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Responses to Genetic Risk Modifier Testing Among Women With BRCA1/2 Mutations
The purpose of this study is to describe how women with BRCA1/2 mutations react to genetic risk modifier testing, and to examine how they make decisions about …
Whole Exome Sequencing and Whole Genome Sequencing for Nonimmune Fetal/Neonatal Hydrops
Brief Summary: Nonimmune hydrops fetalis (NIHF) is a potentially fatal condition characterized by abnormal fluid accumulation in two or more fetal compartments…
Comparing Direct and Indirect Methods for Cascade Screening in Familial Hypercholesterolemia (FH) and Long QT Syndrome (LQTS)
An important aspect of successful genomic medicine implementation is developing effective approaches for screening at-risk family members after probands are id…
Towards Bridging Generalists to Subspecialists With Large Language Models
This study evaluates the impact of large language models (LLMs) versus traditional decision support tools on clinical decision-making in cardiology. General ca…
A Phase I/II Randomized, Double-Blind, Placebo-Controlled Trial to Evaluate the Safety and Potential Efficacy of XVIE Injected Intradermally in Patients With Androgenetic Alopecia
This study tests whether XVIE, an investigational injectable product made from processed human amniotic fluid, is safe and may help regrow hair in adults with …
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…
The Natural History of Arrhythmogenic Cardiomyopathy With Pathogenic Plakophilin-2 Variants (PKP2-ACM): An Observational Cohort Study
The goal of this study is to describe the natural history and clinical events for patients who have Arrhythmogenic Cardiomyopathy with Pathogenic Plakophilin-2…
Whole Exome and Whole Genome Sequencing for Genotyping of Inherited and Congenital Eye Conditions
Objective: The objective of this study is to identify genetic causes of inherited eye conditions through whole exome or whole genome sequencing (referred to as…
Using Behavioral Economics and Implementation Science to Advance the Use of Genomic Medicine Utilizing an EHR Infrastructure Across a Diverse Health System
Given the expansion of indications for genetic testing and our understanding of conditions for which the results change medical management, it is imperative to…
MyeloGen: Germline Testing for Predisposition to Myeloid Malignancies
The goal of this research study is to evaluate the feasibility of germline genetic testing using the investigational MyeloGen Gene Panel in adult participants …
Iomab-ACT: A Pilot Study of 131-I Apamistamab Followed by CD19-Targeted CAR T-Cell Therapy for Patients With Relapsed or Refractory B-Cell Acute Lymphoblastic Leukemia or Diffuse Large B-Cell Lymphoma
This is a pilot study; patients will receive 131-I apamistamab prior to CAR T-cell infusion in order to determine the maximum tolerated dose of 131-I apamistam…
Bundled Cancer Screening and Genetic Services Navigation
The goal of this study is to test bundled familial cancer risk assessment + multicancer (colorectal + breast) vs. single (breast) cancer navigation, using a wa…