Clinical trial NCT06979024: A Registered Observational Cohort Study of Myotonic Dystrophy Type 1
Official title: A Registered Observational Cohort Study of Myotonic Dystrophy Type 1
Study type: OBSERVATIONAL
Overall status: ENROLLING_BY_INVITATION
Conditions: Myotonic Dystrophy Type 1 (DM1)
Keywords: Myotonic Dystrophy Type 1
Tandem repeat
Lead sponsor: First Affiliated Hospital of Fujian Medical University
Sponsor class: OTHER
First posted: 2025-05-18
Enrollment: 300
Sex: ALL
Standard ages: CHILD
ADULT
OLDER_ADULT
Accepts healthy volunteers: yes
Observational model: COHORT
Time perspective: PROSPECTIVE
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.

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.

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)

Primary outcomes:
measure: Triplet-primed PCR or Long-read sequencing
timeFrame: Baseline
measure: Muscle Impairment Rating Scale (MIRS)
timeFrame: Baseline through study completion (an average of 1 year)
measure: The modified Medical Research Council (MRC) scale
timeFrame: Baseline through study completion (an average of 1 year)
Secondary outcomes:
measure: Changes in 6-Minute Walk Test
timeFrame: Baseline through study completion (an average of 1 year)
measure: Changes in 10 Metre Walk Test (10MWT)
timeFrame: Baseline through study completion (an average of 1 year)
Other outcomes:
Locations:
city: Fuzhou
country: China
facility: First Affiliated Hospital of Fujian Medical University
state: Fujian
Study officials:
References: