Clinical trials: Periventricular Heterotopias
Epilepsy, Localization-related Epilepsy
Epilepsy Phenome/Genome Project
The purpose of this study is to collect detailed information about the characteristics and genetics of a large number of individuals with epilepsy.
- Conditions
- Epilepsy, Localization-related Epilepsy, Infantile Spasms, Lennox-Gastaut Syndrome
- Trial name
- EPGP (NCT00552045)
- Where
- 25 sites in United States, Argentina and 1 more
- Volunteers
- 4,150 people
- Sponsor
- University of California, San Francisco
Intellectual Disability, Rubinstein-Taybi Syndrome
Functional Tests to Resolve Unsolved Rare Diseases. Rares.
Rares diseases are a heterogeneous group of conditions which need important tools for diagnosis. The use of high-throughput sequencing is able to diagnose half of the patients.
- Conditions
- Intellectual Disability, Rubinstein-Taybi Syndrome, Cystic Fibrosis, Congenital Heart Defect
- Trial name
- RID (NCT05696912)
- Testing
- Ex-vivo approach concerning 25 patients, In-vitro approach concerning 25 patients
- Where
- France
- Volunteers
- 50 people
- Sponsor
- University Hospital, Bordeaux