Clinical trials: Phosphoglucomutase 1 Deficiency
Congenital Adrenal Hyperplasia, Familial Hyperinsulinemic Hypoglycemia 1
Baby Detect : Genomic Newborn Screening
Newborn screening (NBS) is a global initiative of systematic testing at birth to identify babies with pre-defined severe but treatable conditions.
- Conditions
- Congenital Adrenal Hyperplasia, Familial Hyperinsulinemic Hypoglycemia 1, Phosphoglucomutase 1 Deficiency, Maturity Onset Diabetes of the Young
- Trial name
- BabyDetect (NCT05687474)
- Where
- Belgium
- Volunteers
- 6,824 people, healthy volunteers welcome
- Sponsor
- Centre Hospitalier Universitaire de Liege
Metabolism, Inborn Errors, Lipid Metabolism, Inborn Errors
Fat and Sugar Metabolism During Exercise in Patients With Metabolic Myopathy
This study aims to characterize the pathophysiological mechanisms of 21 different metabolic myopathies. The study will focus on exercise capacity and the metabolic derangement during exercise.
- Conditions
- Metabolism, Inborn Errors, Lipid Metabolism, Inborn Errors, Carbohydrate Metabolism, Inborn Errors, Long-Chain 3-Hydroxyacyl-CoA Dehydrogenase Deficiency
- Trial name
- NCT02635269
- Testing
- Sugar
- Where
- Denmark
- Volunteers
- 60 people, healthy volunteers welcome
- Sponsor
- Copenhagen University Hospital, Rigshospitalet
PGM1-CDG - Phosphoglucomutase 1-Related Congenital Disorder of Glycosylation
Evaluating the Efficacy and Safety of D-galactose in PGM1-CDG (AVTX-801)
This is a clinical trial to evaluate the efficacy of AVTX-801 (D-galactose) on the clinical manifestations of PGM1-CDG in participants currently taking D-galactose.
- Trial name
- AVTX-801 (NCT05402332)
- Testing
- AVTX-801
- Where
- United States
- Volunteers
- 8 people
- Sponsor
- Eva Morava-Kozicz
Glycogen Storage Disease, Type 14
Study of ORL-1G (D-galactose) in Patients With Glycogen Storage Disease Type 14
Study of ORL-1G in Patients With Glycogen Storage Disease Type 14
- Trial name
- NCT03404856
- Testing
- ORL-1G - D-galactose
- Where
- Turkey (Türkiye)
- Volunteers
- 5 people
- Sponsor
- Orpha Labs