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A Registered Observational Cohort Study of Myotonic Dystrophy Type 1
Sponsor: First Affiliated Hospital of Fujian Medical University
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
Key Details
Gender
All
Age Range
Any - Any
Study Type
OBSERVATIONAL
Enrollment
300
Start Date
2008-01
Completion Date
2038-12
Last Updated
2025-05-18
Healthy Volunteers
Yes
Conditions
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.
Locations (1)
First Affiliated Hospital of Fujian Medical University
Fuzhou, Fujian, China