MedTrace Logo

Genetics of Charcot-Marie-Tooth Dystrophy and Related Diseases

NCT04967716 · Status: UNKNOWN · Type: OBSERVATIONAL · Enrollment: 200

Last updated 2021-07-19

No results posted yet for this study

Summary

This is a cross-sectional study to clarify the gene lineage distribution of CMT genes in CMT patients in my country, draw a frequency map of CMT gene distribution, and assist in determining the genetic diagnosis strategy of CMT diseases. All patients will be collected for clinical and electrophysiological data. Patients and families who meet the enrollment criteria will be tested for blood tests.

Conditions

  • Peroneal Muscular Atrophy

Interventions

OTHER

basic information

Demographic data registration, medical history inquiry, physical examination; electromyography, nerve conduction velocity examination; CMT nerve function score;

OTHER

venous blood test

The specific method is as follows: 12ml of peripheral blood is drawn from the peripheral vein, and EDTA is used for anticoagulation. No fasting is required before blood draw, and there is no time limit. Part of the specimens submitted for inspection are sent to a qualified genetic testing company for examination, and the fees are charged in accordance with the corresponding charging standards set by the hospital. The remaining part of the sample will be stored or accumulated for a period of time, and the DNA will be extracted and stored in the sample library.

Sponsors & Collaborators

  • Peking University Third Hospital

    lead OTHER

Principal Investigators

  • Xiaoxuan Liu · Peking University Third Hospital

Eligibility

Sex
ALL
Healthy Volunteers
No

Timeline & Regulatory

Start
2018-11-01
Primary Completion
2021-09-01
Completion
2021-12-31

Countries

  • China

Study Locations

More Related Trials

Read the full study record

This page highlights key information. For complete eligibility criteria, study locations, investigator contacts, and the full protocol, visit the original record on ClinicalTrials.gov.

View NCT04967716 on ClinicalTrials.gov