Muscular DystrophiesNCT06507215
Dysferlinopathy Protein in Peripheral Blood Monocytes.
An observational study of Muscular Dystrophies and Limb-Girdle Muscular Dystrophy Type 2B, run by Fundació Institut de Recerca de l'Hospital de la Santa Creu i Sant Pau at 1 site in Spain.
Trial 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. Read more about this study
- Who is it for?
- Ages 18 years and olderHealthy volunteers can take part
- Conditions the study is for
- Muscular Dystrophies, Limb-Girdle Muscular Dystrophy Type 2B, Miyoshi Myopathy
- What is being tested?
- Protein analysis
- How many people
- 149 participants
- Where
- 1 siteSpain
- Study dates
- 1 Feb 2012to 17 Jul 2017
- Phase
- Observational
- Are there results?
- None posted in the registry
Key requirements
Who can take part, as listed by the sponsor. Only the study team can confirm whether you are eligible, so take this list to your doctor.
- Ages 18 years and older
- All sexes
- Healthy volunteers accepted
- Adult, Older adult
Study population: The study focuses on individuals with dysferlinopathies, a heterogeneous group of autosomal recessive muscular dystrophies caused by mutations in the DYSF gene. It examines the effect of vitamin D3 treatment on dysferlin expression in vitro using HL60 cells, monocytes, and myotubes from controls and carriers of a single DYSF mutation. Additionally, an observational study with oral vitamin D3 in a cohort of 21 carriers demonstrates a significant increase in dysferlin expression in treated monocytes compared to untreated carriers. These findings suggest significant therapeutic implications, emphasizing the potential of combining molecular strategies with vitamin D3 supplementation to elevate dysferlin expression to non-pathological levels.
Who may be able to join
- 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.
Who cannot join
- 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.
Trial locations and contacts
1 site in 1 country.
About this study
Official title: 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.
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
- Being tested
- Protein analysis
- Keywords
- muscular dystrophy, dysferlin, Limb-Girdle Muscular Dystrophy Type 2B, Miyoshi Myopathy, Distal Myopathy with Anterior Tibial Onset
- Medical subject headings
- Muscular Dystrophies, Limb-girdle muscular dystrophy, type 2B, Miyoshi myopathy, Myopathy, Distal, with Anterior Tibial Onset
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
Protein analysisDiagnostic test
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.
What is being measured
The primary outcome is the main question the study is designed to answer.
Dysferlin Expression Levels by age and gender
Dysferlin expresion lels in monocytes by western blotting
Measured: 1 month
Secondary outcomes (3)
Identification of Carries by Protein Level
Identification of Carries by Protein Level
Measured: 1 month
Percentage of Predicted Carriers Showing Specific Genetic Mutations
Mutation Analysis of Predicted Carriers
Measured: 1 month
Percentage of DNA Methylation in Target Gene
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.
Measured: 1 month
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted18 Jul 2024
- Study start1 Feb 2012
- Primary completion27 Feb 2012
- Study completion17 Jul 2017
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Other trials for Muscular DystrophiesStudies of the same condition, open and under way.
- More trials run by Fundació Institut de Recerca de l'Hospital de la Santa Creu i Sant PauThe sponsor's other registered studies.
- What the trial phases meanHow a treatment moves from first tests in people to approval.
More details
For doctors and researchers: how the study is designed, who runs it, and its registry IDs.
Study design
- Study type
- Observational
- Observational model
- Other
- Time perspective
- Prospective
- Enrolment
- 149 participants (actual)
Sponsor and investigators
- Sponsor type
- University, hospital or other
- Responsible party
- Sponsor
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT06507215
- Sponsor's protocol ID
- IIBSP-MON-2011-157
- Status last verified
- Jul 2024
- First submitted
- 5 Jul 2024
- Last updated
- 18 Jul 2024
- Results posted
- No
- FDA-regulated drug
- No
- FDA-regulated device
- No
Study at a glance
From the registry record, last updated by the sponsor on 18 Jul 2024. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- 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.
- ClinicalTrials.gov ID
- NCT06507215
- Acronym / sponsor ID
- IIBSP-MON-2011-157
- Conditions
- Muscular Dystrophies, Limb-Girdle Muscular Dystrophy Type 2B, Miyoshi Myopathy, Distal Myopathy With Anterior Tibial Onset
- Keywords
- muscular dystrophy, dysferlin, Limb-Girdle Muscular Dystrophy Type 2B, Miyoshi Myopathy, Distal Myopathy with Anterior Tibial Onset
- Study type
- Observational
- Recruitment status
- Completed
- Enrolment
- 149 participants (actual)
- Lead sponsor
- Fundació Institut de Recerca de l'Hospital de la Santa Creu i Sant PauUniversity, hospital or other
- Study start
- 1 Feb 2012 (actual)
- Primary completion
- 27 Feb 2012 (actual)
- Study completion
- 17 Jul 2017 (actual)
- First posted
- 18 Jul 2024 (actual)
- Results
- Not posted in the source record
Clinical summary
The research question as the sponsor registered it. This describes what the study plans to test, not what it found.
