Newcastle University — Biomedical Watch V2

Traitements4programmes

Essais2liés

Publications3liées

SourceDBlocale

Traitements

4

Molécule	Indication / population	Phase	Objectif	Pays	Résultat
International GNE Myopathy Patient RegistryGNE myopathy, an ultra-rare disease, is a severe progressive myopathy that typically presents in early adulthood as weakness in the distal muscles of the lower extremities and progresses proximally, leading to a loss of muscle strength and function, and ultimately a wheelchair-bound state. The rate of progression is gradual and variable over the course of 10-20 years or longer. There is a need to understand the world wide epidemiology of this ultra-rare condition, better understand a long-term disease course and the progression of disease-specific features, support translational research by evaluating burden illness and support clinical research recruitment. Therefore, the study will longitudinally collect information via an online patient registry platform.	Myopathies	À vérifier	Ralentissement de la progression	United Kingdom	À vérifier
The United Kingdom Facioscapulohumeral Muscular Dystrophy Patient RegistryFacioscapulohumeral Dystrophy (FSHD) is the third most common form of neuromuscular dystrophy worldwide with an estimated prevalence of one in 20,000. FSHD is an autosomal dominant genetic disease and is estimated to affect up to 3,000 people in the UK. The patient registry facilitates a questionnaire based research study to better characterise and understand the disease in the UK, and helps to identify potential participants eligible for clinical trials.	Myopathies	À vérifier	À vérifier	United Kingdom	À vérifier
The United Kingdom Facioscapulohumeral Muscular Dystrophy Patient RegistryFacioscapulohumeral Dystrophy (FSHD) is the third most common form of neuromuscular dystrophy worldwide with an estimated prevalence of one in 20,000. FSHD is an autosomal dominant genetic disease and is estimated to affect up to 3,000 people in the UK. The patient registry facilitates a questionnaire based research study to better characterise and understand the disease in the UK, and helps to identify potential participants eligible for clinical trials.	Myopathies	À vérifier	À vérifier	United Kingdom	À vérifier
International GNE Myopathy Patient RegistryGNE myopathy, an ultra-rare disease, is a severe progressive myopathy that typically presents in early adulthood as weakness in the distal muscles of the lower extremities and progresses proximally, leading to a loss of muscle strength and function, and ultimately a wheelchair-bound state. The rate of progression is gradual and variable over the course of 10-20 years or longer. There is a need to understand the world wide epidemiology of this ultra-rare condition, better understand a long-term disease course and the progression of disease-specific features, support translational research by evaluating burden illness and support clinical research recruitment. Therefore, the study will longitudinally collect information via an online patient registry platform.	Myopathies	À vérifier	Ralentissement de la progression	United Kingdom	À vérifier

Essais cliniques

2

Molécule	Indication / population	Phase	NCT	Titre	Statut
International GNE Myopathy Patient Registry	Myopathies	À vérifier	NCT04009226	International GNE Myopathy Patient Registry	COMPLETED
The United Kingdom Facioscapulohumeral Muscular Dystrophy Patient Registry	Myopathies	À vérifier	NCT04001582	The United Kingdom Facioscapulohumeral Muscular Dystrophy Patient Registry	RECRUITING

Publications

3

Molécule	Indication / population	Titre	Journal	Date
International GNE Myopathy Patient Registry		Phenotypic stratification and genotype-phenotype correlation in a heterogeneous, international cohort of GNE myopathy patients: First report from the GNE myopathy Disease Monitoring Program, registry portion.	Neuromuscular disorders : NMD
International GNE Myopathy Patient Registry		GNE myopathy: from clinics and genetics to pathology and research strategies.	Orphanet journal of rare diseases
International GNE Myopathy Patient Registry		Decoding GNE Myopathy: From Molecular Basis to Therapeutic Advances.	Annals of Indian Academy of Neurology