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Pharmacokinetics of Oral Calcium Carbonate in Parturients
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…
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…
A Single Dose Study to Evaluate the Pharmacokinetics of Oxycodone and PF614 When PF614 Capsule is Co Administered With Nafamostat as a Combination IR Solution and ER Capsule Formulation in Healthy Subjects
A single dose dose study to assess the pharmacokinetics (PK) of oxycodone, when PF614 is administered alone and with nafamostat as an immediate-release (IR) so…
Low Field Magnetic Resonance Imaging Assessment With Outpatients
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 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…
Clinical and Genetic Evaluation of Patients With Undiagnosed Disorders Through the Undiagnosed Diseases Network
Without an explanation for severe and sometimes life-threatening symptoms, patients and their families are left in a state of unknown. Many individuals find th…
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
A Randomized Trial of Chatbot for Prenatal Genetic Counseling
During pregnancy, all pregnant people are offered tests to look for genetic conditions in the baby. However, there isn't a standard way of giving this informat…