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
- Observational model
- Other
- Time perspective
- Prospective
Who may qualify
- Ages
- 18 years and older
- Sex
- All
- Healthy volunteers
- Accepted
- Age groups
- Adult, Older adult
- Study population
- The study focuses on individuals with dysferlinopathies, a heterogeneous group of autosomal recessive muscular dystrophies caused by mutations in the DYSF gene. It examines the effect of vitamin D3 treatment on dysferlin expression in vitro using HL60 cells, monocytes, and myotubes from controls and carriers of a single DYSF mutation. Additionally, an observational study with oral vitamin D3 in a cohort of 21 carriers demonstrates a significant increase in dysferlin expression in treated monocytes compared to untreated carriers. These findings suggest significant therapeutic implications, emphasizing the potential of combining molecular strategies with vitamin D3 supplementation to elevate dysferlin expression to non-pathological levels.
Key inclusion criteria (5 listed)
- 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.
Key exclusion criteria (5 listed)
- 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.
Eligibility is decided by the study team after screening; this overview does not establish that a patient qualifies. Full inclusion and exclusion criteria.
Interventions
| Intervention | Type | Arms |
|---|---|---|
| Protein analysisThe 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. | Diagnostic test | – |
Primary outcome
Dysferlin Expression Levels by age and gender
Time frame: 1 month
Dysferlin expresion lels in monocytes by western blotting
3 secondary outcomes
Identification of Carries by Protein Level
Time frame: 1 month
Percentage of Predicted Carriers Showing Specific Genetic Mutations
Time frame: 1 month
Percentage of DNA Methylation in Target Gene
Time frame: 1 month
Results and safety
The study is completed, but results are not available in the source record. That does not mean the treatment did or did not work.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 18 Jul 2024.
Related trials for Muscular Dystrophies
RecruitingPhase 3
Efficacy, Safety, and Tolerability of Zeleciment Basivarsen (DYNE-101) in Participants With Myotonic Dystrophy Type 1
Myotonic Dystrophy Type 1 (DM1), DM1
Active, not recruiting
Effects of Whole-body Electrical Muscle Stimulation Exercise on Adults With Neuromuscular Disease
Neuromuscular Diseases (NMD), Amyotrophic Lateral Sclerosis
RecruitingEarly Phase 1
Safety and Dystrophin Expression of SPOT-03 in Duchenne Muscular Dystrophy (DMD) Patients
Duchenne Muscular Dystrophy (DMD)
RecruitingObservational study
Preclinical Assessment of an Engineered HMGB1 Protein as a Novel Companion Therapy for Muscular Dystrophies
LAMA2-MD (Merosin Deficient Congenital Muscular Dystrophy, MDC1A)
RecruitingPhase 2
Safety and Efficacy of KER-065 in Participants With Duchenne Muscular Dystrophy
Duchenne Muscular Dystrophy
Referral and contact
AzTrials does not enrol participants or take referrals. Contact the study team or a site listed below; they decide who can take part. This study is not recruiting at the moment.
The record lists no contact. Use the official record to reach the sponsor.
1 site in 1 country: see every site and its status.
Questions about this trial
What is this clinical trial studying?
An observational study of Muscular Dystrophies and Limb-Girdle Muscular Dystrophy Type 2B, run by Fundació Institut de Recerca de l'Hospital de la Santa Creu i Sant Pau at 1 site in Spain.
The full registered description is in the About this study section and the official record.
Who may be eligible to take part?
The sponsor lists 5 inclusion and 5 exclusion criteria. Eligibility is decided by the study team after screening, so read the full criteria and contact a listed site.
Is this clinical trial currently recruiting?
The record says: finished, as of the sponsor's last update on 18 Jul 2024. Status can change between updates, so confirm with the study contact before making plans.
Where is the study taking place?
The record lists 1 site in Spain. Whether a site is taking part right now should be confirmed with that site. See every site.
What are the possible benefits and risks?
They depend on the study and the treatment, and no study can promise a benefit. The study team explains the known risks during informed consent, before anyone joins; the record itself does not list them.
Are results available for this study?
The study is completed, but results are not available in the source record. That does not mean the treatment did or did not work.
How can a doctor refer a patient or contact the research team?
The record lists no contact. The official record names the sponsor, who can be asked directly. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
Dysferlin Expression Levels by age and gender (time frame: 1 month). It is what the study was designed to measure, not a finding.
Where can I read the original study information?
Does a listing mean the treatment is approved or proven to work?
No. A listing means the study is registered. It does not show that the treatment is safe, works, or is approved by a regulator.
How often is this information updated?
AzTrials copies changed records from ClinicalTrials.gov every night and reloads the whole registry every week. The sponsor last updated this record on 18 Jul 2024.