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).