This is a phase 2a, multicenter, randomized, double-blind, placebo-controlled study to evaluate the safety, tolerability, pharmacokinetics (PK), and pharmacodynamics (PD) of NST-6179 in subjects with ...
The REVEAL Pediatric Study is a multi-center, Phase 1/2 open-label, dose-escalation and dose-expansion study of TSHA-102, an investigational gene therapy, in pediatric females with Rett Syndrome. The ...
The primary objective of the clinical investigation is to demonstrate successful clinical use of the ThecaFlex DRx™ System in delivering nusinersen in subjects with spinal muscular atrophy (SMA). All ...
The main purpose of this study is to investigate efficacy, pharmacokinetics and safety of the drug in pediatric participants with moderately to severely active ulcerative colitis (UC).
Overall, this observational cohort study aims too: 1. Implement rapid trio WGS for all children presenting to our health systems with epilepsy onset under 12 months of age. 2. Utilize electronic ...
Calcium Release Deficiency Syndrome (CRDS) is a novel inherited arrhythmia syndrome secondary to RyR2 loss-of-function that confers a risk of sudden cardiac death. Diagnosis of CRDS presently requires ...
The goal of this study is to test a web-based psychoeducational resource for adolescents with central disorders of hypersomnolence and their families. The investigators hope to assess the website's ...
The goal of this research study is to learn whether investigators can successfully give the PediRISE program to families-in other words, whether most families are interested in participating in a ...
The goal of this observational prospective study is to determine the health impact of parenthood on United States (US) people with CF in the era of CF transmembrane regulator protein (CFTR) modulators ...
In this research study, the investigators want to learn more about the safety and effectiveness of a fetal surgery, known as fetoscopic laser photocoagulation (FLP), for the treatment of a pregnancy ...