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Dysferlinopathy Protein in Peripheral Blood Monocytes.

NCT06507215 · Status: COMPLETED · Type: OBSERVATIONAL · Enrollment: 149

Last updated 2024-07-18

No results posted yet for this study

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

  • Muscular Dystrophies
  • Limb-Girdle Muscular Dystrophy Type 2B
  • Miyoshi Myopathy
  • Distal Myopathy With Anterior Tibial Onset

Interventions

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.

Sponsors & Collaborators

  • Fundació Institut de Recerca de l'Hospital de la Santa Creu i Sant Pau

    lead OTHER

Eligibility

Min Age
18 Years
Sex
ALL
Healthy Volunteers
Yes

Timeline & Regulatory

Start
2012-02-01
Primary Completion
2012-02-27
Completion
2017-07-17

Countries

  • Spain

Study Locations

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Read the full study record

This page highlights key information. For complete eligibility criteria, study locations, investigator contacts, and the full protocol, visit the original record on ClinicalTrials.gov.

View NCT06507215 on ClinicalTrials.gov