Chediak-Higashi syndrome

This study tests whether adding the drug vorinostat to standard care can prevent graft-versus-host disease (GVHD) in children and young adults (ages 1-26) with non-cancerous blood disorders who are getting a bone marrow transplant. GVHD is a serious complication where donor cells…

This early-stage study tests a new treatment using special immune cells (CAR-T cells) designed to reduce harmful antibodies that can prevent or damage bone marrow transplants. About 18 people with blood diseases who have these antibodies will receive the cells in increasing doses…

This study tests whether starting tube feeding right after a stem cell transplant can reduce severe gut graft-versus-host disease (GVHD) in people with blood cancers or disorders. About 112 participants will be randomly assigned to either standard care or early tube feeding. The …

This study will test whether analyzing stool and urine samples using a technique called metagenomics can find infections in people with weakened immune systems (due to HIV, chemotherapy, or immunosuppressive drugs). Currently, doctors often need to take invasive samples like bloo…

This trial will test an artificial intelligence system designed to interpret routine newborn screening tests for inherited metabolic disorders. Researchers will compare the AI's accuracy to standard manual review by trained staff. The study plans to include 200,000 newborns in Ch…

This pilot study will test whether a non-invasive brain stimulation technique called transcranial alternating current stimulation (tACS) can improve working memory in 30 adults with mild cognitive impairment or traumatic brain injury. Participants will receive low-level electrica…

This study looks at how patients with primary or secondary immunodeficiency feel about using mechanical versus electronic infusion pumps for their immunoglobulin therapy. About 52 adults who have used electronic pumps will try a mechanical pump for three months and then report th…

This study looks at how people with skin conditions (like eczema, psoriasis, or skin cancer) manage stress, feel lonely, and bounce back from challenges. Researchers will compare 375 adults with and without skin disease across 15 European countries using questionnaires. The goal …

This study will test blood samples from 450 people aged 6 to 60 with inherited neuromuscular diseases to see if they have antibodies that could block gene therapy viruses (AAVs). The goal is to understand how common these antibodies are and which patients might be good candidates…

This study looks back at medical records of about 60 people with primary immune deficiencies who also developed lymphoproliferative disorders (abnormal growth of immune cells). The goal is to track their health over time, including risks of death, cancer, or organ damage. By iden…

This study looks at how children aged 6 to 18 with inborn errors of immunity (a condition where the immune system doesn't work properly) feel about their quality of life. Researchers will compare their answers to those of healthy children using a special questionnaire. The goal i…

This study aims to better understand why some people's immune cells attack their own body, causing autoimmune diseases like lupus and scleroderma. Researchers will analyze blood samples from 200 adults with these conditions to identify and measure specific harmful immune cells. T…

This 10-year observational study will follow 10,000 adults with diabetes, metabolic disorders, and related conditions like high blood pressure and fatty liver disease. Researchers will collect routine medical data to identify markers of disease severity and activity. The goal is …