Registries are the BASIS for research and therapy development. They are CRITICAL for progress in any rare diseases - including Shwachman-Diamond Syndrome (SDS).
Registries are collections of patient data. There are different types of registries. Some are so-called contact registries, where the primary purpose is to be able to reach patients when new research studies, clinical trials, or treatment guidelines become available. Other registries - let's call them clinical registries - collect detailed clinical data (and optionally biological samples such as blood and bone marrow) to conduct research. They may collect data over time (longitudinal data) to conduct natural history studies, which then builds a picture of how the disease progresses naturally and what kinds of complications can be anticipated and when.
SDS Alliance is actively pursuing efforts to
implement platforms and strategies to unite the existing registries and/or form collaborations
collect and build a large, powerful set of genomic data to drive research
add in patient voices through a new, patient driven, global data hub, and
make all data more widely available to the larger research and transnational community.
More details about these efforts are coming later this year (2020).
The SDS community is fortunate to have dedicated physicians and researchers on our side, with several independent registries in North America, Europe, and Asia, some established over a decade ago. The list below includes some of the clinical registries that currently accept new SDS patients and have SDS focused research projects.
Registries that currently accept new SDS patients
Sorted in reverse alphabetical order.