Genetics of Charcot-Marie-Tooth Dystrophy and Related Diseases

NCT ID: NCT04967716

Last Updated: 2021-07-19

Basic Information

• Recruitment Status: UNKNOWN
• Total Enrollment: 200 participants
• Study Classification: OBSERVATIONAL
• Study Start Date: 2018-11-01
• Study Completion Date: 2021-12-31

Brief 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.

Detailed Description

[Background] Peroneal muscular atrophy (Charcot-Marie-Tooth, CMT) is a group of the most common hereditary peripheral neuropathy, with a prevalence of about 1/2500-4000. The inheritance mode can be autosomal dominant inheritance, autosomal recessive inheritance, X-linked dominant inheritance and X-linked recessive inheritance. The typical clinical manifestations are progressive, length-dependent weakness and atrophy of the distal limbs, accompanied by hypoesthesia and weakened tendon reflexes. But the generalized peroneal muscular atrophy also includes hereditary motor neuropathy and hereditary sensory neuropathy, which represents the evolution of a disease spectrum from motor nerve to motor sensory nerve and sensory nerve, collectively referred to as CMT and its related diseases. CMT can be divided into demyelinating type (CMT1), axonal type (CMT2) and intermediate type. There are more than 80 kinds of genes discovered so far, and genetic diagnosis plays a vital role in the treatment of peroneal muscular atrophy and genetic counseling.

[Purpose]

1. 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;

2. Discover new mutations and newly published types of known genes, and perform gene-phenotype correlation analysis

3. Perform whole-exome sequencing on some families that have not been clearly diagnosed to find new pathogenic genes or related genes of CMT, so as to enrich the genetic and clinical types of CMT.

[Design] This is a cross-sectional study. All patients will be collected for clinical and electrophysiological data. Patients and families who meet the enrollment criteria will be tested for blood tests. The inspection strategies are as follows: (1) Use MLPA method for PMP22 gene Duplicate or deletion mutation check (charge); (2)) Use high-throughput sequencing method to detect the currently known gene panel (gene panel) (charge); (3) Check the process (1) and (2) Some patients and families whose disease-causing genes have not been detected by the inspection methods are tested by whole-exome sequencing (scientific research, free of charge).

Conditions

Peroneal Muscular Atrophy

Study Design

• Observational Model Type: CASE_CONTROL
• Study Time Perspective: CROSS_SECTIONAL

Study Groups

Peroneal muscular atrophy

Peroneal muscular atrophy (Charcot-Marie-Tooth, CMT) is a group of genetic diseases that invade the peripheral nervous system with very high genetic heterogeneity. It was proposed by Charcot, Marie of France and Tooth of the United Kingdom in 1886. The prevalence is about 1/2500-4000. It is the most common hereditary peripheral neuropathy. Inheritance includes all forms of Mendelian inheritance. The typical clinical manifestations are progressive, length-dependent limb weakness and atrophy, accompanied by hypoesthesia and weakened tendon reflexes.

basic information

Intervention Type: OTHER

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

venous blood test

Intervention Type: OTHER

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.

Interventions

basic information

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

Intervention Type: 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.

Intervention Type: OTHER

Eligibility Criteria

Inclusion Criteria

• Meet the clinical diagnostic criteria of peroneal muscular atrophy; Sign informed consent

Exclusion Criteria

• Those who have recently received blood transfusion treatment will not be able to collect blood samples.

• Eligible Sex: ALL
• Accepts Healthy Volunteers: No

Sponsors

Peking University Third Hospital

OTHER

Sponsor Role: lead

Responsible Party

Responsibility Role: SPONSOR

Principal Investigators

Xiaoxuan Liu

Role: PRINCIPAL_INVESTIGATOR

Peking University Third Hospital

Locations

Peking University Third Hospital

Beijing, , China

Site Status: RECRUITING

Countries

China

Central Contacts

Xiaoxuan Liu

Role: CONTACT

zhangys0317@126.com

13910982101

Xiaoxuan Liu

Role: CONTACT

zhangys0317@126.com

Facility Contacts

Xiaoxuan Liu

Role: primary

13910982101

Other Identifiers

M2018206

Identifier Type: -

Identifier Source: org_study_id