A Registered Observational Cohort Study of Myotonic Dystrophy Type 1

NCT06979024 | Enrolling By Invitation

• 2 other identifiers: MRCTA,ECFAH of FMU [2015]084-28240063043
• Study Type: observational
• Target: 300
• Locations: 1 country
• Sites: 1

Brief Summary

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

Conditions

Myotonic Dystrophy Type 1 (DM1)

Keywords

Myotonic Dystrophy Type 1; Tandem repeat

Outcome Measures

Primary Outcomes (3)

• Triplet-primed PCR or Long-read sequencing

  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.

  Baseline

• Muscle Impairment Rating Scale (MIRS)

  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.

  Baseline through study completion (an average of 1 year)

• The modified Medical Research Council (MRC) scale

  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.

  Baseline through study completion (an average of 1 year)

Secondary Outcomes (2)

• Changes in 6-Minute Walk Test

  Baseline through study completion (an average of 1 year)

• Changes in 10 Metre Walk Test (10MWT)

  Baseline through study completion (an average of 1 year)

Study Arms (1)

Cohort of Patients with Myotonic Dystrophy Type 1 (DM1)

This cohort includes patients with Myotonic Dystrophy Type 1 (DM1), focusing on clinical observations to understand the natural progression of the disease. Observations cover changes in muscle function, respiratory capacity, cardiac health, and quality of life. Additionally, third-generation sequencing is used to determine repeat numbers, exploring the relationship between repeat expansion and clinical phenotypes. These insights aim to identify biomarkers of disease progression and provide foundational data for future therapeutic research.

Genetic: Triplet-primed PCR or Long-read sequencing

Interventions

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.

Cohort of Patients with Myotonic Dystrophy Type 1 (DM1)

Eligibility Criteria

• Sex: all
• Healthy Volunteers: Yes
• Age Groups: Child (0-17), Adult (18-64), Older Adult (65+)
• Sampling Method: Non-Probability Sample

Study Population

All genetically-confirmed DM1 patients from families (with at least 1 affected member) in China, irrespective of age. The CTG repeats presented at least 50 repeats in DMPK gene, the diagnosis of which was performed at Fujian Neuromedical Center (FNMC), the clinical genetic test hospital for DM1 in China to employ triplet-primed PCR or long-read sequencing technology.

You may qualify if:

• 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

You may not qualify if:

• 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)

Sponsors & Collaborators

• First Affiliated Hospital of Fujian Medical University: lead

Study Sites (1)

First Affiliated Hospital of Fujian Medical University

Fuzhou, Fujian, 350005, China

Location

Biospecimen

Retention: SAMPLES WITH DNA

Blood samples stored in -80

MeSH Terms

Conditions

Myotonic Dystrophy

Condition Hierarchy (Ancestors)

Muscular Dystrophies; Muscular Disorders, Atrophic; Muscular Diseases; Musculoskeletal Diseases; Myotonic Disorders; Heredodegenerative Disorders, Nervous System; Neurodegenerative Diseases; Nervous System Diseases; Neuromuscular Diseases; Genetic Diseases, Inborn; Congenital, Hereditary, and Neonatal Diseases and Abnormalities

Study Design

• Study Type: observational
• Observational Model: COHORT
• Time Perspective: PROSPECTIVE
• Target Duration: 5 Years
• Sponsor Type: OTHER
• Responsible Party: SPONSOR

Study Record Dates

• First Submitted: April 28, 2025
• First Posted: May 18, 2025
• Study Start: January 1, 2008
• Primary Completion (Estimated): December 1, 2038
• Study Completion (Estimated): December 1, 2038
• Last Updated: May 18, 2025

Record last verified: 2025-05

Locations

CN (1)