Registries are the BASIS for research and therapy development. They are CRITICAL for progress in any rare diseases - including 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 or clinical trials 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 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 a large, powerful set of genomic data to drive research
add in patient voices through a new, patient driven, global registry, 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 registries that currently accept new SDS patients.
Registries that currently accept new SDS patients
Sorted in reverse alphabetical order
Shwachman-Diamond Syndrome Registry (SDSR)
Clinical registry, collects clinical data and biological samples. Two sites: Boston Children's Hospital and Cincinnati Children's Hospital. Contact the site you are more likely to visit. In person visits are NOT required.
(617)-355-4685 and (513) 803-7656
SDS UK established a BIOBANK to collect patient samples. The data registry component is coming soon.
TBD. Contact SDS UK for details: sdsuk.org
Registro Italiano per la Sindrome di Shwachman-Diamond (RISDS)
Clinical Registry, collects both data and biological samples. Is supported by the Italian Patient Support Group AISS http://www.shwachman.it/
045 812 3561
Severe Chronic Neutropenia International Registry (SCNIR)
SCNIR Europe serves Germany and several other countries in Europe and beyond, and registers SDS patients along with many other neutropenia patients. Shwachman Diamond Syndrom Deutschland, the German SDS patient group, support their efforts.
+49 511 557105
French congenital neutropenia registry
This registry includes patients with several types of severe chronic neutropenia, including SDS patients. The initial objective at the time of its creation is to ensure pharmacovigilance of the G-CSF received by these patients. It had nevertheless been designed as a disease registry, rather than a "post-marketing" treatment registry. The cases are identified from clinical records obtained from pediatric hematology or general and specialist pediatric departments. These centers are consulted by telephone, post or onsite monitoring. Genetics laboratories are also contacted and a work meeting is organized with them on a regular basis.
+ 33 (0)1 44 73 60 62
Canadian Inherited Marrow Failure Registry (CIMFR)
For anyone with a bone marrow failure or myelodysplasia which is congenital or inherited, including SDS. They gather data from medical records and also act as a biobank. Can assist with diagnostics.