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Phase 1 Study of Ketogenic Diet for Prevention of Epileptic Spasms in Infantile Onset Genetic Epilepsies
Epileptic spasms (ES) are a predominantly infantile seizure type observed frequently in certain genetic disorders. Ketogenic diet (high ratio of fat to carbohy…
Genetic Regulators of Metabolism and Development in Children
This is a prospective, non-randomized, non-blinded observational study. The overarching goal is to discover new disease-associated genes in children, while est…
Rett Syndrome Real World Data Observational Registry
The Rett Syndrome Registry is a longitudinal observational study of individuals with MECP2 mutations and a diagnosis of Rett syndrome. Designed together with t…
Partnering to Impact Testing in the Commonwealth for Hereditary Cancers (PITCH)
The goal of this clinical trial is to assess patients' knowledge and attitudes about genetic testing before and after viewing an educational video. The main qu…
Pharmacogenomic Contribution to the Biotransformation of Trihexyphenidyl and Development of a Precision Dosing Model for Children With Dystonia and Cerebral Palsy
This study looks at how a medicine called trihexyphenidyl works in children with dystonic cerebral palsy. The study aims to understand how trihexyphenidyl is b…
WiTNNess: An International Natural History Study of Autosomal Recessive TNNT1 Myopathy
WiTNNess is designed to accurately document the natural course and variation of muscle disease caused by pathogenic changes of the TNNT1 gene. The primary aim …
Rifampin to Reduce Elevated Levels of Blood and Urine Calcium in Patients With Inactivating Mutations in the CYP24A1 Gene
This study evaluates the efficacy of rifampin in the treatment of hypercalcemia and/or hypercalciuria in participants with at least one inactivating mutation o…
Outcomes of Health Care Transition for AYA With a Cancer Predisposition
This observational study evaluates whether adolescents and young adults (AYAs) with a cancer predisposition syndrome (CPS) establish and maintain adult health …
A Phase I/II, Non-Randomized Study of the Safety and Efficacy of In Utero Hematopoietic Stem Cell Transplantation for the Treatment of Fanconi Anemia in Affected Fetuses
The investigators aim to evaluate the safety and efficacy of in utero hematopoietic stem cell transplantation (IUHSCT) for the treatment of fetuses diagnosed w…
UW Undiagnosed Genetic Diseases Program
The primary purpose of this study is to discover new disease genes for rare Mendelian disorders and its secondary purpose include diagnosing people with rare g…
Video Education With Result Dependent dIsclosure
The overall study objective of this trial study is to identify and evaluate strategies to improve the accessibility of the video education with result dependen…
A Phase 3, Randomized, Double-Blind, Placebo-Controlled Study to Investigate the Efficacy, Safety, and Tolerability of DYNE-251 Administered Intravenously in Ambulatory Male Participants 4 to 18 Years of Age With Duchenne Muscular Dystrophy Amenable to Exon-51 Skipping
The purpose of the study is to assess the efficacy, safety, and tolerability of zeleciment rostudirsen (DYNE-251) administered intravenously (IV) every 4 weeks…