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North American Mitochondrial Disease Consortium Patient Registry and Biorepository (NAMDC)
The North American Mitochondrial Disease Consortium (NAMDC) maintains a patient contact registry and tissue biorepository for patients with mitochondrial disor…
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…
Functional Consequences of CYP2C19 Variants on Limonene Metabolism in Humans
The investigators will examine whether a non-invasive screening tool for CYP2C19 genetic variants can be developed by measuring limonene metabolism.
Multi-National Nutritional Biobanking Program in Pediatric Oncology InterNatIonal CHildhood Leukemia Microbiome/MEtabolome Cohort
Nutritional status is a measurable and modifiable factor that is often not considered during treatment and its clinical impact undervalued due in part to the h…
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…
Barriers and Facilitators of Parent-Child Communication in Children With Cancer Predisposition
Testing children, adolescents, and young adults (CAYA) for a genetic risk for cancer can help with early prevention and detection of cancers through regular fo…
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…
Investigating Phenotypic, Epigenetic, and NeuroGenetic Traits in Rare and Ultra-rare Neurodevelopmental Disorders
Rare genetic neurodevelopmental disorders, such as Syt-1 or Baker Gordon Syndrome (BAGOS) arise from mutations in genes essential for brain development and fun…
The Effect of rs7903146 Genotype on Islet GLP-1 Production in Humans
The investigators recently demonstrated that blockade of Glucagon-Like Peptide-1's (GLP-1) receptor (GLP1R) results in changes in islet function without change…
Prospective Multicenter Natural History Study of Lipodystrophy Syndromes to Determine Prevalence, Incidence and Predictors of Diabetes and Severe Hypertriglyceridemia, and Their Complications
Genetic lipodystrophy syndromes are extremely rare, orphan diseases with overall estimated prevalence of less than 2,000 in the United States. These rare disor…
Safety and Efficacy of AAV9/AP4B1 For Patients With AP4B1-related Hereditary Spastic Paraplegia Type 47 (SPG47): A Phase 1/2 Single-Center, Open-Label Study of Stereotactic Intra-cisterna Magna Administration
Safety and Efficacy of AAV9/AP4B1 For Patients with AP4B1-related Hereditary Spastic Paraplegia Type 47 (SPG47): A Phase 1/2 Single-Center, Open-Label Study of…