- ICH GCP
- US Clinical Trials Registry
- Klinisk utprøving NCT04967716
Genetics of Charcot-Marie-Tooth Dystrophy and Related Diseases
Studieoversikt
Status
Forhold
Intervensjon / Behandling
Detaljert beskrivelse
[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).
Studietype
Registrering (Forventet)
Kontakter og plasseringer
Studiekontakt
- Navn: Xiaoxuan Liu
- Telefonnummer: 13910982101
- E-post: zhangys0317@126.com
Studer Kontakt Backup
- Navn: Xiaoxuan Liu
- E-post: zhangys0317@126.com
Studiesteder
-
-
-
Beijing, Kina
- Rekruttering
- Peking University Third Hospital
-
-
Deltakelseskriterier
Kvalifikasjonskriterier
Alder som er kvalifisert for studier
- Barn
- Voksen
- Eldre voksen
Tar imot friske frivillige
Kjønn som er kvalifisert for studier
Prøvetakingsmetode
Studiepopulasjon
Beskrivelse
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.
Studieplan
Hvordan er studiet utformet?
Designdetaljer
Kohorter og intervensjoner
Gruppe / Kohort |
Intervensjon / Behandling |
---|---|
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.
|
Demographic data registration, medical history inquiry, physical examination; electromyography, nerve conduction velocity examination; CMT nerve function score;
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.
|
Hva måler studien?
Primære resultatmål
Resultatmål |
Tiltaksbeskrivelse |
Tidsramme |
---|---|---|
allele frequency of CMT genes
Tidsramme: 1 month
|
Observed values of allele frequency of CMT genes
|
1 month
|
genotype frequency of CMT genes
Tidsramme: 1 month
|
Observed values genotype frequency of CMT genes
|
1 month
|
Samarbeidspartnere og etterforskere
Sponsor
Etterforskere
- Hovedetterforsker: Xiaoxuan Liu, Peking University Third Hospital
Studierekorddatoer
Studer hoveddatoer
Studiestart (Faktiske)
Primær fullføring (Forventet)
Studiet fullført (Forventet)
Datoer for studieregistrering
Først innsendt
Først innsendt som oppfylte QC-kriteriene
Først lagt ut (Faktiske)
Oppdateringer av studieposter
Sist oppdatering lagt ut (Faktiske)
Siste oppdatering sendt inn som oppfylte QC-kriteriene
Sist bekreftet
Mer informasjon
Begreper knyttet til denne studien
Ytterligere relevante MeSH-vilkår
- Sykdommer i nervesystemet
- Nevrologiske manifestasjoner
- Medfødte abnormiteter
- Genetiske sykdommer, medfødte
- Nevromuskulære sykdommer
- Nevrodegenerative sykdommer
- Sykdommer i det perifere nervesystemet
- Nevromuskulære manifestasjoner
- Patologiske tilstander, anatomiske
- Heredodegenerative lidelser, nervesystemet
- Atrofi
- Misdannelser i nervesystemet
- Polynevropatier
- Muskelatrofi
- Nervekompresjonssyndromer
- Charcot-Marie-tann sykdom
- Arvelig sensorisk og motorisk nevropati
Andre studie-ID-numre
- M2018206
Plan for individuelle deltakerdata (IPD)
Planlegger du å dele individuelle deltakerdata (IPD)?
Legemiddel- og utstyrsinformasjon, studiedokumenter
Studerer et amerikansk FDA-regulert medikamentprodukt
Studerer et amerikansk FDA-regulert enhetsprodukt
Denne informasjonen ble hentet direkte fra nettstedet clinicaltrials.gov uten noen endringer. Hvis du har noen forespørsler om å endre, fjerne eller oppdatere studiedetaljene dine, vennligst kontakt register@clinicaltrials.gov. Så snart en endring er implementert på clinicaltrials.gov, vil denne også bli oppdatert automatisk på nettstedet vårt. .
Kliniske studier på Peroneal muskelatrofi
-
rania sanadFullførtVanlig peroneal nevropati
-
Medical University InnsbruckFullførtIdrettsskade | Traumatisk skade | Peroneal nerveskade
-
Basque Health ServiceFullført
-
KU LeuvenITI FoundationRekruttering
-
Rush University Medical CenterTilbaketrukketPeroneal parese (fotfall)Forente stater
-
University Hospital, GenevaAktiv, ikke rekrutterende
-
Peking University Third HospitalFullførtTilbakevendende peroneal seneluksasjon
-
University of FlorenceAktiv, ikke rekrutterendeEdentulous Alveolar Ridge Atrophy | Mykvevsforsterkning ved tannimplantaterItalia
-
Universitaire Ziekenhuizen KU LeuvenBelgian Health Care Knowledge Centre (KCE)RekrutteringPeroneal nerveinnfangingBelgia, Nederland
-
Studio Odontoiatrico Associato Dr. P. Cicchese...FullførtEdentulous Alveolar Ridge Atrophy | Edentuous; Alveolær prosess, atrofiItalia
Kliniske studier på basic information
-
Centre Hospitalier Universitaire, AmiensFullførtCerebral vaskulær lidelseFrankrike
-
Logan College of ChiropracticFullførtSpinal manipulasjonForente stater
-
Brigham and Women's HospitalAgency for Healthcare Research and Quality (AHRQ)RekrutteringGastrointestinale sykdommer | Hjertefeil | Infeksjoner | Urologiske sykdommer | Sjokk | Hematologiske sykdommer | Kritisk sykdom | Revmatiske sykdommer | Astma | Nyresvikt | Nevrologisk lidelse | KOLS-forverring | Hjertehendelse | Onkologisk problem | Arytmi | NyresykdomForente stater
-
Logan College of ChiropracticUkjent
-
Logan College of ChiropracticFullførtBekkenjustering (LBT)
-
Leibniz-Institut für Resilienzforschung (LIR) gGmbHEuropean Regional Development Fund; Ministry of Science and Health of Rhineland-Palatinate... og andre samarbeidspartnereRekrutteringMotstandsdyktighetTyskland
-
Tetec AGFullførtIntervertebral skiveforskyvning | Intervertebral skivedegenerasjonTyskland, Østerrike
-
Brigham and Women's HospitalThrasher Research Fund; Ministry of Health, Rwanda; Partners in HealthUkjent
-
Flint Rehabilitation Devices, LLCUniversity of California, Irvine; Rancho Research Institute, Inc.Fullført
-
Fox Chase Cancer CenterNational Cancer Institute (NCI)FullførtBrystkreft | Tykktarmskreft | Prostatakreft | ThoraxkreftForente stater