A Multicenter Phenotype-Genotype Analysis of DM1 Patients in China

Fudan University

Status

Invitation-only

Conditions

Myotonic Dystrophy 1

Treatments

Diagnostic Test: Pulmonary function test

Diagnostic Test: MRI scan

Diagnostic Test: Electrocardiography

Study type

Observational

Funder types

Other

Identifiers

NCT06101940

KY2020-008

Details and patient eligibility

About

Myotonic dystrophy 1 (DM1) is an autosomal, dominantly inherited neuromuscular disorder characterized by skeletal muscle weakness, myotonia, cardiac conduction abnormalities, cataracts, and other abnormalities. This disease results from an expansion of a cytosine-thymine-guanine (CTG) trinucleotide repeat in the 3'-untranslated region of the dystrophia myotonica protein kinase (DMPK) gene on chromosome 19. Currently, there is limited phenotype and genotype data available for DM1 patients with Chinese Han ethnicity. Therefore, this study aims to fill this gap and provide complementary data.

Full description

This multicenter, prospective, observational study investigates the diagnosis and progression of Myotonic Dystrophy Type 1 (DM1) in Chinese patients through comprehensive data collection. The research protocol includes clinical assessments (strength evaluations, cognitive testing), diagnostic studies (genetic analysis, electromyography), imaging modalities (MRI, echocardiography, electrocardiography), functional evaluations (pulmonary function tests, posture and movement video analysis), and biological sampling (blood and muscle specimens). This integrated approach enables systematic characterization of DM1 manifestations across multiple organ systems, facilitating better understanding of disease progression patterns and potential biomarker identification in the Chinese population.

Enrollment

500 estimated patients

Sex

All

Ages

18 to 80 years old

Volunteers

Accepts Healthy Volunteers

Inclusion criteria

Age between 18-80 years
With enough cognitivie ability to understand the content and sign the informed consent form
With CTG repeats >50 in DMPK gene, revealed by PCR test

Exclusion criteria

Patients with severe mental illness, or severe anxiety and depression
With comorbidities such as traumatic brain injury and cranial tumors
A history of alcoholism, psychotropic substance abuse, etc.
Patients with severe medical conditions and unstable vital signs that cannot tolerate the tests.
Female in pregnancy