Dysferlinopathy Protein in Peripheral Blood Monocytes. (NCT06507215) | Clinical Trial Compass
CompletedNot Applicable
Dysferlinopathy Protein in Peripheral Blood Monocytes.
Spain149 participantsStarted 2012-02-01
Plain-language 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.
Who can participate
Age range
18 Years
Sex
ALL
See this in plain English?
AI-rewrites the medical criteria so a patient or caregiver can understand them. Always confirm with the trial site.
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.
Questions worth asking your doctor
Bring these to your next appointment. They're a starting point for a shared conversation — not a sign you qualify or a recommendation to enrol.
1Based on my diagnosis and history, is this trial worth exploring for me — or is there a standard treatment we should try first?
2What does this trial's phase tell us about how much is already known about its safety and benefit?
3What would taking part actually involve for me — visits, tests, time, and travel?
4What are the known and possible risks or side effects I should weigh, and how would they be monitored?
5If this trial isn't the right fit, what other options or trials would you suggest I look into?
Generated to help you prepare — always confirm anything about your own eligibility and care with the study team and your doctor.
Questions for the trial coordinator
The trial coordinator is the person who runs the study day to day. These cover the practical side — logistics, costs, and what taking part would actually mean for your life. The study team confirms whether you meet the criteria; these are questions to ask, not a sign you qualify.
1What does taking part actually involve week to week — how many visits, where, and how long does each one take?
2What costs are covered by the study, and what might I have to pay for myself, including travel, parking, or time off work?
3What happens during screening, and what happens if the study team confirms I don't meet the criteria after those tests?
4Who pays for the scans, blood work, and other tests the trial requires — the study, my insurance, or me?
5How will being in the trial affect my regular care, and will my own doctor stay informed and involved?
6Can I leave the trial at any point if I change my mind, and what would happen to my care if I do?
A starting point for the conversation — always confirm anything about your own eligibility, costs, and care with the study team and your doctor.
What they're measuring
1
Dysferlin Expression Levels by age and gender
Timeframe: 1 month
Trial details
NCT IDNCT06507215
SponsorFundació Institut de Recerca de l'Hospital de la Santa Creu i Sant Pau