Shwachman Diamond Syndrome Registry and Study

Shwachman-Diamond syndrome (SDS) is a genetic condition characterized by bone marrow failure, medical co-morbidities, and leukemia predisposition. SDS-Like patients share clinical features with SDS but lack mutations in known SDS genes. Since SDS/SDS-Like syndromes are rare diseases, data are sparse regarding the clinical features, natural history, clinical outcomes with current management, and treatment. For this reason, the SDS Registry was formed to collect clinical data from medical records and to bank biological samples with the goal of understanding SDS/SDS-Like diseases to develop better treatments and improve the health of patients with these conditions.

The Shwachman-Diamond Syndrome Registry (SDSR) is dedicated to accelerating research and treatment for SDS to improve survival and quality of life for all patients with the disease. The SDSR is run jointly by Boston Children's Hospital and Cincinnati Children's Hospital Medical Center. Objective and Aims: The long term goals of the Registry are to improve diagnosis, inform medical management, and to develop better treatments for SDS and SDS-Like disorders. To achieve these objectives, the Registry has the following specific aims: * Characterize the natural history, medical complications, and treatment outcomes for patients with SDS and SDS-Like disorders. * Investigate the molecular and genetic pathogenesis of SDS/SDS-Like conditions and their complications such as marrow failure and clonal evolution. * Identify new genes causing SDS/SDS-Like conditions. * Provide education on the diagnosis, medical management and treatment of SDS for patients, families and the medical/scientific community. Methods: The SDSR collects information from medical records and biological samples. Samples for the SDSR are collected when they are obtained for clinical care so that no extra visits or procedures are needed. These samples may include blood, bone marrow, skin cells, saliva, or discards from other clinical procedures. Family members may also contribute blood samples. All information obtained by the SDSR is housed on a secure, HIPAA-compliant database. No personal information is shared outside of the study team.