Myotonic Dystrophy Type 1 (DM1)
Conditions
Keywords
Myotonic Dystrophy Type 1, Tandem repeat
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.
Interventions
GENETICTriplet-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.
Sponsors
First Affiliated Hospital of Fujian Medical University
Study design
Observational model
COHORT
Time perspective
PROSPECTIVE
Eligibility
Sex/Gender
ALL
Healthy volunteers
Yes
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)
Design outcomes
Primary
| Measure | Time frame | Description |
|---|---|---|
| Muscle Impairment Rating Scale (MIRS) | Baseline through study completion (an average of 1 year) | This scale evaluates muscular impairment severity according to an ordinal 5-point scale as follows: (1) no muscular impairment, (2) minimal signs, (3) distal weakness, (4) mild to moderate proximal weakness, and (5) severe proximal weakness. |
| Triplet-primed PCR or Long-read sequencing | Baseline | Genetic test of triplet-primed PCR or long-read sequencing is performed for these clinical suspected DM1 patients on the basis of the family as a whole. Eligible participants are genetically confirmed patients With CTG repeats \>50 in DMPK gene. |
| The modified Medical Research Council (MRC) scale | Baseline through study completion (an average of 1 year) | The modified Medical Research Council (MRC) scale is used to assess numerically the muscle strength of DM1 participants. Firstly, muscles are tested bilaterally (when applicable) in standardized positions with manual muscle testing (MMT) scores. Then, MMT scores are converted to calculable data of the modified MRC scale. |
Secondary
| Measure | Time frame | Description |
|---|---|---|
| Changes in 6-Minute Walk Test | Baseline through study completion (an average of 1 year) | The 6-Minute Walk Test is a sub-maximal exercise test used to assess aerobic capacity and endurance. The distance covered in 6 minutes serves as the outcome for comparing changes in performance capacity. |
| Changes in 10 Metre Walk Test (10MWT) | Baseline through study completion (an average of 1 year) | The 10 Metre Walk Test is a performance measure used to assess walking speed in meters per second over a short distance. It can be employed to determine functional mobility, gait, and vestibular function. |
Countries
China
Outcome results
None listed