Ignite Creation Date:
2024-05-06 @ 8:07 PM
Last Modification Date:
2024-10-26 @ 3:20 PM
Study NCT ID:
NCT06259071
Status:
RECRUITING
Last Update Posted:
2024-02-14
First Post:
2024-02-06
Brief Title:
MuSK Myasthenia 1000 Study
Sponsor:
Myasthenia Gravis Rare Disease Network
Organization:
Myasthenia Gravis Rare Disease Network
Study Overview
Official Title:
Genome Wide Association Study of Patients With Muscle Specific Kinase Myasthenia Gravis
Status:
RECRUITING
Status Verified Date:
2024-02
Last Known Status:
None
Delayed Posting:
No
If Stopped, Why?:
Not Stopped
Has Expanded Access:
False
If Expanded Access, NCT#:
N/A
Has Expanded Access, NCT# Status:
N/A
Acronym:
MuSK 1000
Brief Summary:
The MuSK myasthenia gravis 1000 study seeks to collect saliva samples from 1000 subjects with laboratory confirmed diagnosis of MuSK myasthenia to identify genetic variations associated with MuSK MG The data collected may be used by researchers to gain a better understanding of the cause of MuSK MG and to identify biomarkers and targeted therapy for MuSK MG
Detailed Description:
Myasthenia gravis is a rare neuromuscular disease of the muscle and nerves autoimmune disease characterized by weakness of the muscles MG has a prevalence of approximately 14-40 per 100000 people in the United States There is no cure for MG however understanding the disease is crucial to pave the way for development of new therapies Important to note the most common subtype of MG associated with Acetylcholine receptor antibodies AChR are found in more than 80 of patients with generalized myasthenia gravis whereas muscle-specific kinase MuSK antibodies are found in only 8 of MG patients These are found in patients with the AChR antibodies Since the discovery of MuSK antibodies in patients much has been learned It has become clear that MuSK antibody MG differs in many ways from AChR antibody MG There is some information that specific genetic factors play a role in development of MuSK MG
Our objective is to collect saliva samples from 1000 subjects with laboratory confirmed diagnosis of MuSK myasthenia These saliva samples will be then sent to the laboratory of Bryan Traynor who directs the Neurogenetics Laboratory at NIH Dr Traynor will conduct a genome-wide association study GWAS This study will provide important information of genetic factors leading to MuSK MG
GWAS also known as genome-wide association study is a study performed to identify genetic characteristics associated with a particular disease GWAS is currently used across various disciplines in medicine to better understand complex conditions where genetic risk factors contribute to the development of diseases
Presently this study has not been done in patients with MuSK MG Researchers can use information from this study to develop quality treatment and ultimately move toward targeted therapy approach for patients We hope to find unique results and further enhance myasthenia research
Our objective is to collect saliva samples from 1000 subjects with laboratory confirmed diagnosis of MuSK myasthenia These saliva samples will be then sent to the laboratory of Bryan Traynor who directs the Neurogenetics Laboratory at NIH Dr Traynor will conduct a genome-wide association study GWAS This study will provide important information of genetic factors leading to MuSK MG
GWAS also known as genome-wide association study is a study performed to identify genetic characteristics associated with a particular disease GWAS is currently used across various disciplines in medicine to better understand complex conditions where genetic risk factors contribute to the development of diseases
Presently this study has not been done in patients with MuSK MG Researchers can use information from this study to develop quality treatment and ultimately move toward targeted therapy approach for patients We hope to find unique results and further enhance myasthenia research
Study Oversight
Has Oversight DMC:
None
Is a FDA Regulated Drug?:
False
Is a FDA Regulated Device?:
False
Is an Unapproved Device?:
None
Is a PPSD?:
None
Is a US Export?:
None
Is an FDA AA801 Violation?:
None