Clinical trials: Genetic Information
Congenital Muscular Dystrophy With ITGA7 (Integrin Alpha-7) Deficiency, Alpha-Dystroglycanopathy (Congenital Muscular Dystrophy and Abnormal Glycosylation of Dystroglycan With Severe Epilepsy)
Congenital Muscle Disease Study of Patient and Family Reported Medical Information
The 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…
- Conditions
- Congenital Muscular Dystrophy With ITGA7 (Integrin Alpha-7) Deficiency, Alpha-Dystroglycanopathy (Congenital Muscular Dystrophy and Abnormal Glycosylation of Dystroglycan With Severe Epilepsy), Alpha-Dystroglycanopathy (Congenital Muscular Dystrophy With Fatty Liver and Infantile-onset Cataract Caused by TRAPPC11 Mutations), Alpha-Dystroglycanopathy (Congenital Muscular Dystrophy With Hypoglycosylation of Dystroglycan)
- Trial name
- CMDPROS (NCT01403402)
- Where
- United States
- Volunteers
- 4,000 people
- Sponsor
- Cure CMD
Mental Health, Child Wellbeing
Generation Victoria Cohort 2020s: A Statewide Longitudinal Cohort Study of Victorian Children and Their Parents
Generation Victoria (GenV) is a longitudinal, population-based study of Victorian children and their parents that will bring together data on a wide range of conditions ,exposures and outcomes.
- Conditions
- Mental Health, Child Wellbeing, Infant Health, Child Health
- Trial name
- GenV (NCT05394363)
- Where
- Australia
- Volunteers
- 150,000 people, healthy volunteers welcome
- Sponsor
- Murdoch Childrens Research Institute
Hypertrophic Cardiomyopathy, Hearing Loss
Refining Information Technology Support for Genetics in Medicine
The clinical use of genetic testing is expanding and, as a result, the number of variants identified in patients is growing. Knowledge of the clinical impact of these variants improves over time.
- Conditions
- Hypertrophic Cardiomyopathy, Hearing Loss, Cancer
- Trial name
- RISGIM (NCT01225978)
- Testing
- GeneInsight Clinic (GIC)
- Where
- 9 sites in United States, Canada
- Volunteers
- 40 people, healthy volunteers welcome
- Sponsor
- Brigham and Women's Hospital