Status:
COMPLETED
LAMA2 Genetic Correction
Lead Sponsor:
Maastricht University
Conditions:
MDC1A
Eligibility:
All Genders
18+ years
Brief Summary
Merosin-deficient congenital muscle dystrophy type 1a (MDC1a), or LAMA2 muscular dystrophy (LAMA2-MD) is a severe autosomal recessive form of muscular dystrophy that is caused by homozygous or compoun...
Eligibility Criteria
Inclusion
- 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
- MDC1a 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
Key Trial Info
Start Date :
July 1 2020
Trial Type :
OBSERVATIONAL
Allocation :
ACTUAL
End Date :
July 18 2024
Estimated Enrollment :
7 Patients enrolled
Trial Details
Trial ID
NCT06582537
Start Date
July 1 2020
End Date
July 18 2024
Last Update
September 3 2024
Active Locations (1)
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1
Academisch Ziekenhuis Maastricht
Maastricht, Limburg, Netherlands, 6229HX