NCT06924125View on ClinicalTrials.gov

Spanish Natural History Study for LAMA2 Muscular Dystrophy

RecruitingOBSERVATIONAL
Enrollment

100

Participants

Timeline

Start Date

July 27, 2021

Primary Completion Date

July 1, 2030

Study Completion Date

July 1, 2030

Conditions
LAMA2-MD (Merosin Deficient Congenital Muscular Dystrophy, MDC1A)Merosin Deficient CMD (Full or Partial)Merosin Deficient Congenital Muscular DystrophyMuscular DystrophiesCohort 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

Trial Locations (1)

08035

RECRUITING

University Hospital Vall d'Hebron, Barcelona

All Listed Sponsors
collaborator

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

UNKNOWN

lead

Hospital Universitari Vall d'Hebron Research Institute

OTHER