Ignite Creation Date:
2024-10-26 @ 3:35 PM
Last Modification Date:
2024-10-26 @ 3:35 PM
Study NCT ID:
NCT06507215
Status:
COMPLETED
Last Update Posted:
None
First Post:
2024-07-05
Brief Title:
Dysferlinopathy Protein in Peripheral Blood Monocytes
Sponsor:
None
Organization:
None
Study Overview
Official Title:
Cross-sectional Study to Evaluate the Frequency of Dysferlinopathy Carriers in the Caucasian Population Using a Test for Detecting the Dysferlin Protein in Peripheral Blood Monocytes
Status:
COMPLETED
Status Verified Date:
2024-07
Last Known Status:
None
Delayed Posting:
No
If Stopped, Why?:
Not Stopped
Has Expanded Access:
No
If Expanded Access, NCT#:
N/A
Has Expanded Access, NCT# Status:
N/A
Acronym:
None
Brief Summary:
The objective of the study is to answer the following important questions Deficiency of the dysferlin protein is the cause of a very rare limb-girdle muscular dystrophy LGMD-2B that leads to significant disability This disease is caused by mutations in the dysferlin gene It is a recessive inherited disease meaning that both copies of the gene must have mutations for the disease to develop This study aims to analyze the frequency of carriers of a mutation in the DYSF gene in the Caucasian population To achieve this The investigator analyzed the blood of 100 healthy volunteers from their local area quantifying the dysferlin protein in peripheral blood monocytes
Detailed Description:
None
Study Oversight
Has Oversight DMC:
None
Is a FDA Regulated Drug?:
None
Is a FDA Regulated Device?:
None
Is an Unapproved Device?:
None
Is a PPSD?:
None
Is a US Export?:
None
Is an FDA AA801 Violation?:
None