Dysferlinopathy Protein in Peripheral Blood Monocytes.

Completed

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

• Registration Number: NCT06507215
• Lead Sponsor: Fundació Institut de Recerca de l'Hospital de la Santa Creu i Sant Pau

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

Not available

Study Timeline

• Study Start: 2012-02-01
• Primary Completion: 2012-02-27
• Study Completion: 2017-07-17
• Status Verified: 2024-07
• Study First Submitted: 2024-07-05
• Study First Submitted QC: 2024-07-11
• Last Update Submitted: 2024-07-11
• Study First Posted: 2024-07-18
• Last Update Posted: 2024-07-18

Recruitment & Eligibility

• Status: COMPLETED
• Sex: All
• Target Recruitment: 149

Inclusion Criteria

• Individuals diagnosed with dysferlinopathies.
• Carriers of a single mutation in the DYSF gene.
• Participants who are willing to undergo treatment with oral vitamin D3.
• Subjects who can provide informed consent for participation in the study.
• Controls and carriers willing to participate in in vitro studies using HL60 cells, monocytes, and myotubes.

Exclusion Criteria

• Individuals with conditions or medications that could interfere with the study outcomes of dysferlin expression.
• Participants who are unwilling or unable to adhere to the study protocol for the duration of the study period.
• Pregnant or breastfeeding women.
• Individuals with known allergies or adverse reactions to vitamin D3 supplements.
• Subjects with severe concurrent illnesses that may impact the study's objectives or their ability to participate effectively.

Study & Design

• Study Type: OBSERVATIONAL
• Study Design: Not specified

Primary Outcome Measures

Name	Time	Method
Dysferlin Expression Levels by age and gender	1 month	Dysferlin expresion lels in monocytes by western blotting

Secondary Outcome Measures

Name	Time	Method
Identification of Carries by Protein Level	1 month	Identification of Carries by Protein Level
Percentage of Predicted Carriers Showing Specific Genetic Mutations	1 month	Mutation Analysis of Predicted Carriers
Percentage of DNA Methylation in Target Gene	1 month	DNA Methylation status of the DYSF locus in order to determine wether the reduced DYSF levels in carrier and disease range had an underlying epigenetic mechanism.

Trial Locations

Locations (1)

Eduard Gallardo Vigo; 🇪🇸 Barcelona, Cataluña, Spain