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23 recruiting studies matching your filters
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.
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…
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…
An Adaptive Clinical Trial of BeginNGS Newborn Screening for Hundreds of Genetic Diseases by Genome Sequencing
The goal of this clinical trial is to test a new method for newborn screening using whole genome sequencing, called BeginNGS. Parents will be approached to pro…
Delineating the Molecular Spectrum and the Clinical, Imaging and Neuronal Phenotype of Chopra-Amiel-Gordon Syndrome
The purpose of this study is to establish the longitudinal natural history of individuals with confirmed or suspected Chopra-Amiel-Gordon Syndrome (CAGS) to le…
Investigating Hereditary Risk In Thoracic Cancers (INHERIT)
The purpose of this research study is to learn more about the inherited risk for developing lung cancer.
Follow-up With Preimplantation Genetic Testing Patients
The main purpose of this study is to perform longitudinal evaluations of clinical outcomes and personal perspectives following utilization of preimplantation g…
Ending the Diagnostic Odyssey: Whole Genome Sequencing (WGS) to Identify Genetic Determinants of Previously Undiagnosed Disease in Children
The goal of this collaborative research is to study human genomes in children with suspected congenital disease, multiple-congenital anomalies and/or multi-org…
Genomic Biorepository: Protocol for the Collection, Storage, Analysis, and Distribution of Biological Samples, Genomic and Clinical Data
Rady Children's Institute for Genomic Medicine (RCI) will collect biological samples (such as blood), derived genomic sequences (from DNA and RNA), and clinica…
STXBP1 and SYNGAP1 Related Disorders (RD) Natural History Study
The purpose of this study is to find out more about STXBP1 and SYNGAP1 related disorders. The information gathered by this study will be used to prepare for cl…
A Patient Registry and Natural History Study of Patients with Biallelic HPDL Mutations
This study uses medical records that allow retrospective data extraction of clinical manifestation to assess the natural history of HPDL mutations