Inherited thrombocytopenia

This early-stage trial tests UX016, a drug designed to help people with GNE myopathy, a rare genetic muscle-weakening disease. Researchers will give the drug or a placebo to 24 adults to see if it is safe and improves muscle strength. The study is not yet recruiting.

This phase IIa trial tests whether FT1, a lab-made version of a natural gut hormone, is safe and helps reduce fluid loss in adults with short bowel syndrome. Participants receive weekly injections of FT1 or a placebo for five weeks. The study measures changes in stool weight and …

This study tracks 50 children and adults with non-malignant disorders like immune deficiencies and anemias who receive a stem cell transplant after a reduced-intensity chemotherapy regimen. The goal is to see if this approach improves survival and reduces severe graft-versus-host…

This study is testing a less intense chemotherapy and radiation regimen before a stem cell transplant for children and young adults up to age 55 with non-cancerous blood disorders like immune deficiencies, anemias, and metabolic diseases. The goal is to see if this gentler prepar…

This study monitors 40 people in Japan with congenital thrombotic thrombocytopenic purpura (cTTP) who are receiving ADZYNMA (recombinant ADAMTS13) as part of their routine care. Researchers will track side effects and check if the drug improves platelet counts and ADAMTS13 activi…

This natural history study follows up to 4,000 people with inherited bone marrow failure syndromes (IBMFS) and their families to learn why they are prone to certain cancers. Researchers will track health over time, collect genetic samples, and look for clues that separate those w…

This study aims to learn more about Hermansky-Pudlak Syndrome (HPS), a rare inherited disease that causes light skin/eye color, bleeding problems, and often deadly lung scarring. Researchers will follow 600 people with HPS and their family members to track how the disease progres…

This study aims to learn more about Chediak-Higashi syndrome, a rare genetic disorder that causes light skin and hair, easy bruising, and frequent infections. Researchers will observe up to 60 patients over time, collecting clinical and genetic data to better understand the disea…

This study looks at the real-world safety of Adzynma, a lab-made protein, in people with congenital thrombotic thrombocytopenic purpura (cTTP), a rare inherited blood disorder. Researchers will review medical records of about 50 children and adults to see how many develop allergi…

This study looks at whether regular cannabis users can adjust how much they vape when using high-potency concentrates (30%, 60%, and 90% THC). Researchers will measure blood THC levels, puffing behavior, and subjective feelings of intoxication. The goal is to understand if people…

This study collects blood, bone marrow, and other samples along with health information from up to 1,716 people with non-cancerous blood diseases and their family members. Researchers will analyze the participants' genes to find new genetic causes of these conditions and understa…

This study looks at how a natural citrus compound called d-limonene affects the body's response to THC, the main psychoactive ingredient in cannabis. Researchers will give healthy adults oral doses of THC, d-limonene, or both, and measure their feelings of drug effect and liking.…

This study looks at how CBD and THC, two compounds found in cannabis, affect inflammation and brain health in people with HIV. About 90 participants will take both substances in a random order over six weeks. Researchers will measure blood markers and brain function to better und…

This study looks for substances in the blood that might be linked to fatigue in people with low platelet counts (thrombocytopenia). Researchers think a protein called BDNF, which is stored in platelets, could play a role. They will measure BDNF levels in 280 patients and healthy …

This study looks at what happens when people who regularly use both marijuana and tobacco use them together. Researchers will measure how much THC and nicotine get into the blood and how the body responds. The goal is to better understand the health effects of using both substanc…

This study is testing whether different doses of cannabidiol (CBD) can reduce the psychoactive effects of THC in healthy adults who use cannabis occasionally. One hundred participants will inhale various combinations of CBD and THC and report their experiences. The goal is to fin…

This study looks at how THC, the active ingredient in cannabis, temporarily affects memory, learning, and balance in adults aged 21 to 55 who have used cannabis before. Ten participants will complete memory tasks and balance tests inside an fMRI scanner after taking either THC or…