Clinical trials: Hyperinsulinism-Hyperammonemia Syndrome
Seizures, Hypoglycemia
Blood Sugars in Children With Idiopathic Seizures.
The purpose of this study is to determine if there is a significant percentage of children with the diagnosis of idiopathic seizures who have undiagnosed or unrecognized hypoglycemia (low blood sugar).
- Conditions
- Seizures, Hypoglycemia, Hyperammonemia
- Trial name
- NCT00279851
- Where
- United States
- Sponsor
- Children's Mercy Hospital Kansas City
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
Congenital Portosystemic Shunt, CPSS (Congenital Portosystemic Shunt)
International Registry of Congenital Portosystemic Shunt (IRCPSS)
Congenital Portosystemic Shunt (CPSS) is a rare condition important by the multiplicity and severity of associated complications.
- Trial name
- IRCPSS (NCT06041906)
- Testing
- Shunt Closure
- Where
- 26 sites in United States, Australia and 14 more
- Volunteers
- 500 people
- Sponsor
- Prof. Valérie Mc Lin
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
Hyperinsulinism-Hyperammonemia Syndrome
Vitamin E Efficacy in HI/HA
Congenital hyperinsulinism (HI) is a rare disorder of pancreatic beta cell insulin secretion that causes persistent and severe hypoglycemia starting at birth.
- Trial name
- NCT04984798
- Testing
- Vitamin E
- Where
- United States
- Sponsor
- Children's Hospital of Philadelphia
Hyperinsulinism-Hyperammonemia Syndrome
Vitamin E Supplementation in Hyperinsulinism/Hyperammonemia Syndrome
Investigators will assess the tolerability of oral Vitamin E supplementation in subjects with congenital hyperinsulinism (HI) and hyperammonemia (HA) syndrome.
- Trial name
- NCT03797222
- Testing
- Vitamin E
- Where
- United States
- Volunteers
- 14 people
- Sponsor
- Elizabeth A Rosenfeld