A Registered Observational Cohort Study of Myotonic Dystrophy Type 1

NCT ID: NCT06979024

Last Updated: 2025-05-18

Basic Information

• Recruitment Status: ENROLLING_BY_INVITATION
• Total Enrollment: 300 participants
• Study Classification: OBSERVATIONAL
• Study Start Date: 2008-01-31
• Study Completion Date: 2038-12-31

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

Detailed Description

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.

Conditions

Myotonic Dystrophy Type 1 (DM1)

Study Design

• Observational Model Type: COHORT
• Study Time Perspective: PROSPECTIVE

Study Groups

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.

Triplet-primed PCR or Long-read sequencing

Intervention Type: 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.

Interventions

Triplet-primed PCR or Long-read sequencing

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.

Intervention Type: GENETIC

Eligibility Criteria

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)

• Eligible Sex: ALL
• Accepts Healthy Volunteers: Yes

Sponsors

First Affiliated Hospital of Fujian Medical University

OTHER

Sponsor Role: lead

Responsible Party

Responsibility Role: SPONSOR

Locations

First Affiliated Hospital of Fujian Medical University

Fuzhou, Fujian, China

Countries

China

Other Identifiers

8240063043

Identifier Type: OTHER_GRANT

Identifier Source: secondary_id

MRCTA,ECFAH of FMU [2015]084-2

Identifier Type: -

Identifier Source: org_study_id