DYSKERATOSIS CONGENITA

This study tests a stem cell transplant using milder chemotherapy for people with certain immune deficiencies or bone marrow failure. The goal is to see if donor cells can take over the bone marrow and restore a working immune system. About 27 participants will be enrolled, and t…

This study tests a special stem cell transplant that removes certain immune cells to lower the need for strong anti-rejection drugs. It is for people with inherited bone marrow failure disorders like Fanconi anemia. The goal is to help the immune system recover faster and reduce …

This early-stage study tests whether a combination of two natural substances (deoxycytidine and deoxythymidine) is safe for people with telomere biology disorders, which cause premature aging, bone marrow failure, and lung disease. About 36 participants will take the drug by mout…

This expanded access program offers a special stem cell processing technique (CD34+ selection) to patients with severe combined immune deficiency, Fanconi anemia, dyskeratosis congenita, or sickle cell disease who are receiving a stem cell transplant. The method removes certain i…

This study looks at why people with certain rare bone marrow conditions (like Fanconi anemia) have a higher chance of getting cancer. Researchers will follow up to 4,000 participants and their family members over time to track cancer rates and find genetic or environmental risk f…

This study collects blood, bone marrow, and other samples from people with non-cancerous blood diseases and their family members. Researchers will analyze genes to find causes of these diseases and why some people get sicker than others. The goal is to improve future diagnosis an…

This research study aims to discover new genes that may increase the risk of childhood cancer. Researchers will collect blood samples and health information from 1,500 people in families where cancer clusters. The goal is to build a registry and sample bank to help future diagnos…