Spanish Natural History Study for LAMA2 Muscular Dystrophy

Condition(s) studied

Investigational drug(s) / intervention(s)

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

Study 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.

Eligibility

Primary outcome measure(s)

• 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.

Trial sites (1)

More Hospital Universitari Vall d'Hebron Research Institute trials in Spain

Other trials for the same condition