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Clinical Trial Details — Status: Recruiting

Administrative data

NCT number NCT04967716
Other study ID # M2018206
Secondary ID
Status Recruiting
Phase
First received
Last updated
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
Health authority
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.

Study Design


Related Conditions & MeSH terms


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
See also
  Status Clinical Trial Phase
Recruiting NCT02532244 - Genetics of Pediatric-Onset Motor Neuron and Neuromuscular Diseases