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22 recruiting studies matching your filters
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…
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…
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…
Characterization of the Natural History of Leukoencephalopathy With Brainstem and Spinal Cord Involvement and Lactate Elevation
In this study, we will conduct retrospective chart and imaging reviews and prospective longitudinal virtual assessments of individuals with LBSL.
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…
An Exploratory Study of the Genetics, Pathophysiology, and Natural History of Autoinflammatory Diseases
This study is designed to explore the genetics and pathophysiology of diseases presenting with intermittent fever, including familial Mediterranean fever, TRAP…
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…
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…
Application of a Systematic Developmental Assessment to a Novel Population: Infants With Rare Genetic Disorders
The main objective of this study is to apply a well-established model of developmental surveillance (which evolved to characterize the outcomes of very low bir…
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…
Genetic Disorders of Obesity Program Database
This study collects data on children with severe, early-onset obesity.
A Phase 3b Study to Evaluate Efficacy and Safety of a Single Dose of Autologous CRISPR Cas9 Modified CD34+ Human Hematopoietic Stem and Progenitor Cells (CTX001) in Subjects With Transfusion-Dependent β-Thalassemia or Severe Sickle Cell Disease
This is a single-dose, open-label study in participants with transfusion-dependent β-thalassemia (TDT) or severe sickle cell disease (SCD). The study will eval…