Cure CMD — Biomedical Watch V2

Traitements2programmes

Essais1liés

Publications3liées

SourceDBlocale

Traitements

2

Molécule	Indication / population	Phase	Objectif	Pays	Résultat
CMDPROS — Congenital Muscle Disease Study of Patient and Family Reported Medical InformationThe Congenital Muscle Disease Patient and Proxy Reported Outcome Study (CMDPROS) is a longitudinal 10 year study to identify and trend care parameters, adverse events in the congenital muscle diseases using the Congenital Muscle Disease International Registry (CMDIR) to acquire necessary data for adverse event calculations (intake survey and medical records curation). To support this study and become a participant, we ask that you register in the CMDIR. You can do this by visiting www.cmdir.org. There is no travel required. The registry includes affected individuals with congenital muscular dystrophy, congenital myopathy, and congenital myasthenic syndrome and registers through the late onset spectrum for these disease groups. The CMDIR was created to identify the global congenital muscle disease population for the purpose of raising awareness, standards of care, clinical trials and in the future a treatment or cure. Simply put, we will not be successful in finding a treatment or cure unless we know who the affected individuals are, what the diagnosis is and how the disease is affecting the individual. Registering in the CMDIR means that you will enter demographic information and complete an intake survey. We would then ask that you provide records regarding the diagnosis and treatment of CMD, including genetic testing, muscle biopsy, pulmonary function testing, sleep studies, clinic visit notes, and hospital discharge summaries. Study hypothesis: 1. To use patient and proxy reported survey answers and medical reports to build a longitudinal care and outcomes database across the congenital muscle diseases. 2. To generate congenital muscle disease subtype specific adverse event rates and correlate with key care parameters.	Myopathies	À vérifier	À vérifier	United States	À vérifier
CMDPROS — Congenital Muscle Disease Study of Patient and Family Reported Medical InformationThe Congenital Muscle Disease Patient and Proxy Reported Outcome Study (CMDPROS) is a longitudinal 10 year study to identify and trend care parameters, adverse events in the congenital muscle diseases using the Congenital Muscle Disease International Registry (CMDIR) to acquire necessary data for adverse event calculations (intake survey and medical records curation). To support this study and become a participant, we ask that you register in the CMDIR. You can do this by visiting www.cmdir.org. There is no travel required. The registry includes affected individuals with congenital muscular dystrophy, congenital myopathy, and congenital myasthenic syndrome and registers through the late onset spectrum for these disease groups. The CMDIR was created to identify the global congenital muscle disease population for the purpose of raising awareness, standards of care, clinical trials and in the future a treatment or cure. Simply put, we will not be successful in finding a treatment or cure unless we know who the affected individuals are, what the diagnosis is and how the disease is affecting the individual. Registering in the CMDIR means that you will enter demographic information and complete an intake survey. We would then ask that you provide records regarding the diagnosis and treatment of CMD, including genetic testing, muscle biopsy, pulmonary function testing, sleep studies, clinic visit notes, and hospital discharge summaries. Study hypothesis: 1. To use patient and proxy reported survey answers and medical reports to build a longitudinal care and outcomes database across the congenital muscle diseases. 2. To generate congenital muscle disease subtype specific adverse event rates and correlate with key care parameters.	Myopathies	À vérifier	À vérifier	United States	À vérifier

Essais cliniques

1

Molécule	Indication / population	Phase	NCT	Titre	Statut
CMDPROS — Congenital Muscle Disease Study of Patient and Family Reported Medical Information	Myopathies	À vérifier	NCT01403402	CMDPROS — Congenital Muscle Disease Study of Patient and Family Reported Medical Information	RECRUITING

Publications

3

Molécule	Indication / population	Titre	Journal	Date
CMDPROS — Congenital Muscle Disease Study of Patient and Family Reported Medical Information		Cosegregation of congenital dysferlinopathy phenotype and marinesco-sjögren syndrome: a case report with literature review.	BMC pediatrics
CMDPROS — Congenital Muscle Disease Study of Patient and Family Reported Medical Information		Liver health in myotubular and centronuclear myopathies: a patient-driven data collection study to better understand liver health and improve standards of care.	Neuromuscular disorders : NMD
CMDPROS — Congenital Muscle Disease Study of Patient and Family Reported Medical Information		Six novel SACS mutations expand the autosomal recessive spastic ataxia of Charlevoix-Saguenay spectrum.	Orphanet journal of rare diseases