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.
Trial Snapshot
- Phase
- Not Applicable
- Status
- Completed
- Sponsor
- Enrollment
- 149
- Locations
- 1
- Primary Endpoint
- Dysferlin Expression Levels by age and gender
Study Overview
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.
Study Design
- Study Type
- Observational
- Observational Model
- Other
- Time Perspective
- Prospective
Eligibility Criteria
- Ages
- 18 Years to — (Adult, Older Adult)
- Sex
- All
- Accepts Healthy Volunteers
- Yes
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 D
- •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.
Outcomes
Primary Outcomes
Dysferlin Expression Levels by age and gender
Time Frame: 1 month
Dysferlin expresion lels in monocytes by western blotting
Secondary Outcomes
- Identification of Carries by Protein Level(1 month)
- Percentage of Predicted Carriers Showing Specific Genetic Mutations(1 month)
- Percentage of DNA Methylation in Target Gene(1 month)