merosin-deficient congenital muscular dystrophy
Conditions
Interventions
None listed
Sponsors
Universiteit Maastricht
Eligibility
Age
18 Years to 64 Years
Inclusion criteria
Inclusion criteria: LAMA2 mutation carriers: - Age >18 years - Heterozygous or homozygous LAMA2 c.5562+5G>C mutation - Written informed consent Controls: - Written informed consent - Age >18 years - No muscular dystrophy or other disease known to affect muscle morphology or function
Exclusion criteria
Exclusion criteria: MDC1 patients and controls: - No informed consent - Use of anti-coagulants, anti-thrombotics and other medication influencing coagulation - Have a weekly alcohol intake of >= 35 units (men) or >= 24 units (women) - Current history of drug abuse - A history of strokes - Significant concurrent illness - Ongoing participation in other clinical trials - Major surgery within 4 weeks of the visit - Pregnant or lactating women - Patients unable and/or unwilling to comply with treatment and study instructions - Any other factor that in the opinion of the investigator excludes the patient from the study
Design outcomes
Primary
| Measure | Time frame |
|---|---|
| Assessment of the effect of LAMA2 mutations on skeletal muscle LAMA protein quality and quantity and in vitro analysis of CRISPR-Cas9 genetically corrected mesoangioblasts of MDC1a/LAMA2-MD patients compared with control mesoangioblasts. | — |
Secondary
| Measure | Time frame |
|---|---|
| - Blood markers muscle inflammation, damage and regeneration: CK, TNFa, IL-6, SDF1 (ELISA assay). - DNA analysis for verification of the LAMA2 mutations or exclusion of LAMA2 mutations in controls. | — |
Countries
Netherlands
Outcome results
None listed