Actively Recruiting
Spanish Natural History Study for LAMA2 Muscular Dystrophy
Led by Hospital Universitari Vall d'Hebron Research Institute · Updated on 2025-04-11
100
Participants Needed
1
Research Sites
N/A
Total Duration
On this page
Sponsors
H
Hospital Universitari Vall d'Hebron Research Institute
Lead Sponsor
A
ASOCIACIÓN IMPÚLSATE PARA LA CURA DE LOS NIÑOS CON DÉFICIT DE MEROSINA
Collaborating Sponsor
AI-Summary
What this Trial Is About
Researchers are conducting a natural history study to better understand how LAMA2-related dystrophies (LAMA2-RD), a type of muscular dystrophy, progress in children. The goal is to create a detailed group of patients in Spain to follow over time and to help with future clinical trial recruitment. This observational study aims to capture the clinical features and disease changes in the pediatric population affected by this condition. Participants will undergo various assessments including motor function evaluations using scales like MFM32 and CHOP, muscle ultrasounds assessing 28 muscles across different body areas with a semi-quantitative grading system, and muscle elastography to measure muscle stiffness and elasticity. Additional evaluations include complete physical exams focusing on muscle strength and joint movement, assessments of breathing support needs, feeding and nutritional status, and tracking of motor milestones such as ages when movements are gained or lost. During the study, participants will be monitored over an average of five years with regular assessments of motor function, muscle ultrasound changes, and motor milestone progress. The primary outcomes include changes in motor function scores, muscle ultrasound imaging, and motor milestones from the start to the end of the study. This long-term follow-up will help researchers understand disease progression and support future therapeutic studies.
CONDITIONS
Brief Title
Spanish Natural History Study for LAMA2 Muscular Dystrophy
Who Can Participate
Eligibility Criteria
You may qualify if you...
- Patients with clinical features compatible with LAMA2-related muscular dystrophy and either 2 pathogenic LAMA2 gene variants or muscle biopsy showing decreased laminin alpha2 protein with at least one pathogenic variant
- Signed informed consent by legal guardian or assent by the participant starting at 6 years old
You will not qualify if you...
- None specified in the provided criteria
AI-Screening
AI-Powered Screening
Complete this quick 3-step screening to check your eligibility
Your Study Journey
Duration - 2 to 4 weeks
Participants are screened for eligibility to participate in the trial.
1 visit (in-person)
Duration - Up to 5 years
Participants undergo evaluations including motor function scales, muscle ultrasound, muscle elastography, complete physical examinations, ventilatory and respiratory assessments, oromotor function and nutrition assessments, and motor milestone assessments.
Periodic visits for assessments over an average of 5 years
Duration - Up to 5 years
Participants are monitored over time to observe changes in motor function, motor milestones, and muscle echogenicity.
Regular follow-up visits during the 5-year study period
Trial Site Locations
Total: 1 location
1
University Hospital Vall d'Hebron
Barcelona, Barcelona, Spain, 08035
Actively Recruiting
Research Team
D
David Gómez-Andrés
How is the study designed?
Study Type
OBSERVATIONAL
Masking
N/A
Allocation
N/A
Model
N/A
Primary Purpose
N/A
Number of Arms
1
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