Registres
Les registres sont la BASE de la recherche et du développement thérapeutique.
Ils sont CRITIQUES pour le progrès dans toutes les maladies rares - y compris le syndrome de Shwachman-Diamond (SDS).
Les registres sont des collections de données sur les patients. Il existe différents types de registres. Certains sont des soi-disant registres de contacts, dont l'objectif principal est de pouvoir atteindre les patients lorsque de nouvelles études de recherche, essais cliniques ou directives de traitement deviennent disponibles. D'autres registres - appelons-les registres cliniques - collectent des données cliniques détaillées (et éventuellement des échantillons biologiques tels que le sang et la moelle osseuse) pour mener des recherches. Ils peuvent collecter des données au fil du temps (données longitudinales) pour mener des études d'histoire naturelle, qui permettent ensuite de dresser un tableau de la progression naturelle de la maladie et des types de complications pouvant être anticipés, et à quel moment.
SDS Alliance poursuit activement ses efforts pour
mettre en œuvre des plateformes et des stratégies pour fédérer les registres existants et/ou former des collaborations
collecter et créer un ensemble important et puissant de données génomiques pour stimuler la recherche
ajouter les voix des patients via un nouveau hub de données mondial axé sur les patients, et
rendre toutes les données plus largement accessibles à la recherche plus large et à la communauté transnationale.
Plus de détails sur ces efforts arrivent bientôt!
La communauté SDS a la chance d'avoir à ses côtés des médecins et des chercheurs dévoués, avec plusieurs registres indépendants en Amérique du Nord, en Europe et en Asie, certains établis il y a plus de dix ans. La liste ci-dessous comprend certains des registres cliniques qui acceptent actuellement de nouveaux patients atteints de SDS et ont des projets de recherche axés sur le SDS.
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
Registres qui acceptent actuellement de nouveaux patients SDS
Trié par ordre alphabétique inverse.
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