Clinical trials: Long QT Syndrome 3
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
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
Long QT Syndrome (LQTS) 2
Evaluation of the Efficacy and Safety of THRV-1268 in Participants With Long QT Syndrome Type 2 (LQTS2) and Type 3 (LQTS3)
The goal of this clinical trial is to learn whether the study drug THRV-1268 can safely and effectively shorten the QT interval in people diagnosed with Long QT Syndrome Type 2 (LQTS 2) and Long QT Syndrome Type 3 (LQTS 3).
- Trial name
- Wave II (NCT07277582)
- Testing
- baseline lead-in, THRV-1268
- Where
- 9 sites in United States
- Volunteers
- 84 people
- Sponsor
- Thryv Therapeutics, Inc.
Long QT Syndrome, Brugada Syndrome
Impact on Risk Stratification of Overlap Syndrome Phenotype in Patients With E1784K Mutation in SCN5A
In patients expressing the SCN5A-E1784K mutation (Glu1784Lys), cardiovascular risk is difficult to define as the stratification of these patients is challenging.
- Conditions
- Long QT Syndrome, Brugada Syndrome, Cardiac Conduction System Disease, Arrhythmias, Cardiac
- Trial name
- RISKOVER (NCT05274646)
- Where
- Reunion
- Volunteers
- 47 people
- Sponsor
- Centre Hospitalier Universitaire de la Réunion