181 recruiting studies matching your filters
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…
Rady Children's Institute for Genomic Medicine (RCI) will collect biological samples (such as blood), derived genomic sequences (from DNA and RNA), and clinica…
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…
To understand the acute subjective, physiological, and cognitive effects of commercial kratom extract products among US adults who consume these products regul…
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…
This study investigates the time course of change in calcium in the blood after a pregnant subject takes an oral dose of calcium carbonate (commonly marketed a…
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 investigators recently demonstrated that blockade of Glucagon-Like Peptide-1's (GLP-1) receptor (GLP1R) results in changes in islet function without change…
Genetic lipodystrophy syndromes are extremely rare, orphan diseases with overall estimated prevalence of less than 2,000 in the United States. These rare disor…
The objective of the study is to perform imaging assessments of an early stage magnetic resonance imaging (MRI) system on patients using low field magnetic str…
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…
This study uses medical records that allow retrospective data extraction of clinical manifestation to assess the natural history of HPDL mutations