Second Periodic Report
We have successfully finished the second year of the E-HOD consortium.
We have picked a few short facts below or you may view the full Report.
- At the end of the second project year the consortium is still growing and consists of 95 partners (1 coordinator, 12 co-beneficiaries, 75 collaborating, and 7 patients support groups, industry and other) in 28 countries on five continents (Europe, North America, South America, Asia and Australia). The network includes clinicians, scientists, dietitians, patient organisations and industry representatives.
- Apart from two Advisory Board Meetings various other events (Steering Group Meeting, NBS and guideline groups meetings) of consortium members were held.The next advisory board will be held 31st August 2015, one day before the SSIEM 2015 in Lyon.
- The first version of the patient registry was launched in September 2013 (URL: https://www.ehod-registry.org). Since then monthly updates of the registry have been performed enabling ongoing optimisation of the IT solution. The registry has achieved ethical approval of 43 centers and 312 patients have been registered.
- We receive requests for advice about individual patients and national patient groups. Contacts through the web are rapidly put in touch with one of our network members in the respective country or at least the requests are replied in the patient’s own language.
- International guideline development groups have been set-up. Over 1000 publications have been searched and classified according to each group and subtopic. Partners evaluate each publication using a Monkey Survey questionnaire according to SIGN methodology. E-HOD has defined 4 groups for the guidelines:
- Classical homocystinurias/CBS deficiency
- Cobalamin defects
- Methylation defects and other related disorders (MAT I/III, GNMT, SAHH, ADK)
- Newborn screening evaluation group
E-HOD is performing exceptionally well and has achieved all milestones and deliverables for this second period. The project is innovative as it adds value to the reflection on EU Reference Networks and registries clustering 15 RD onto an existing network and registry (E-IMD) of 11 intoxication type diseases (E-IMD is funded by the EC EAHC 2010 12 01). It also adds value to the reflection on NBS programmes. Following the EMA/EUCERD discussions on the need to develop a unique source of data by disease, E-HOD leads the way in building a registry, with improved sustainability, for researchers, regulators, payers and for orphan drug follow-up through a strategy to develop public/private partnerships. Given the particularly low number of patients and the complexity of the diseases, no national or regional project in Europe would be able to perform this work. It is complementary to and links to Orphanet. E-HOD maps onto the evolving national plans and strategies for rare diseases by ensuring that members of this group are centres of expertise or recognised for their expertise.
For full details please download the Second Annual Periodic Report.