Registries to Join

SDSF encourages every patient with SDS to participate in any or all of the following registries. The more data that is available to doctors and researchers, the faster they can help with diagnosis, treatments, and hopefully a cure!

Click the link to each study below to learn more!

SDS Registry

The Shwachman-Diamond Syndrome (SDS) Registry is committed to accelerating the pace of discovery for treatments and therapies of SDS.  The Registry provides access to clinical expertise as well as cutting-edge research. Patients, families, and medical professionals may contact the Registry to learn more about SDS.  

NCI/IBMFS Cohort Study – Inherited Bone Marrow Failure Syndrome Study (IBMFS)

The NCI IBMFS Cohort Study consists of affected individuals and their immediate families who have an inherited bone marrow failure syndrome (IBMFS)-either one that has been specifically identified and defined, or bone marrow failure that appears to be inherited but has no clear genetic basis.

The study includes people seen and evaluated at the NIH Clinical Center in Bethesda, MD, and many more who participate remotely. Participants provide information and samples of blood, bone marrow, or other tissues, but the majority are not seen by the team at the NIH.

Severe Chronic Neutropenia International Registry

The Severe Chronic Neutropenia International Registry (SCNIR or Registry) is a global organization dedicated to finding the causes, consequences and best treatments for severe chronic neutropenia (SCN). The SCNIR opened in 1994 after researchers discovered that the hematopoietic growth factor called granulocyte colony stimulating factor (G-CSF) is an effective treatment for SCN.


Shwachman-Diamond Syndrome Registry
Global Genese Rare Foundation Alliance
Genetic Alliance
NORD 2021 Platinum Member
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