180 recruiting studies matching your filters
This study looks at whether genome sequencing should be used more routinely during pregnancy, even when ultrasounds look normal. Genome sequencing can examine …
This is a Phase 1, open-label, three-part, study in approximately 96 healthy adult participants between 18 and 55 years of age (both inclusive) (16 participant…
The goal of this research study is to evaluate the pathophysiologic mechanisms by which genetic variation impacts response to an FDA-approved medication common…
The purpose of the study is to determine whether pharmacologic delay using minoxidil in patients undergoing bilateral risk reducing mastectomy with reconstruct…
This is a pilot randomized controlled trial to assess the feasibility, acceptability, appropriateness, and structure of the SONATA intervention. In addition, i…
Brain blood flow will be measured during a simulated postural change test and while breathing increased levels of carbon dioxide using magnetic resonance imagi…
Epileptic spasms (ES) are a predominantly infantile seizure type observed frequently in certain genetic disorders. Ketogenic diet (high ratio of fat to carbohy…
This is a prospective, non-randomized, non-blinded observational study. The overarching goal is to discover new disease-associated genes in children, while est…
The Rett Syndrome Registry is a longitudinal observational study of individuals with MECP2 mutations and a diagnosis of Rett syndrome. Designed together with t…
The goal of this observational study is to evaluate the safety of sulbactam-durlobactam, as well as the risk of hypersensitivity reactions (including anaphylax…
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 is designed to accurately document the natural course and variation of muscle disease caused by pathogenic changes of the TNNT1 gene. The primary aim …