European Network for Homocystinurias & Methylation Disorders Registry
"Learn about the European Network and Registry for Homocystinurias and Methylation Disorders led by Prof. Henk Blom, focusing on improving knowledge, developing recommendations, and evaluating newborn screening programs. Explore their disease panel, project structure, achievements, and progress on the registry. Discover the geographical coverage and advancements in communication, dissemination, training, and patient-expert meetings."
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Presentation Transcript
European Network and Registry for Homocystinurias and Methylation Disorders Coordinator Prof Henk Blom EAHC 2012 12 02 February 2013 - May 2016
Disease panel Methylation defects Homocystinurias MAT GNMT SAHH ADK CBS MTHFR CblC CblD CblE CblF CblG CblJ Folate defects MTHFD GFT FTCD
Scope & objectives 1. Improving knowledge on HCU and MD through collection of clinical data into a registry 2. Developing diagnosis and clinical care recommendations 3. Evaluating newborn screening (NBS) programmes with recommendations
Project structure Vertical WPs Horizontal WPs WP1 Coordination WP lead: Freiburg (Blom) Advisory board, steering committee Synchronise with E-IMD WP6 Newborn screening WP4 Registry WP5 Guidelines WP2 Dissemination WP lead: Heidelberg (K lker) All clinical beneficiaries and collaborating partners WP lead: Rome (Dionisi-Vici) All clinical beneficiaries and collaborating partners WP lead: Prague (Kozich) Website, information leaflets, reports, posters WP lead: Bregenz (Huemer) Experts from countries performing NBS WP3 Evaluation WP lead: Manchester (Morris) External group including EUCERD, RD-Connect, JARD, PO members
Achievements - for communication and dissemination: like information for professionals and patients and their families (leafletts in 8 different languages) Website http://www.e-hod.org/ - Registry: 625 patients, see also https://www.ehod-registry.org/ - Guidelines published (open access): - CBS - Remethylation - Methylation - Newborn screening
Achievements (contd) - Training course RRD, Prague, March 2016 - International Patient-Expert Meetings: - First in Prague, February 29, 2016 - Second in Rio de Janeiro, September 4, 2017 - Continous support to partners - Continuating communication and dissemination, see http://www.e-hod.org
Progress of the registry at 28 August 2017 Regards to Florian Gleich, Heidelberg
Geographical coverage of E-HOD (N=Patients with Baseline Visit) Ireland N=29 UK N=80 Belgium N=5 Netherlands N=39 Denmark N=14 Poland N=1 Germany N=36 Czech Republic 40 Austria N=14 Switzerland N=26 GreeceN=1 Croatia N=7 Italy N=40 France N=82 Spain N=111 Portugal N=22 Taiwan N=8 Brazil N=30 Colombia N=4 USA N=36
Type and number of visits Registry online SSIEM 2014 SSIEM 2015 SSIEM 2016 ICIEM 2017 625 Baseline visits 760 Regular visits 43 Emergency visits
Emerging pattern of diseases Total n=620 (M : F = 333 : 287) Age at last visit [years]: 17.2 (7.0;32.1) [median (Q1;Q3)] Homocystinurias n=576 Methylation Defects n=43 Folate Disorders n=1 CBS N=315 MAT n=35 IFC n=1 MTHFR n=56 SAHH n=5 CblC n=164 ADK n=3 CblD n=5 CblC / CblD n=10 CblD V1 n=1 CblD V2 n=2 CblE n=10 CblG n=12 CblJ n=1
E-HOD would like to thank Professionals European Union All Patients and their families Collaborating partners Patient Organisations Sponsers Thank you all! Public-private Patient organizations partnerships
