Genetics of Charcot-Marie-Tooth Dystrophy and Related Diseases

Peroneal Muscular Atrophy Clinical Trial

Official title:

Genetics of Charcot-Marie-Tooth Dystrophy and Related Diseases

Clinical Trial Details — Status: Recruiting

Administrative data

• NCT number: NCT04967716
• Other study ID #: M2018206
• Status: Recruiting
• Start date: November 1, 2018
• Est. completion date: December 31, 2021

Study information

• Verified date: June 2021
• Source: Peking University Third Hospital
• Contact: Xiaoxuan Liu
• Phone: 13910982101
• Email: zhangys0317[@]126.com
• Is FDA regulated: No
• Study type: Observational

Clinical Trial 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.

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).

Recruitment information / eligibility

• Status: Recruiting
• Enrollment: 200
• Est. completion date: December 31, 2021
• Est. primary completion date: September 1, 2021
• Accepts healthy volunteers: No
• Gender: All
• Age group: N/A and older

Eligibility

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.

Related Conditions & MeSH terms

• Charcot-Marie-Tooth Disease
• Hereditary Sensory and Motor Neuropathy
• Muscular Atrophy
• Nerve Compression Syndromes
• Peroneal Muscular Atrophy

Intervention

Other:
• basic information
Demographic data registration, medical history inquiry, physical examination; electromyography, nerve conduction velocity examination; CMT nerve function score;
• 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.

Locations

Country	Name	City	State
China	Peking University Third Hospital	Beijing

Sponsors (1)

Lead Sponsor	Collaborator
Peking University Third Hospital

Country where clinical trial is conducted

China, 

Outcome

Type	Measure	Description	Time frame	Safety issue
Primary	allele frequency of CMT genes	Observed values of allele frequency of CMT genes	1 month
Primary	genotype frequency of CMT genes	Observed values genotype frequency of CMT genes	1 month