Hermansky-Pudlak syndrome 1

This phase 2 trial tests whether the drug itacitinib, given with standard care, can prevent graft-versus-host disease (GVHD) in people who receive a donor stem cell transplant for blood cancers. GVHD happens when the donor cells attack the patient's body. The study includes 31 ad…

This study offers voluntary screening for newborns in North Carolina to detect a wide range of rare health conditions early. Using a small blood sample already collected at birth, the program tests for dozens of disorders, including spinal muscular atrophy, cystic fibrosis, and m…

This study tests new vitamin and mineral supplements called EasiVits for children aged 1-16 with inborn errors of metabolism (IEM). These supplements have less carbohydrate and no flavor, so they can be used with different diets and kids can add their own taste. The goal is to se…

This pilot study tests whether a daily mindful music listening program is practical and acceptable for patients hospitalized after an allogeneic stem cell transplant. About 35 adults will listen to music for one hour each day using a web-based platform. The study measures how fea…

This pilot study tests whether home-based or video-supervised exercise programs are acceptable and helpful for people with chronic lung diseases like IPF, sarcoidosis, bronchiectasis, asthma, and other interstitial lung diseases. Fifty participants will be randomly assigned to on…

This study looks at whether adding art therapy to physical therapy can help children aged 5 to 18 recover emotionally and physically after a stem cell transplant. For two weeks, some children receive both art and physical therapy daily, while others get only physical therapy. Res…

This study evaluates whether artificial intelligence models can accurately interpret ROTEM blood clotting tests and recommend treatments for coagulopathy. Researchers will compare AI decisions to those of a panel of clinical experts using data from adults undergoing elective card…

This study looks for biological markers in blood and lung samples from people with idiopathic pulmonary fibrosis (IPF) and other interstitial lung diseases. The goal is to find markers that can predict how the disease will progress and to group patients into subtypes. Researchers…

This study will collect and analyze genetic data from 1000 people with suspected inherited metabolic diseases, including conditions like epilepsy and mitochondrial disorders. Researchers at Karolinska University Hospital aim to improve diagnosis by using advanced genetic testing …

This study was designed to track how COVID-19 infection might worsen the condition of people with inherited metabolic diseases (IMD). Researchers planned to collect information from French patients with IMD who had or had COVID-19 to see how often their metabolic disease got wors…

This study looks at how things in the environment and at work might affect people with interstitial lung diseases (a group of lung conditions). Researchers will ask 1,000 adults with a new diagnosis about their exposures to things like pollution, chemicals, and dust. The goal is …

This study follows 50 young men who had cancer or blood disorders as children and received treatments that can harm fertility. Some stored testicular tissue before treatment; others did not. Researchers will check their fertility through exams, ultrasounds, blood tests, and semen…

This study looks at whether artificial intelligence (AI) can match a dermatologist's diagnosis when a general practitioner sends in photos and questions about a patient's skin condition. Researchers will compare the AI's diagnosis to the dermatologist's for about 1000 adults. The…

This study aims to see if a simple, non-invasive breathing test can accurately measure the acidity (pH) in the airways, which is often abnormal in lung diseases. Researchers will compare results from this breath test with standard methods in 150 healthy volunteers and people with…

This study watches 200 people with lung, gut, or hormone diseases over time using special brain scans (PET). It aims to see how these diseases change brain activity and whether those changes can predict tumor return, spread, or survival. No new treatment is tested—just observatio…