Università Vita-Salute San Raffaele — Biomedical Watch V2

Traitements2programmes

Essais1liés

Publications0liées

SourceDBlocale

Traitements

2

Molécule	Indication / population	Phase	Objectif	Pays	Résultat
Characterization of the Natural History of LAMA2-RD and Identification of Novel Disease BiomarkersThe 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: * What is the prevalence and nature of cardiac involvement, and how do this relate to age and muscular phenotype? * What is the prevalence of peripheral neuropathy, and how do this relate to age and muscular phenotype? * What is the extent of respiratory, nutritional, skeletal, and cognitive/brain involvement, particularly in adults with more severe vs less severe phenotypes? * How does quality of life and transition to adulthood occur in individuals with LAMA2-RD? * Which nomenclature best reflects differences in disease severity and may support future clinical trial design? Study participants will: * Undergo retrospective and prospective clinical assessments every 12 months for 2 years across multiple centers. * A subset of adult participants (n=20) will receive cardiac MRI with contrast enhancement. * Provide biological samples during routine blood testing for future research.	Myopathies	À vérifier	À vérifier	Italy	À vérifier
Characterization of the Natural History of LAMA2-RD and Identification of Novel Disease BiomarkersThe 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: * What is the prevalence and nature of cardiac involvement, and how do this relate to age and muscular phenotype? * What is the prevalence of peripheral neuropathy, and how do this relate to age and muscular phenotype? * What is the extent of respiratory, nutritional, skeletal, and cognitive/brain involvement, particularly in adults with more severe vs less severe phenotypes? * How does quality of life and transition to adulthood occur in individuals with LAMA2-RD? * Which nomenclature best reflects differences in disease severity and may support future clinical trial design? Study participants will: * Undergo retrospective and prospective clinical assessments every 12 months for 2 years across multiple centers. * A subset of adult participants (n=20) will receive cardiac MRI with contrast enhancement. * Provide biological samples during routine blood testing for future research.	Myopathies	À vérifier	À vérifier	Italy	À vérifier

Essais cliniques

1

Molécule	Indication / population	Phase	NCT	Titre	Statut
Characterization of the Natural History of LAMA2-RD and Identification of Novel Disease Biomarkers	Myopathies	À vérifier	NCT07125040	Characterization of the Natural History of LAMA2-RD and Identification of Novel Disease Biomarkers	RECRUITING

Publications

0

Molécule	Indication / population	Titre	Journal	Date
Aucune publication.