The North American Shwachman Diamond Syndrome Registry (SDSR)
Director: Akiko Shimamura, MD PhD
Co-Director: Kasiani Myers, MD
Shwachman Diamond syndrome (SDS) is a rare, inherited disorder characterized by low blood counts, increased risk of leukemia, and digestive problems due to malfunction of the pancreas. While the majority of patients present with symptoms in childhood, increasing numbers of adults are diagnosed with SDS due to improved awareness of this syndrome. Typical symptoms may include frequent infections, low energy/fatigue, increased bruising or bleeding, frequent loose bowel movements, and poor growth. Some people with SDS have additional symptoms such as those involving the bones, liver, immune system, heart, eczema, and other organ systems. However, some people with SDS may lack apparent symptoms for a long time. Early diagnosis allows treatment prior to the development of irreversible complications.
Since SDS is a rare disorder, limited information is available to guide diagnosis, medical management, and treatment. To address this gap and improve the health of patients with SDS, the North American Shwachman Diamond Syndrome Registry (SDSR) was established in December of 2008 to collect clinical information and samples from people affected with SDS and their families. The SDSR was first headquartered at the Fred Hutchinson Cancer Research Center and later moved to Boston Children’s Hospital in collaboration with Cincinnati Children’s Hospital and Medical Center.
How to Participate in the SDSR
Patients interested in participating in the SDSR should contact the SDSR (see Contact Us). After the signed consent form is received by the SDSR, the participant is enrolled in the SDSR.
Information about SDS is obtained from medical records, laboratory results, pathology reports, and a questionnaire submitted by participants.
When patients are having blood or marrow samples obtained as part of their clinical care, they may send a sample to the SDSR using pre-addressed/stamped mailers we will provide. These samples are critical to understand what causes SDS and to develop better treatments.
The SDSR also collects information shared by family members regarding deceased individuals with SDS or SDS-Like disorders.
The Shwachman-Diamond Syndrome Registry is a unique resource that promotes science and discovery to improve the diagnosis and treatment of children and adults with Shwachman-Diamond Syndrome.
For more information about published and ongoing research about Shwachman-Diamond Syndrome, please visit our research page: http://sdsregistry.org/research/