Clinical trials: Methylmalonic Aciduria and Homocystinuria,Cblc Type
Methylmalonic Aciduria and Homocystinuria,Cblc Type, Genetic Disease
EPI-743 in Cobalamin C Defect: Effects on Visual and Neurological Impairment
The aim of the research is to investigate the safety and efficacy of EPI-743 treatment in patients with Cbl-C defect and related visual and neurological impairment.
- Conditions
- Methylmalonic Aciduria and Homocystinuria,Cblc Type, Genetic Disease, Retinopathy
- Trial name
- NCT01793090
- Testing
- Epi-743
- Where
- Italy
- Volunteers
- 30 people
- Sponsor
- Bambino Gesù Hospital and Research Institute
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