Clinical trials: Rett-related Disorders
Spinal Muscular Atrophy, Fragile X Syndrome
Early Check: Expanded Screening in Newborns
Early Check provides voluntary screening of newborns for a selected panel of conditions. The study has three main objectives: 1) develop and implement an approach to identify affected infants, 2) address the impact on infants and…
- Conditions
- Spinal Muscular Atrophy, Fragile X Syndrome, Fragile X - Premutation, Duchenne Muscular Dystrophy
- Trial name
- NCT03655223
- Testing
- Confirmatory Testing
- Where
- United States
- Volunteers
- 30,000 people, healthy volunteers welcome
- Sponsor
- RTI International
Rett Syndrome
Functional Abilities in Rett Syndrome
The purpose of this study is to evaluate and determinate the functional abilities in Rett syndrome conforming to the established Pediatric Evaluation of Disability Inventory (PEDI).
- Trial name
- NCT00630422
- Where
- Brazil
- Volunteers
- 64 people, healthy volunteers welcome
- Sponsor
- Faculdades Metropolitanas Unidas
Rett Syndrome, Preserved Speech Variant, Mecp2 Duplication Syndrome
Rare Diseases Clinical Research Network: Neurophysiological Correlates
The overall purpose of this project is to advance understanding of the neurophysiological features of Rett syndrome (RTT), MECP2 Duplication (MECP2 Dup) and RTT-related disorders (CDKL5, FOXG1) to gain insight into disease…
- Conditions
- Rett Syndrome, Preserved Speech Variant, Mecp2 Duplication Syndrome, Rett-related Disorders
- Trial name
- NCT03077308
- Testing
- Auditory and Visual Event-related Potentials and EEG
- Where
- 5 sites in United States
- Volunteers
- 185 people, healthy volunteers welcome
- Sponsor
- University of Alabama at Birmingham