DYSKERATOSIS CONGENITA

This trial is testing a modified bone marrow transplant procedure designed to cure patients with rare, inherited disorders where the immune system or bone marrow doesn't work properly. The approach uses a less intense pre-transplant treatment and a specific drug after the transpl…

This program provides expanded access to a special machine that filters stem cells before a transplant. The goal is to reduce a dangerous side effect called graft-versus-host disease (GVHD) by removing certain immune cells. It is for patients, including children over 1 month old,…

This early-stage trial is testing whether a combination of two oral compounds (deoxycytidine and deoxythymidine) is safe for people with rare genetic disorders called telomere biology disorders. These disorders cause very short telomeres (protective caps on chromosomes), leading …

This study is testing a modified stem cell transplant procedure for people with inherited bone marrow failure disorders like Fanconi anemia. The goal is to see if removing specific immune cells from the donor cells before transplant can reduce the risk of a serious complication c…

This study aims to understand why people with inherited bone marrow failure syndromes have a higher risk of developing cancer. Researchers will follow 4,000 participants, including patients with these rare genetic conditions and their family members, to track cancer rates and ide…

This study aims to discover new genes that cause cancer to run in families, especially those affecting children. Researchers will collect health information, blood, and sometimes leftover tumor samples from families where multiple members have had cancer. The goal is to build a l…

This study aims to collect blood, saliva, and health information from people with blood diseases and their family members to build a research library. The goal is to discover unknown genetic causes and understand why disease severity varies between people. This is a research stud…