifies for participation.

Inclusion criteria

  • Male or female subjects of all ages at baseline
  • Subjects, with or without symptoms, with DM1 genetic confirmation through triplet-primed PCR or long-read sequencing
  • Unrelated healthy controls

Exclusion criteria

  • Decline to participate
  • Other neuromuscular disease (such as Limb-girdle muscular dystrophy or Oculopharyngodistal Myopathy)
  • Serious systemic illness (such as heart, liver, kidney disease or major mental illness)

Treatment and study plan

Triplet-primed PCR or Long-read sequencing

Genetic

This study involves long-read sequencing in patients with Myotonic Dystrophy Type 1 (DM1) to identify specific motifs, determine the range of repeat numbers, and assess the presence of interruptions in the CTG repeat sequence. The aim is to gain insights into the genetic variability and its clinical implications in DM1.

Primary outcomes

  1. Triplet-primed PCR or Long-read sequencing

    Time frame: Baseline

    Genetic test of triplet-primed PCR or long-read sequencing is performed for these clinical suspected DM1 patients on the basis of the family as a whole. Eligible participants are genetically confirmed patients With CTG repeats >50 in DMPK gene.

  2. Muscle Impairment Rating Scale (MIRS)

    Time frame: Baseline through study completion (an average of 1 year)

    This scale evaluates muscular impairment severity according to an ordinal 5-point scale as follows: (1) no muscular impairment, (2) minimal signs, (3) distal weakness, (4) mild to moderate proximal weakness, and (5) severe proximal weakness.

  3. The modified Medical Research Council (MRC) scale

    Time frame: Baseline through study completion (an average of 1 year)

    The modified Medical Research Council (MRC) scale is used to assess numerically the muscle strength of DM1 participants. Firstly, muscles are tested bilaterally (when applicable) in standardized positions with manual muscle testing (MMT) scores. Then, MMT scores are converted to calculable data of the modified MRC scale.

Secondary outcomes

  1. Changes in 6-Minute Walk Test

    Time frame: Baseline through study completion (an average of 1 year)

    The 6-Minute Walk Test is a sub-maximal exercise test used to assess aerobic capacity and endurance. The distance covered in 6 minutes serves as the outcome for comparing changes in performance capacity.

  2. Changes in 10 Metre Walk Test (10MWT)

    Time frame: Baseline through study completion (an average of 1 year)

    The 10 Metre Walk Test is a performance measure used to assess walking speed in meters per second over a short distance. It can be employed to determine functional mobility, gait, and vestibular function.

Sponsors and collaborators

Lead sponsor

First Affiliated Hospital of Fujian Medical University

Other

Registry information

Important dates

Study start
2008
Primary completion
2038
Study completion
2038
First posted
May 18, 2025
Registry last updated
May 18, 2025

OpenTrials presents study information sourced from ClinicalTrials.gov. The official registry record should be consulted for the latest information.

View the official ClinicalTrials.gov record (opens in a new tab)

This listing is for discovery and informational purposes only. It is not medical advice, does not guarantee that a study is recruiting, and does not determine eligibility. Contact the study team and a qualified healthcare professional when considering participation.

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