Disorder of lysosomal-related organelles

This study tests a donor stem cell transplant for people with severe immune system problems, like SCID and Wiskott-Aldrich syndrome. The goal is to help the body make healthy blood cells and fight infections. Participants receive donated stem cells to rebuild their immune system.…

This program provides early access to an experimental drug called CNM-Au8 for people with amyotrophic lateral sclerosis (ALS), a progressive nerve disease. Participants must be 18 or older and have a confirmed ALS diagnosis. The goal is to offer treatment to those who cannot join…

This study tests a stem cell transplant using a milder chemotherapy-like regimen to treat children and young adults (up to age 28) with various immune system disorders. The goal is to help the donor stem cells settle in the body with fewer side effects. The study involves 20 part…

This study provides an experimental stem cell treatment (HB-adMSCs) to an 83-year-old man with Primary Lateral Sclerosis, a rare nerve disease that causes progressive muscle weakness. The patient's own banked stem cells are used, aiming to slow the disease. This is a single-patie…

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 study collects and analyzes blood, DNA, and tissue samples from 315 adults with pulmonary fibrosis, their relatives, and healthy volunteers. The goal is to learn more about the disease's causes, not to test a new treatment. Researchers hope the findings will guide future the…

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…