An observational study in LAMA2-MD (Merosin Deficient Congenital Muscular Dystrophy, MDC1A), LAMA2-MD \(Merosin Deficient Congenital Muscular Dystrophy, MDC1A\) and Merosin Deficient CMD (Full or Partial), sponsored by Università Vita-Salute San Raffaele. Recruiting at 1 site in Italy. Per ClinicalTrials.gov, last updated 2025-08-15.
Sponsored by Università Vita-Salute San Raffaele · Observational
The goal of this observational study is to learn about the natural history and multi-organ involvement of Laminin-Alpha-2-Related Dystrophy (LAMA2-RD) in pediatric and adult patients. The main questions it aims to answer are:
Study participants will:
Background: LAMA2-RD is an autosomal recessive disorder due mutations in the LAMA2 gene. The clinical manifestations of LAMA2-RD range from severe, early-onset congenital muscular dystrophy (CMD) to a milder limb-girdle type muscular dystrophy (LGMDR23). A few promising therapies are getting closer to clinical application, but clinical trial readiness is limited by the paucity of natural history studies. Although some groups have recently shed light on different aspects of the disease, these are usually focused on pediatric populations. A detailed description of the disease in adult patients as well as the importance of specific organs involvement (e.g., heart and peripheral nervous system) are lacking.
Objectives: To describe the natural history of a large cohort of patients affected by LAMA2-RD (n=40-45).
Specifically, the investigators aim 1) to clarify the prevalence and characteristics of cardiac involvement, and to correlate the latter with age and muscular phenotype 2) to clarify the degree of neuropathic involvement 3) to clarify respiratory, nutritional, skeletal, and brain/cognitive involvement, with a focus on adult population 4) to clarify which nomenclature better captures differences in terms of disease severity, to help refine inclusion criteria for trials 5) to understand how quality of life is impacted and transition to adulthood performed 6) to collect biological material for future research Design and methods: This will be a multicenter, retrospective and prospective longitudinal observational study with additional procedures for a subset of patients: cardiac MRI with contrast enhancement and an additional sample handling during routine blood test. Patients will be assessed every 12 months over a period of 2 years. In addition to routine clinical assessments, cardiac MRI will be performed in a selected 20 adult population. The differential involvement of specific organs between LAMA2-RD subpopulations will be analyzed.
Università Vita-Salute San Raffaele is the lead sponsor of 84 studies on the registry; 33 are open to participants now.
Counted across the registry records on this site, refreshed daily.
Adult and pediatric patients affected by LAMA2-RD
Diagnosis of LAMA2-related dystrophy confirmed via:
merosin (laminin-211) and at least one causative mutation in the LAMA2 gene or
EXCLUSION
On a subset of adult patients
Rhythm abnormalities
Prsence or absence of rhythm abnormalities (Brady arrhythmia, supraventricular and ventricular tachyarrhythmia) as detected by ECG and 24-hour Holter ECG
Time frame: 0, 12, 24 months
Cardiac function
Left ventricular end-diastolic volume (LVEDV) and left ventricular ejection fraction (LVEF) measured by transthoracic echocardiogram
Time frame: 0, 12, 24 months
Cardiac inflammation and fibrosis
Cardiac inflammation and fibrosis by cardiac Magnetic Resonance Imaging (MRI) (only in adult patients)
Time frame: T0
Motor outcome 1
The Children's Hospital of Philadelphia Infant Test of Neuromuscular Disorders (CHOP INTEND) (0-2 years); maximum score 64
Time frame: 0, 12, 24 months
Motor outcome 2
Motor Function Measure (MFM20 2-5 years; maximum score 60; MFM32 ≥ 5 years; maximum score 96)
Time frame: 0,12, 24 months
Motor outcome 3 (Upper limbs)
Upper limbs function: Performance upper limb module 2.0. (PUL 2.0); maximum score 42
Time frame: 0, 12, 24 months
Motor outcome 4 (Timed tests)
6 minutes walk test (6MWT) - metres
Time frame: 0, 12, 24 months
Motor outcome 4 (Timed tests)
Timed rise from the floor (TRF) - seconds
Time frame: 0, 12, 24 months
Motor outcome 5
North Star Assessment for Limb-Girdle Type Muscular Dystrophies (NSAD); maximum score 54
Time frame: 0, 12, 24 months
Respiratory function
Lung function measurement (Forced vital capacity -FVC L/%predicted
Time frame: 0, 12, 24 months
Respiratory function
Forced Expiratory Volume in 1 second -- FEV1 L/%predicted
Time frame: 0, 12, 24 months
Respiratory function
Maximal Inspiratory Pressure- MIP
Time frame: 0, 12, 24 months
Respiratory function
Maximal Expiratory Pressure - MEP
Time frame: 0, 12, 24 months
Respiratory function
Peak exploratory flow - PEF
Time frame: 0, 12, 24 months
Respiratory function
Peak cough flow - PCF
Time frame: 0, 12, 24 months
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Muscular dystrophy congenital, merosin negative
Università Vita-Salute San Raffaele