A Registered Observational Cohort Study of Myotonic Dystrophy Type 1

Fujian Medical University (FJMU)

Status: Invitation-only

Conditions: Myotonic Dystrophy Type 1 (DM1)

Treatments: Genetic: Triplet-primed PCR or Long-read sequencing

Study type: Observational

Funder types: Other

Identifiers

NCT06979024

MRCTA,ECFAH of FMU [2015]084-2

8240063043 (Other Grant/Funding Number)

Details and patient eligibility

About

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

Full 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.

Enrollment: 300 estimated patients

Sex: All

Volunteers: Accepts Healthy Volunteers

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)

Trial design

300 participants in 1 patient group

Cohort of Patients with Myotonic Dystrophy Type 1 (DM1)

Description:

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.

Treatment:

Genetic: Triplet-primed PCR or Long-read sequencing