Status:
COMPLETED
Dysferlinopathy Protein in Peripheral Blood Monocytes.
Lead Sponsor:
Fundació Institut de Recerca de l'Hospital de la Santa Creu i Sant Pau
Conditions:
Muscular Dystrophies
Limb-Girdle Muscular Dystrophy Type 2B
Eligibility:
All Genders
18+ years
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 signif...
Eligibility Criteria
Inclusion
- 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
- 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.
Key Trial Info
Start Date :
February 1 2012
Trial Type :
OBSERVATIONAL
Allocation :
ACTUAL
End Date :
July 17 2017
Estimated Enrollment :
149 Patients enrolled
Trial Details
Trial ID
NCT06507215
Start Date
February 1 2012
End Date
July 17 2017
Last Update
July 18 2024
Active Locations (1)
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1
Eduard Gallardo Vigo
Barcelona, Catalonia, Spain, 08041