Clinical trials: Hyperekplexia
Hyperekplexia
Hyperekplexia : Adaptative Skills and Neurodevelopmental Trajectory
Hereditary hyperekplexia is a rare neuronal disorder, caused by genetic defects leading to dysfunction of glycinergic neurotransmission.
- Trial name
- StarDev (NCT05652101)
- Testing
- collection of medical data, Vineland Adaptive Behaviour Scales (VABS2) questionnaire
- Where
- France
- Volunteers
- 40 people
- Sponsor
- Hospices Civils de Lyon
Hyperekplexia, CTNNB1 Gene Mutation
Hyperekplexia in Patients With CTNNB1 Mutation
A few years ago, a new genetic disorder (OMIM # 615075) has been associated with loss-of-function variations in the CTNNB1 gene.
- Trial name
- CTNNB1 (NCT05168969)
- Testing
- Questionnaire
- Where
- France
- Volunteers
- 10 people
- Sponsor
- Centre Hospitalier Universitaire de Saint Etienne
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
Hyperekplexia
Effects of Mutations of the Glycine Gene Associated With Hyperekplexia on Central Pain Processing
Mutations in genes affecting pain transmission start to be known, the investigators are investigating a mutation in a glycine channel, which has an influence on pain modulation.
- Trial name
- NCT01476514
- Testing
- No intervention
- Where
- Switzerland
- Volunteers
- 9 people, healthy volunteers welcome
- Sponsor
- Insel Gruppe AG, University Hospital Bern