Clinical trials: Protein C Deficiency
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
Lung Diseases, Respiratory Distress Syndrome, Newborn
Epidemiology of Surfactant Protein-B Deficiency
The purpose of this study is to test the hypothesis that excess, rare, functionally disruptive single nucleotide polymorphisms (SNPs) characterize genes (e.g., the surfactant protein-B gene)(SFTPB) and gene networks (e.g., the…
- Conditions
- Lung Diseases, Respiratory Distress Syndrome, Newborn, Pulmonary Surfactant, Lung Diseases, Interstitial
- Trial name
- NCT00014859
- Where
- United States
- Volunteers
- 5,176 people, healthy volunteers welcome
- Sponsor
- Washington University School of Medicine