Registry Study for Shwachman-Diamond Syndrome and Similar Conditions to Improve Understanding and Treatment

What this Trial Is About

Shwachman-Diamond syndrome SDS is a rare genetic disorder that involves bone marrow failure, multiple medical complications, and an increased risk of leukemia. Patients with SDS-Like syndromes show similar clinical features but do not have mutations in known SDS genes. Due to the rarity of these conditions, there is limited information on their natural history, clinical outcomes with current treatments, and overall management. The SDS Registry was established to collect clinical data and biological samples to better understand these diseases and support the development of improved treatments. The registry collects data from medical records and biological samples such as blood, bone marrow, skin cells, saliva, or discarded clinical materials. Samples are collected during routine clinical care, so participants do not need extra visits or procedures. Family members of patients can also contribute blood samples. The registry is managed by Boston Childrens Hospital and Cincinnati Childrens Hospital Medical Center and maintains all information securely in a HIPAA-compliant database. Participants provide their medical information and samples over a long period, up to 50 years. The research team studies the natural history, medical complications, treatment outcomes, and genetic causes of SDS and SDS-Like conditions. Education is also provided for patients, families, and the medical community about diagnosis and management. No personal information is shared outside the research team, and there are no interventions or treatments assigned as this is an observational study.

Shwachman Diamond Syndrome Registry and Study