A Multicenter Phenotype-Genotype Analysis of DM1 Patients in China

Myotonic Dystrophy 1 Clinical Trial

Official title:

A Multicenter Phenotype-Genotype Analysis of Type 1 Myotonic Dystrophy 1 Patients in China

Clinical Trial Details — Status: Enrolling by invitation

Administrative data

• NCT number: NCT06101940
• Other study ID #: KY2020-008
• Status: Enrolling by invitation
• Start date: August 1, 2021
• Est. completion date: December 30, 2026

Study information

• Verified date: October 2023
• Source: Huashan Hospital
• Contact: n/a
• Is FDA regulated: No
• Study type: Observational

Clinical Trial 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.

Description:

This is a multicenter-based, prospective, observational study that primarily focuses on the diagnosis and progression of DM1 patients in China. The investigators collect patient data, including basic information, strength evaluations, genetic data, electromyography results, cognitive performance, and MRIs.

Recruitment information / eligibility

• Status: Enrolling by invitation
• Enrollment: 300
• Est. completion date: December 30, 2026
• Est. primary completion date: August 1, 2026
• Accepts healthy volunteers: Accepts Healthy Volunteers
• Gender: All
• Age group: 18 Years to 80 Years

Eligibility

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

Related Conditions & MeSH terms

• Myotonic Dystrophy
• Myotonic Dystrophy 1

Intervention

Diagnostic Test:
• Brain MRI scan
Normal brain MRI scan to evaluate the integrity of the nervous system

Locations

Country	Name	City	State
China	Huashan Hospital	Shanghai

Sponsors (1)

Lead Sponsor	Collaborator
Huashan Hospital

Country where clinical trial is conducted

China, 

Outcome

Type	Measure	Description	Time frame	Safety issue
Primary	Changes in 10 Metre Walk Test (10MWT)	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, Year 3, Year 5
Secondary	Changes in ESS scale	The Epworth Sleepiness Scale (ESS) measures the general level of daytime sleepiness. It is a subjective scale ranging from 0 to 24, asking the respondent to rate their propensity to doze off or fall asleep during eight common daily activities to assess the level of daytime sleepiness. A higher score on the ESS indicates a greater likelihood of daytime dozing.	Baseline, Year 3, Year 5
Secondary	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, Year 3, Year 5
Secondary	Changes in FSS scale	The Fatigue Severity Scale (FSS) is a method for evaluating the impact of fatigue on the participant. The FSS questionnaire contains nine statements that rate the severity of the participant's fatigue symptoms, ranging from 7 to 63. A higher score indicates more severe fatigue symptoms in the participant.	Baseline, Year 3, Year 5