Peroneal Muscular AtrophyNCT04967716
Genetics of Charcot-Marie-Tooth Dystrophy and Related Diseases
An observational study of Peroneal Muscular Atrophy, run by Peking University Third Hospital at 1 site in China.
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. Read more about this study
- Who is it for?
- Any age
- Conditions the study is for
- Peroneal Muscular Atrophy
- What is being tested?
- basic information and venous blood test
- How many people
- 200 participants
- Where
- 1 siteChina
- Study dates
- 1 Nov 2018to 31 Dec 2021
- Phase
- Observational
- Are there results?
- None posted in the registry
Key requirements
Who can take part, as listed by the sponsor. Only the study team can confirm whether you are eligible, so take this list to your doctor.
- Ages Any age
- All sexes
- No healthy volunteers
- Child, Adult, Older adult
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.
Who may be able to join
- Meet the clinical diagnostic criteria of peroneal muscular atrophy; Sign informed consent
Who cannot join
- Those who have recently received blood transfusion treatment will not be able to collect blood samples.
Trial locations and contacts
1 site in 1 country.
Xiaoxuan Liu contact
China1 site, 1 recruiting
- Recruiting
Peking University Third Hospital
Beijing
Xiaoxuan Liu, 13910982101
About this study
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.
Read the 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]
- 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;
- Discover new mutations and newly published types of known genes, and perform gene-phenotype correlation analysis
- 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
- Being tested
- basic information, venous blood test
- Medical subject headings
- Charcot-Marie-Tooth Disease
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
basic informationOther
Demographic data registration, medical history inquiry, physical examination; electromyography, nerve conduction velocity examination; CMT nerve function score;
venous blood testOther
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.
| Study group | Role | What they receive |
|---|---|---|
| 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. Receives: Other: basic information; Other: venous blood test |
What is being measured
The primary outcome is the main question the study is designed to answer.
allele frequency of CMT genes
Observed values of allele frequency of CMT genes
Measured: 1 month
genotype frequency of CMT genes
Observed values genotype frequency of CMT genes
Measured: 1 month
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted19 Jul 2021
- Study start1 Nov 2018
- Primary completion1 Sep 2021 (estimated)
- Study completion31 Dec 2021 (estimated)
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Other trials for Peroneal Muscular AtrophyStudies of the same condition, open and under way.
- More trials run by Peking University Third HospitalThe sponsor's other registered studies.
- What the trial phases meanHow a treatment moves from first tests in people to approval.
More details
For doctors and researchers: how the study is designed, who runs it, and its registry IDs.
Study design
- Study type
- Observational
- Observational model
- Case-control
- Time perspective
- Cross-sectional
- Enrolment
- 200 participants (estimated)
Sponsor and investigators
- Lead sponsor
- Peking University Third Hospital
- Sponsor type
- University, hospital or other
- Responsible party
- Sponsor
- Investigators
- Xiaoxuan Liu, Principal investigator, Peking University Third Hospital
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT04967716
- Sponsor's protocol ID
- M2018206
- Status last verified
- Jun 2021
- First submitted
- 27 Jun 2021
- Last updated
- 19 Jul 2021
- Results posted
- No
- Data monitoring committee
- Yes
- FDA-regulated drug
- No
- FDA-regulated device
- No
- Individual data sharing
- No
Study at a glance
From the registry record, last updated by the sponsor on 19 Jul 2021. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Genetics of Charcot-Marie-Tooth Dystrophy and Related Diseases
- ClinicalTrials.gov ID
- NCT04967716
- Acronym / sponsor ID
- M2018206
- Conditions
- Peroneal Muscular Atrophy
- Study type
- Observational
- Recruitment status
- Unknown status
- Enrolment
- 200 participants (estimated)
- Lead sponsor
- Peking University Third HospitalUniversity, hospital or other
- Study start
- 1 Nov 2018 (actual)
- Primary completion
- 1 Sep 2021 (estimated)
- Study completion
- 31 Dec 2021 (estimated)
- First posted
- 19 Jul 2021 (actual)
- Results
- Not posted in the source record
Clinical summary
The research question as the sponsor registered it. This describes what the study plans to test, not what it found.
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]
- 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;
- Discover new mutations and newly published types of known genes, and perform gene-phenotype correlation analysis
- 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).
Study design
- Observational model
- Case-control
- Time perspective
- Cross-sectional
- Number of arms
- 1
| Arm | Type | Receives |
|---|---|---|
| Peroneal muscular atrophy | – | Other: basic information, Other: venous blood testPeroneal 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. |
Who may qualify
- Sex
- All
- Healthy volunteers
- Not accepted
- Age groups
- Child, Adult, Older adult
- 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.
Key inclusion criteria (1 listed)
- Meet the clinical diagnostic criteria of peroneal muscular atrophy; Sign informed consent
Key exclusion criteria (1 listed)
- Those who have recently received blood transfusion treatment will not be able to collect blood samples.
Eligibility is decided by the study team after screening; this overview does not establish that a patient qualifies. Full inclusion and exclusion criteria.
Interventions
| Intervention | Type | Arms |
|---|---|---|
| basic informationDemographic data registration, medical history inquiry, physical examination; electromyography, nerve conduction velocity examination; CMT nerve function score; | Other | Peroneal muscular atrophy |
| venous blood testThe 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. | Other | Peroneal muscular atrophy |
Primary outcome
allele frequency of CMT genes
Time frame: 1 month
Observed values of allele frequency of CMT genes
genotype frequency of CMT genes
Time frame: 1 month
Observed values genotype frequency of CMT genes
Results and safety
Results are not available in the source record.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 19 Jul 2021.
- Individual participant dataSharing planned: No
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Referral and contact
AzTrials does not enrol participants or take referrals. Contact the study team or a site listed below; they decide who can take part. This study is not recruiting at the moment.
Xiaoxuan Liu contact
Xiaoxuan Liu principal investigator
Peking University Third Hospital
1 site in 1 country: see every site and its status.
Questions about this trial
What is this clinical trial studying?
An observational study of Peroneal Muscular Atrophy, run by Peking University Third Hospital at 1 site in China.
The full registered description is in the About this study section and the official record.
Who may be eligible to take part?
The sponsor lists 1 inclusion and 1 exclusion criteria. Eligibility is decided by the study team after screening, so read the full criteria and contact a listed site.
Is this clinical trial currently recruiting?
The record says: status not confirmed, as of the sponsor's last update on 19 Jul 2021. Status can change between updates, so confirm with the study contact before making plans.
Where is the study taking place?
The record lists 1 site in China. Whether a site is taking part right now should be confirmed with that site. See every site.
What are the possible benefits and risks?
They depend on the study and the treatment, and no study can promise a benefit. The study team explains the known risks during informed consent, before anyone joins; the record itself does not list them.
Are results available for this study?
Results are not available in the source record.
How can a doctor refer a patient or contact the research team?
Contact Xiaoxuan Liu (13910982101, zhangys0317@126.com), or a site near the patient. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
allele frequency of CMT genes (time frame: 1 month). The study lists 2 primary outcomes in all. It is what the study was designed to measure, not a finding.
Where can I read the original study information?
Does a listing mean the treatment is approved or proven to work?
No. A listing means the study is registered. It does not show that the treatment is safe, works, or is approved by a regulator.
How often is this information updated?
AzTrials copies changed records from ClinicalTrials.gov every night and reloads the whole registry every week. The sponsor last updated this record on 19 Jul 2021.