Niemann-Pick disease type B

This phase 2 trial tests the drug selpercatinib in children and young adults (ages 1 to 21) with advanced cancers that have a specific genetic change called a RET alteration. The goal is to see if the drug can shrink tumors or stop them from growing. Only one participant has been…

This phase 2 trial is testing the drug larotrectinib in children and young adults (ages 1 to 21) with advanced solid tumors, non-Hodgkin lymphoma, or histiocytic disorders that have a specific genetic change called an NTRK fusion. The cancers have either come back after treatment…

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 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 aims to identify genetic, biochemical, and clinical factors linked to disease severity in people with Gaucher disease and other lysosomal storage disorders. Researchers will evaluate up to 1,000 participants, including patients, carriers, and healthy controls, to bette…

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 looks at how histiocytosis—a group of rare disorders—may affect memory, thinking, and brain structure. Researchers will test 13 adults with these conditions using thinking tasks and MRI scans. The goal is to better understand brain changes, not to provide treatment.…

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…