NCT06924125

Spanish Natural History Study for LAMA2 Muscular Dystrophy

• Status: Recruiting
• Phase: —
• Study type: Observational
• Enrollment: 100 (estimated)
• Sponsor: Hospital Universitari Vall d'Hebron Research Institute · Academic / Other
• Sex: All
• Age: 0 Minutes – 100 Years
• Healthy volunteers: Not accepted

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.

Conditions

• LAMA2-MD (Merosin Deficient Congenital Muscular Dystrophy, MDC1A)
• Merosin Deficient CMD (Full or Partial)
• Merosin Deficient Congenital Muscular Dystrophy
• Muscular Dystrophies
• Cohort Studies

Interventions

Type	Name	Description
DIAGNOSTIC_TEST	Motor function scales	Evaluation of patients motor function using motor scales (MFM32, CHOP)
DIAGNOSTIC_TEST	MUSCLE ULTRASOUND	Ultrasound guided evaluation of 28 muscles evaluated accross different body regions, assessed using the Heckmatt gradinf system (semiquantitative scale).
DIAGNOSTIC_TEST	Muscle Elastography	Assess the mechanical properties of muscles, such as stiffness and elasticity.
OTHER	Complete physical examination	Complete physical evaluations including muscle power and goniometry measurements
OTHER	Ventilatory/ respiratory and other support assessment	Assessment of ventilatory, respiratory, and other support needs to evaluate the necessity of assistive devices
OTHER	Oromotor function and nutrition	Assessment of bulbar funcionality: feeding devices, nutritional status.
OTHER	Motor Milestone Assessments	Motor milestones age of acquisition and loss

Timeline

• Start date: 2021-07-27
• Primary completion: 2030-07-01
• Completion: 2030-07-01
• First posted: 2025-04-11
• Last updated: 2025-04-11

Locations

1 site across 1 country: Spain