Registry Working Party
Registry WP - Newsletter April 2017
by Nizar Mahlaoui
The Registry is one of the major components of our Society.
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.
1. Since the overhaul of the ESID Registry, there are currently more than 15,000 validated patients in the new platform (Level 1), including the patients registered in the UK. Spanish database is yet to be transferred in the registry, which will bring the overall figure to more than 17,000 patients.
2. 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). There are still some PID diagnoses lacking these criteria. You’re welcome to apply to draft these and have these reviewed.
3. Genetic diagnosis has now reached 36% of all registered patients (vs. 70% without a molecular confirmation in 2014 in the ‘old’ registry)!
4. 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 Shire).
Predominantly Antibody deficiencies CRF is now open for documentation
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
UnPAD study (Unclassified Predominantly Antibody Deficiency, PI : E. de Vries, unrestricted grant by PPTA): now recruiting
SIMCal study (selective IgM Deficiency, PI : E. de Vries): now recruiting
FIGARO(HyQVia sub-registry — funded by Baxalta/Shire)
EU SCID Newborn screening study (in collaboration with the ESID IEWP, the ESID Clinical WP)
Ataxia-Telangiectasia: retrospective study (Prof. Zielen, Prof. Schubert, Frankfurt, Germany)
Chest CT in Ab deficient patients: international and interdisciplinary group that works together to improve pulmonary diagnostics in patients with antibody deficiency syndrome (Prof. Baumann, Germany).
Potentially, HLH registry (with the Histiocyte Society)
5. 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.
6. Genetics Module:
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.
7. The ESID Registry is part of the European Reference Network (‘RITA’ ERN) that was officially launched a few weeks ago. This is a great opportunity to gather more people across Europe into documenting patients in the Registry, share expertise and knowledge with other rare diseases registries in the cope of RITA (Such as Eurofever), get some funding from RITA hopefully.
8. Funding of the ESID Registry remains an important issue, though we have been doing better than previous years. With more funding, we would like to launch the 2nd edition of the ESID Registry Grants (1st edition was in 2013-2014) going to Documenting centres in need of specific funding for improving the documentation of their patients.
9. Papers using or highlighting the ESID Registry since the previous Newsletter:
1) Bertinchamp R, et al (DEFI study group). J Allergy Clin Immunol Pract. (2016)
- Exclusion of Patients with a Severe T-Cell Defect Improves the Definition of Common Variable Immunodeficiency. (PMID: 27522107).
2) Arslan S; Ann Allergy Asthma Immunol. (2016)
- How effective are the 6 European Society of Immunodeficiency warning signs for primary immunodeficiency disease? (PMID: 26815708)
3) De Vries E. et al. Orphanet J Rare Dis (2016).
- Primary immunodeficiency associated with chromosomal aberration - an ESID Survey (PMID: 27484815)
4) Barlogis V and the French PID Reference Center (CEREDIH).J Allergy Clin Immunol (2016)
- Physical health conditions and quality of life in adults with primary immune deficiency diagnosed during childhood: a nationwide study (PMID: 27697497)
5) Dunogue B and the French PID Reference Center (CEREDIH). Clin Inf Dis. (2017).
- Chronic Granulomatous Disease in Patients Reaching Adulthood: A Nationwide Study In France.
6) Fischer A. and the French PID Reference Center (CEREDIH). J Allergy Clin Immunol (2017).
- Autoimmune and inflammatory manifestations occur frequently in primary immunodeficiencies (PMID: 28192146)
Thank you to all contributors to the ESID Registry.
Hope you all have a spring season and summer.
Looking forward to seeing you the next meeting in Edinburgh.
ESID Registry WP Chairman,
on behalf of the ESID Registry WP Steering Committee.
You can have more information 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
And more about ESID on social media:
Join the ESID Community on Twitter: @ESIDsociety - https://twitter.com/ESIDsociety