Not provided
Not provided
| ID | Type | Description | Link |
|---|---|---|---|
| 8240063043 | Other Grant/Funding Number | the National Natural Science Foundation of China |
Not provided
Not provided
Not provided
Not provided
Not provided
Not provided
Not provided
Not provided
Not provided
Not provided
Not provided
Not provided
Not provided
Not provided
Not provided
Not provided
Not provided
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
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.
Not provided
Not provided
Not provided
Not provided
| Label | Type | Description | Intervention Names |
|---|---|---|---|
| Cohort of Patients with Myotonic Dystrophy Type 1 (DM1) | This cohort includes patients with Myotonic Dystrophy Type 1 (DM1), focusing on clinical observations to understand the natural progression of the disease. Observations cover changes in muscle function, respiratory capacity, cardiac health, and quality of life. Additionally, third-generation sequencing is used to determine repeat numbers, exploring the relationship between repeat expansion and clinical phenotypes. These insights aim to identify biomarkers of disease progression and provide foundational data for future therapeutic research. |
|
| Name | Type | Description | Arm Group Labels | Other Names |
|---|---|---|---|---|
| Triplet-primed PCR or Long-read sequencing | Genetic | 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. |
| Measure | Description | Time Frame |
|---|---|---|
| Triplet-primed PCR or Long-read sequencing | 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. | Baseline |
| Muscle Impairment Rating Scale (MIRS) | 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. | Baseline through study completion (an average of 1 year) |
| The modified Medical Research Council (MRC) scale | 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. | Baseline through study completion (an average of 1 year) |
| Measure | Description | Time Frame |
|---|---|---|
| Changes in 6-Minute Walk Test | 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. | Baseline through study completion (an average of 1 year) |
| Changes in 10 Metre Walk Test (10MWT) |
Not provided
Inclusion Criteria:
Exclusion Criteria:
Not provided
Not provided
Not provided
Not provided
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.
Not provided
Not provided
| Facility | Status | City | State | ZIP | Country | Contacts |
|---|---|---|---|---|---|---|
| First Affiliated Hospital of Fujian Medical University | Fuzhou | Fujian | 350005 | China |
Requests for IPD will be evaluated on a case-by-case basis.
Not provided
Not provided
Not provided
Not provided
Not provided
| ID | Term |
|---|---|
| D009223 | Myotonic Dystrophy |
| ID | Term |
|---|---|
| D009136 | Muscular Dystrophies |
| D020966 | Muscular Disorders, Atrophic |
| D009135 | Muscular Diseases |
| D009140 | Musculoskeletal Diseases |
Not provided
Not provided
Not provided
Not provided
Not provided
Blood samples stored in -80
|
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. |
| Baseline through study completion (an average of 1 year) |
| D020967 | Myotonic Disorders |
| D020271 | Heredodegenerative Disorders, Nervous System |
| D019636 | Neurodegenerative Diseases |
| D009422 | Nervous System Diseases |
| D009468 | Neuromuscular Diseases |
| D030342 | Genetic Diseases, Inborn |
| D009358 | Congenital, Hereditary, and Neonatal Diseases and Abnormalities |