Registries & Clinical Trials
Registries are the BASIS for research and therapy development. They are CRITICAL for progress in clinical care and therapy development.
We encourage all patients and families to participate in all registries available in their region!
See a list of registries below.
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.
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.
SDS Alliance has been actively pursuing efforts to
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implement platforms and strategies to unite the existing registries and/or form collaborations
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collect and build a large, powerful set of genomic data to drive research
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add patient voices through a new, patient-driven, global patient survey and collaboration platform (data hub), and
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make all data more widely available to the larger research and transnational community.
We are excited to announce that the program has come to live and is open for enrollment!
SDS-GPS: a unique patient-owned and directed global effort
Registries from around the world that include SDS patients
Sorted in reverse alphabetical order.
United States
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.
Website:
Email:
Phone:
(617)-355-4685 and (513) 803-7656
United States
NIH NCI Inherited Bone Marrow Failure Study
The NCI IBMFS Cohort Study enrolls families that have at least one member with an IBMFS. The study includes individuals with the IBMFS, their first-degree relatives (brothers, sisters, parents, and children), as well as other relatives when appropriate. There have been many medical advances as a result of the study, including the identification of several new genetic causes of IBMFS.
Website:
Email:
Phone:
(800) 518-8474
United Kingdom
Biobank UK
SDS UK established a BIOBANK to collect patient samples. The data registry component is coming soon.
Website:
Email:
Phone:
N/A
Italy
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/
Website:
Email:
Phone:
045 812 3561
Global / International
SDS-GPS: Global Patient Survey and Collaboration Program
Global, virtual, patients self-enroll. Focused on patient reported data via surveys, available in multiple languages including English, Spanish, French, Italian, German,
Website:
Email:
Phone:
617-329-1838
Germany
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.
Website:
Email:
Phone:
+49 511 557105
France
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.
Website:
Email:
Phone:
+ 33 (0)1 44 73 60 62
Canada
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.
Website:
Email:
Phone:
N/A
Australia
Aplastic Anaemia and other bone marrow failure syndromes Registry (AAR)
Website:
Email:
Phone:
1800 811 326