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The Molecular Basis of Inherited Reproductive Disorders
Background: \- During puberty, children begin to develop into adults. Problems with the hormones released during puberty can affect the reproductive system. S…
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 …
Characterization of Brain Morphology and Activity Using Functional and Anatomical MRI Contrast
The purpose of this investigation is to develop improved magnetic resonance imaging (MRI) techniques and hardware for studying brain function. MRI is a diagnos…
A Phase 1/1b Study to Evaluate the Safety, Tolerability, Pharmacokinetics, and Immunogenicity of Single and Multiple Ascending Doses of BCX17725 in Healthy Participants and Multiple Doses of BCX17725 in Participants With Netherton Syndrome
This is a first-in-human, Phase 1/1b, 4-part study that includes the evaluation of safety, tolerability, pharmacokinetics (PK), and immunogenicity of BCX17725 …
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…
Comparison of Plasma Concentration And Efficacy Of Liposomal Bupivacaine And Plain Bupivacaine After Intercostal Injections For Pain Management After Thoracoscopy
The purpose of this study is to assess pharmacokinetics of liposomal bupivacaine (Exparel) after multilevel intercostal injections of this local anesthetic for…
A Phase 2 Study Evaluating the Efficacy and Safety Agent AUR103 Calcium in Patients With Advanced, Well or Moderately Differentiated Neuroendocrine Tumours (BHARAT-3)
A phase 2 Study Evaluating the Efficacy and Safety of Single Agent AUR103 Calcium in Patients with Advanced, Well or Moderately differentiated Neuroendocrine T…
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…