NCT06979024

A Registered Observational Cohort Study of Myotonic Dystrophy Type 1

• Status: Enrolling By Invitation
• Phase: —
• Study type: Observational
• Enrollment: 300 (estimated)
• Sponsor: First Affiliated Hospital of Fujian Medical University · Academic / Other
• Sex: All
• Age: —
• Healthy volunteers: Accepted

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)

Interventions

Type	Name	Description
GENETIC	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.

Timeline

• Start date: 2008-01-01
• Primary completion: 2038-12-01
• Completion: 2038-12-01
• First posted: 2025-05-18
• Last updated: 2025-05-18

Locations

1 site across 1 country: China