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Spanish Natural History Study for LAMA2 Muscular Dystrophy
Sponsor: Hospital Universitari Vall d'Hebron Research Institute
Summary
The objective of this natural history study is to comprehensively characterize the disease progression and clinical features of LAMA2-related dystrophies (LAMA2-RD) in the pediatric population. The study aims to establish a well-defined cohort of patients in Spain, enabling long-term follow-up and facilitating recruitment for future clinical trials.
Key Details
Gender
All
Age Range
0 Minutes - 100 Years
Study Type
OBSERVATIONAL
Enrollment
100
Start Date
2021-07-27
Completion Date
2030-07-01
Last Updated
2025-04-11
Healthy Volunteers
No
Conditions
Interventions
Motor function scales
Evaluation of patients motor function using motor scales (MFM32, CHOP)
MUSCLE ULTRASOUND
Ultrasound guided evaluation of 28 muscles evaluated accross different body regions, assessed using the Heckmatt gradinf system (semiquantitative scale).
Muscle Elastography
Assess the mechanical properties of muscles, such as stiffness and elasticity.
Complete physical examination
Complete physical evaluations including muscle power and goniometry measurements
Ventilatory/ respiratory and other support assessment
Assessment of ventilatory, respiratory, and other support needs to evaluate the necessity of assistive devices
Oromotor function and nutrition
Assessment of bulbar funcionality: feeding devices, nutritional status.
Motor Milestone Assessments
Motor milestones age of acquisition and loss
Locations (1)
University Hospital Vall d'Hebron
Barcelona, Barcelona, Spain