Spanish Natural History Study for LAMA2 Muscular Dystrophy

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

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

Sponsors & Collaborators

• ASOCIACIÓN IMPÚLSATE PARA LA CURA DE LOS NIÑOS CON DÉFICIT DE MEROSINA

  collaborator UNKNOWN

• Hospital Universitari Vall d'Hebron Research Institute

  lead OTHER

Eligibility

Min Age

0 Minutes

Max Age

100 Years

Sex

ALL

Healthy Volunteers

No

Timeline & Regulatory

Start

2021-07-27

Primary Completion

2030-07-01

Completion

2030-07-01

Countries

• Spain

Study Locations