Registry Working Party
Registry WP - Newsletter August 2016
by Nizar Mahlaoui
The Registry is one of the major components of our Society. You can find more information here: http://esid.org/Working-Parties/Registry
Together with the Registry WP-Steering Committee Elect (Bodo Grimbacher, Germany - Isabella Quinti, Italy - Matthew Buckland, United Kingdom - Markus Seidel, Austria - Joris van Montfrans, The Netherlands) and Mrs. Jose Drabwell, IPOPI President, along with Gerhard Kindle, Stephan Rusch and Raphael Schmidt (the IT team in Freiburg University), I am pleased to share this news with you.
There are currently 12,000 validated patients in the new platform (Level 1). Of note, the patients registered in the UK and Spanish databases are yet to be transferred in the registry, which will bring the overall figure to more than 17,000 patients.
We have achieved a considerable task in producing clinical diagnostic criteria for ensuring that patients lacking a genetic documentation meet the disease definitions set and reviewed by international experts in the field.
These criteria are to be used for registration purposes and are aimed at bringing the ESID Registry to the best level of quality (esid.org/Working-Parties/Registry/Diagnosis_Criteria). Genetic diagnosis has now reached 63% of all registered patients (vs. 70% without a molecular confirmation in 2014 in the ‘old’ registry)!
The designed platform of the Registry is as follows:
- Level 1 > Basic epidemiological features > Yearly updates on survival and treatment.
- Level 2 > More detailed clinical and laboratory information for certain disease categories > Centers can choose to participate according to their resources for documentation and scientific interests (unrestricted grant by Baxalta/Shire).
- Ab deficiencies, to be open soon
- In the near future, Ataxia-Telangiectasia and Combined Immunodeficiency will be implemented.
- Level 3 > Platform for projects targeting individual diseases in even more detail > Defined endpoint (number of patients and/or period of observation) Opportunities for industry collaborations
- APDS (Novartis-GSK-UCB)
- Unclassified Predominantly Ab Deficiency (PI : E. de Vries, unrestricted grant by PPTA)
- FIGARO (HyQVia sub-registry — funded by Baxalta/Shire)
- EU SCID Newborn screening study (in collaboration with the IEWP WP- Andy Gennery, the Clinical WP-Despina Moshous and Bobby Gaspar with Carsten Speckmann)
- Potentially, HLH regsitry (with the Histiocyte Society)
Roll-out to other countries:
We have provided India (Chandigarh) & Singapore (on behalf of the Asia-Pacific Society for ImmunoDeficiencies-APSID) with the ESID Registry software. It will help in building fruitful interactions and collaborative international studies in the future. We also have received inquiries from Brasil, Japan and Peru to participate in the APDS Study.
- New fields have been added to the Registry to later be able to contact the lab that performed genetic analyses. More than 80 genetics labs have been included.
- New developments are under consideration with the ESID Genetic WP.
Papers using or highlighting the ESID Registry since the previous NewsLetter:
- Schatorjé EJ et al. J Clin Immunol. (2016)
The Challenge of Immunoglobulin-G Subclass Deficiency and Specific Polysaccharide Antibody Deficiency - a Dutch Pediatric Cohort Study. (PMID: 26846287)
- Jandus P et al. Rev Med Suisse (2016)
[Understanding primary immunodeficiencies: usefulness of a register].[Article in French] (PMID: 27197327)
- Pac M, Bernatowska E. Eur J Pediatr. (2016)
Comprehensive activities to increase recognition of primary immunodeficiency and access to immunoglobulin replacement therapy in Poland.
- Fischer A. and the French PID Reference Center (CEREDIH). Submitted.
The frequent occurrence of autoimmunity and inflammation in primary immunodeficiencies – An apparent paradox.
- De Vries E. et al. Submitted.
Primary immunodeficiency associated with chromosomal aberration - an ESID Survey
Finally, during the next Biennial meeting in Barcelona, more than 15 abstracts using or highlighting the ESID Registry have been accepted as posters or oral communications.
We are all very much welcome to attend the ESID Registry Workshop with selected oral presentations.
Thank you to all contributors to the ESID Registry.
Hope you all have a nice summer holidays
Looking forward to seeing you the next ESID2106 biennial meeting in Barcelona.
ESID Registry WP Chairman,
on behalf of the ESID Registry WP Steering Committee.
Information and resources are available here: http://esid.org/Working-Parties/Registry
a. New ESID Registry
b. Diagnosis criteria
c. Registry publications
f. Steering Committee
g. Documenting centers
h. Old Registry
i. ESID Database Statistics
j. Informed patient consents
k. Contact info
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