Disorder of lysosomal-related organelles

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 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 aims to collect DNA samples and detailed eye exam data from 1,000 people with rare inherited eye diseases like aniridia, Best disease, and albinism. Participants provide a saliva or blood sample and share their eye health records. The goal is to expand a research repos…

This study is building a large database of health information from 5,000 people with ALS and other motor neuron diseases. Participants share details like symptoms, test results, and disease progression during regular clinic visits. The de-identified data is then shared with resea…