Skip to main content
OpenTrials
Completed

NCT Number: NCT06507215

Dysferlinopathy 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.

Completed

Looking for future studies?

Notify Me

Key information

Conditions

Muscular Dystrophies Congenital, Hereditary, and Neonatal Diseases and Abnormalities Distal Myopathy With Anterior Tibial Onset Genetic Diseases, Inborn Limb-Girdle Muscular Dystrophy Type 2B Limb-girdle muscular dystrophy, type 2B Miyoshi Myopathy Muscular Diseases Muscular Disorders, Atrophic Musculoskeletal Diseases Myopathy, Distal, with Anterior Tibial Onset Nervous System Diseases Neuromuscular Diseases

Age range

18 year and older

Sex eligibility

All sexes

Study type

Observational

Primary location

Eduard Gallardo Vigo

Barcelona, Catalonia, 08041, Spain

Who can participate

Healthy volunteers accepted: Yes

Only the study team can determine whether someone qualifies for participation.

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.

Treatment and study plan

Protein analysis

Diagnostic 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.

Primary outcomes

  1. Dysferlin Expression Levels by age and gender

    Time frame: 1 month

    Dysferlin expresion lels in monocytes by western blotting

Secondary outcomes

  1. Identification of Carries by Protein Level

    Time frame: 1 month

    Identification of Carries by Protein Level

  2. Percentage of Predicted Carriers Showing Specific Genetic Mutations

    Time frame: 1 month

    Mutation Analysis of Predicted Carriers

  3. Percentage of DNA Methylation in Target Gene

    Time frame: 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.

Sponsors and collaborators

Lead sponsor

Fundació Institut de Recerca de l'Hospital de la Santa Creu i Sant Pau

Other

Registry information

Official study 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.

Important dates

Study start
2012
Primary completion
2012
Study completion
2017
First posted
Jul 18, 2024
Registry last updated
Jul 18, 2024

OpenTrials presents study information sourced from ClinicalTrials.gov. The official registry record should be consulted for the latest information.

View the official ClinicalTrials.gov record (opens in a new tab)

This listing is for discovery and informational purposes only. It is not medical advice, does not guarantee that a study is recruiting, and does not determine eligibility. Contact the study team and a qualified healthcare professional when considering participation.

Related clinical trials

Published trials that share one or more normalized conditions with this study.