A Registered Observational Cohort Study of Myotonic Dystrophy Type 1
For patients and families
In plain language
An automatic summary of structured registry data. It is an orientation aid, not a substitute for the official protocol or a physician assessment.
- What is being studied
- The protocol lists: Triplet-primed PCR or Long-read sequencing.
- Who it may be relevant to
- Registry conditions: Myotonic Dystrophy Type 1 (DM1). Basic parameters: No limits · All.
- What needs checking
- Age, condition and sex are only basic indicators. Prior treatment, laboratory values and other mandatory requirements appear in the eligibility criteria below.
- Where it takes place
- China
- Next step
- Save the trial, show it to the treating physician, and confirm current recruitment with the study center. Costs, documents and travel →
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Overview
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.
Interventions
- 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.
Primary outcome measures
- Triplet-primed PCR or Long-read sequencing [Time frame: Baseline]
- Muscle Impairment Rating Scale (MIRS) [Time frame: Baseline through study completion (an average of 1 year)]
- The modified Medical Research Council (MRC) scale [Time frame: Baseline through study completion (an average of 1 year)]
Secondary outcome measures (2)
- Changes in 6-Minute Walk Test [Time frame: Baseline through study completion (an average of 1 year)]
- Changes in 10 Metre Walk Test (10MWT) [Time frame: Baseline through study completion (an average of 1 year)]
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)
Criteria are shown verbatim from the registry (in English). Final eligibility is always assessed by the study center.
Healthy volunteers: Yes
Study design
- Observational model
- Cohort
Study locations
China · 1 center
- First Affiliated Hospital of Fujian Medical University — Fuzhou
Identifiers
NCT: NCT06979024 · MRCTA,ECFAH of FMU [2015]084-2 · 8240063043