Clinical trials: Congenital Disorders of Glycosylation
Congenital Disorders of Glycosylation
Large-Scale Metabolomic Profiling for the Diagnosis of Inborn Errors of Metabolism
Researchers are trying to determine the efficacy of a global metabolomic approach in testing for and diagnosing inborn errors of metabolism as opposed to traditional testing methods.
- Trial name
- NCT04201067
- Where
- United States
- Volunteers
- 240 people, healthy volunteers welcome
- Sponsor
- Mayo Clinic
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
Congenital Disorders of Glycosylation
Study of Hemostasis in Patients With Congenital Disorder of Glycosylation
The purpose of this study is to investigate the coagulation balance in a cohort of congenital disorder of glycosylation (CDG) patients using conventional tests combined with an integrated approach of their coagulation disorders…
- Trial name
- CDG-Coag (NCT03560570)
- Testing
- Coagulation assay, Clinical data collection
- Where
- France
- Volunteers
- 57 people, healthy volunteers welcome
- Sponsor
- Assistance Publique - Hôpitaux de Paris