Clinical trials: Pompe Disease (Infantile-Onset)
Pompe Disease, Pompe Disease (Late-onset)
MSOT in Pompe Disease
In patients with Pompe disease (PD) a progressive abnormal lysosomal glycogen storage in muscle tissue leads to impaired muscle function and to degeneration of muscle fibers.
- Conditions
- Pompe Disease, Pompe Disease (Late-onset), Pompe's Disease Juvenile Onset, Pompe Disease Infantile-Onset
- Trial name
- SPOT_PD (NCT05083806)
- Testing
- Multispectral Optoacoustic Tomography
- Where
- Germany
- Volunteers
- 20 people, healthy volunteers welcome
- Sponsor
- University of Erlangen-Nürnberg Medical School
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
Glycogen Storage Disease Type II-Pompe's Disease
A Study to Assess Safety and Efficacy of Avalglucosidase Alfa Administered Every Other Week in Pediatric Patients With Infantile-onset Pompe Disease Previously Treated With Alglucosidase Alfa
This is a multi-stage, phase 2, open-label, multicenter, multinational, ascending dose cohort, repeated intravenous (IV) infusion study of avalglucosidase alfa in pediatric patients with Infantile-Onset Pompe Disease (IOPD) who…
- Trial name
- Mini-COMET (NCT03019406)
- Testing
- Avalglucosidase alfa (GZ402666), Alglucosidase alfa (GZ419829)
- Where
- 12 sites in United States, France and 3 more
- Volunteers
- 22 people, healthy volunteers welcome
- Sponsor
- Genzyme, a Sanofi Company