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NCT06101940

A Multicenter Phenotype-Genotype Analysis of DM1 Patients in China

ENROLLING BY INVITATION Last updated 16 September 2025
What this trial tests

trial testing MRI scan in Myotonic Dystrophy 1 in 500 participants. Enrolling by invitation.

Timeline
1 August 2021
Primary endpoint
1 August 2030
30 December 2032

Quick facts

Lead sponsorHuashan Hospital
StatusENROLLING BY INVITATION
Study typeOBSERVATIONAL
Enrollment500
Start date1 August 2021
Primary completion1 August 2030
Estimated completion30 December 2032
Sites22 locations across China

Drugs / interventions tested

Conditions studied

Sponsor

Huashan Hospital

Who can join

Adults 18 to 80, any sex, with Myotonic Dystrophy 1. Patients with the condition only — healthy volunteers not accepted.

Sponsor's own 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. 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.

Publications & conference data

1 peer-reviewed publication reference this trial (live from Europe PMC):

  1. Clinical features and genetic spectrum of a multicenter Chinese cohort with myotonic dystrophy type 1.
    Zhong H, Zeng L, Yu X, Ke Q, et al · · 2024 · cited 2× · PMID 38454488 · DOI 10.1186/s13023-024-03114-z

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Other trials of MRI scan

Trials testing the same drug.

Other recruiting trials for Myotonic Dystrophy 1

Currently open trials in the same condition.

Other Huashan Hospital trials

Trials by the same sponsor.

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Data sources for this page

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