Cohort Studies, LAMA2-MD (Merosin Deficient Congenital Muscular Dystrophy, MDC1A), Merosin Deficient CMD (Full or Partial), Merosin Deficient Congenital Muscular Dystrophy, Muscular Dystrophies
Conditions
Keywords
Merosin, LAMA2, Laminin, Dystrophy, natural history
Brief 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.
Interventions
DIAGNOSTIC_TESTMotor function scales
Evaluation of patients motor function using motor scales (MFM32, CHOP)
DIAGNOSTIC_TESTMUSCLE ULTRASOUND
Ultrasound guided evaluation of 28 muscles evaluated accross different body regions, assessed using the Heckmatt gradinf system (semiquantitative scale).
DIAGNOSTIC_TESTMuscle Elastography
Assess the mechanical properties of muscles, such as stiffness and elasticity.
Complete physical evaluations including muscle power and goniometry measurements
OTHERVentilatory/ respiratory and other support assessment
Assessment of ventilatory, respiratory, and other support needs to evaluate the necessity of assistive devices
Assessment of bulbar funcionality: feeding devices, nutritional status.
Motor milestones age of acquisition and loss
Sponsors
ASOCIACIÓN IMPÚLSATE PARA LA CURA DE LOS NIÑOS CON DÉFICIT DE MEROSINA
Hospital Universitari Vall d'Hebron Research Institute
Study design
Observational model
COHORT
Time perspective
PROSPECTIVE
Eligibility
Sex/Gender
ALL
Age
0 Minutes to 100 Years
Healthy volunteers
No
Inclusion criteria
* All patients with compatible clinical presentation and identification of 2 pathogenic variants in LAMA2, or muscle biopsy with decreased laminin alpha2 protein and at least one pathogenic variant * Signed informed consent by the Legal Authority Responsible and/or assent by the subject (starting from 6 years old)
Design outcomes
Primary
| Measure | Time frame | Description |
|---|---|---|
| Change in Motor function Measurement (MFM32) score | Change from baseline through study completion, an average of 5 years | Global motor functioning. The items of the MFM are classified in 3 domains: D1: standing and transfers, D2: Axial and proximal motor function, D3: Distal motor function. Higher scored indicate a better outcome. The range of the total score is 0-96. The main point of interest includes the change of MFM score yearly, over a period of 5 years. |
| Change in Motor Milestones | Change from baseline through study completion, an average of 5 years | Age at acquisition (yes/no) and loss of all motor functions (ex: Head control, sitting, standing, walking, running, climbing stairs and tip toe walking) |
| Change in Muscle Echogenicity by Muscle Ultrasound | Change from baseline through study completion, an average of 5 years | A standardized muscle ultrasound protocol of assessment is performed (whole body). Muscle images are scored using the Heckmatt scale (Score 1-4): Heckmatt grade 1 represents a normal muscle image, Heckmatt grade 2 shows an increased echogenicity without attenuation of the deeper image regions, Heckmatt grade 3 indicates a larger increase in echogenicity with some visible loss of normal muscle architecture, and Heckmatt grade 4 shows a strongly increased echogenicity with complete loss of recognizable muscle architecture. |
Countries
Spain
Contacts
Primary ContactDavid Gómez-Andrés
Outcome results
None listed