Genetics of Charcot-Marie-Tooth Dystrophy and Related Diseases

NCT04967716 | Unknown DMC

• 1 other identifier: M2018206
• Study Type: observational
• Target: 200
• Locations: 1 country
• Sites: 1

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.

Conditions

Peroneal Muscular Atrophy

Outcome Measures

Primary Outcomes (2)

• allele frequency of CMT genes

  Observed values of allele frequency of CMT genes

  1 month

• genotype frequency of CMT genes

  Observed values genotype frequency of CMT genes

  1 month

Study Arms (1)

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.

Other: basic information; Other: venous blood test

Interventions

basic information OTHER

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

Peroneal muscular atrophy

venous blood test 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.

Peroneal muscular atrophy

Eligibility Criteria

• Sex: all
• Healthy Volunteers: No
• Age Groups: Child (0-17), Adult (18-64), Older Adult (65+)
• Sampling Method: Probability Sample

Study Population

Peroneal muscular atrophy is a group of genetic diseases with very high genetic heterogeneity that violates the peripheral nervous system. The typical clinical manifestations are progressive, length-dependent limb weakness and atrophy, accompanied by hypoesthesia and weakened tendon reflexes.

You may qualify if:

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

You may not qualify if:

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

Sponsors & Collaborators

• Peking University Third Hospital: lead

Study Sites (1)

Peking University Third Hospital

Beijing, China

RECRUITING

MeSH Terms

Conditions

Charcot-Marie-Tooth Disease

Condition Hierarchy (Ancestors)

Hereditary Sensory and Motor Neuropathy; Nervous System Malformations; Nervous System Diseases; Heredodegenerative Disorders, Nervous System; Neurodegenerative Diseases; Polyneuropathies; Peripheral Nervous System Diseases; Neuromuscular Diseases; Congenital Abnormalities; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Genetic Diseases, Inborn

Study Officials

• Xiaoxuan Liu

  Peking University Third Hospital

  PRINCIPAL INVESTIGATOR

Central Study Contacts

Xiaoxuan Liu

CONTACT

13910982101; zhangys0317@126.com

Xiaoxuan Liu

CONTACT

zhangys0317@126.com

Study Design

• Study Type: observational
• Observational Model: CASE CONTROL
• Time Perspective: CROSS SECTIONAL
• Sponsor Type: OTHER
• Responsible Party: SPONSOR

Study Record Dates

• First Submitted: June 27, 2021
• First Posted: July 19, 2021
• Study Start: November 1, 2018
• Primary Completion: September 1, 2021
• Study Completion: December 31, 2021
• Last Updated: July 19, 2021

Record last verified: 2021-06

Data Sharing

• IPD Sharing: Will not share

Locations

CN (1)