By InvitationNot Applicable

A Multicenter Phenotype-Genotype Analysis of DM1 Patients in China

China500 participantsStarted 2021-08-01

Plain-language summary

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.

Who can participate

Age range18 Years – 80 Years

SexALL

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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

What they're measuring

Changes in 10 Metre Walk Test (10MWT)

Timeframe: Baseline, Year 3, Year 5

Trial details

NCT IDNCT06101940

SponsorHuashan Hospital

Sponsor typeOTHER

Study typeOBSERVATIONAL

Primary completion2030-08-01

View on ClinicalTrials.gov More Myotonic Dystrophy 1 trials