Registries

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 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 soon!

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.

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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.

Site Internet

sdsregistry.org

E-mail

Téléphoner

(617)-355-4685 and (513) 803-7656

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United Kingdom
Biobank UK

SDS UK established a BIOBANK to collect patient samples. The data registry component is coming soon.

Site Internet

TBD. Contact SDS UK for details: sdsuk.org

E-mail

Téléphoner

N/A

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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/

Site Internet

E-mail

Téléphoner

045 812 3561

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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.

Site Internet

E-mail

Téléphoner

+49 511 557105

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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.

Site Internet

E-mail

Téléphoner

+ 33 (0)1 44 73 60 62

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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.

Site Internet

E-mail

Téléphoner

N/A

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Australia
Aplastic Anaemia and other bone marrow failure syndromes Registry (AAR)

Site Internet

E-mail

Téléphoner

1800 811 326