Trials / Completed

CompletedNCT06507215

Dysferlinopathy Protein in Peripheral Blood Monocytes.

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
Phase: —
Study type: Observational
Enrollment: 149 (actual)

Sponsor: Fundació Institut de Recerca de l'Hospital de la Santa Creu i Sant Pau · Academic / Other
Sex: All
Age: 18 Years
Healthy volunteers: Accepted

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.

Conditions

Interventions

Type	Name	Description
DIAGNOSTIC_TEST	Protein analysis	The investigator enrolled 149 healthy volunteers and collected peripheral blood samples for protein analysis. While 18 of these individuals with protein levels in the range of 40%-64% were predicted to be carriers by the monocyte assay, subsequent DYSF sequencing analysis in 14 of 18 detected missense variants in only four. Analysis of DNA methylation patterns at the DYSF locus showed no changes in methylation levels at CpG islands and shores between samples.

Timeline

Start date: 2012-02-01
Primary completion: 2012-02-27
Completion: 2017-07-17
First posted: 2024-07-18
Last updated: 2024-07-18

Locations

1 site across 1 country: Spain

Source: ClinicalTrials.gov record NCT06507215. Inclusion in this directory is not an endorsement.