Hyperekplexia

Clinical trial pipeline · Data from ClinicalTrials.gov

See which Hyperekplexia trials you may qualify for

Total trials

Actively recruiting

Phase 3 trials

Completed

Trial phase breakdown

Trial status

Actively recruiting — 1 trial

RecruitingNot Applicable

NCT05652101

Hyperekplexia : Adaptative Skills and Neurodevelopmental Trajectory

Hereditary hyperekplexia is a rare neuronal disorder, caused by genetic defects leading to dysfunction of glycinergic neurotransmission. The clinical presentat…

France40 participantsStarted 2023-04-24

Treatment: collection of medical data, Vineland Adaptive Behaviour Scales (VABS2) questionnaire

All recent trials (4 shown)

CompletedNot Applicable

NCT05687474

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. With a simple…

Belgium6,824 participantsStarted 2022-09-01

CompletedNot Applicable

NCT05168969

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. The clinical features include a…

France10 participantsStarted 2022-07-02

Treatment: Questionnaire

Terminated

Hyperekplexia

Trial phase breakdown

Trial status

Actively recruiting — 1 trial

Hyperekplexia : Adaptative Skills and Neurodevelopmental Trajectory

All recent trials (4 shown)

Baby Detect : Genomic Newborn Screening

Hyperekplexia in Patients With CTNNB1 Mutation

Trial phase breakdown

Trial status

Actively recruiting — 1 trial

Hyperekplexia : Adaptative Skills and Neurodevelopmental Trajectory

All recent trials (4 shown)

Baby Detect : Genomic Newborn Screening

Hyperekplexia in Patients With CTNNB1 Mutation

Effects of Mutations of the Glycine Gene Associated With Hyperekplexia on Central Pain Processing