1. EU rare diseases registry for Niemann-Pick Disease type A, B and C Tarekegn Hiwot Consultant in Inherited Metabolic Disorders University Hospital of Birmingham

2. Associate and collaborating partners 2

3. The Problem NPD – 3 type/ultra rare/progressive/fatal Failure to recognise patterns Difficult to make clinical diagnosis Laboratory test is too complex and takes several months Too rare for doctors to learn Little research Inadequate patient information No disease specific therapy

4. Objectives To establish the natural history of the 3 diseases To establish genotype-phenotype correlations To support the establishment of rapid diagnostic testing To provide an inventory of patients for recruitment to interventional studies To assess clinical effectiveness of management and quality of care Empowerment of patients

5. Methods and means To agree data collection for each rare disease To develop and road test a web based registry To assess patient information/professional learning needs http://www.inpdr.org

6. NPD- centers Biospecimen Repositories NPD- centers Biospecimen Repositories Patients/ parent/ carers Patients/ parent/ carers Patient advocate Unique Patient ID # Unaffiliated Patients Unaffiliated Patients user Aggregated Registries Data Aggregated Registries Data Public / NHS Educators Drug Companies Researchers Clinicians & Care Givers Methods & application of INPDR 1 2 3 4 5 Unique Patient ID #

7. NPC-biochemical diagnostic testing in partner countries Adopt and validate the oxysterol assay method Support our partners to introduce state of the art diagnostic testing for NPC Disseminate successfully established diagnostic protocols to all EU diagnostic laboratories to set up a common, quality-controlled NPD testing strategy

8. NPC-molecular diagnostic testing in partner countries Establish a comprehensive NPC mutation database genotype-phenotype correlations Establish and validate improved NPC genetic testing based on new sequencing technologies Support and partially fund NPC Exome sequencing

9. Value added of EU collaboration Networking of clinical and laboratory service in Europe Documenting Patient reported outcome Critical mass to enable high quality research Patient numbers for clinical trials- phase 1-4 Sharing best practice Provide data for clinical and cost effectiveness of standard care and orphan drugs in the EU

10. Sustainability Drivers: – Utility to health professionals, researchers, patients and industry – EMA drive for a disease specific and independent registry for rare disease Plans for continuation: – EU health providers: network of experts in NPD – Industry: new and existing orphan drugs need for registry – Charitable organisations Future developments: – Possible merge with existing NPC registry – utilisation of the registry for basic research and clinical trail – serve as orphan drug registry

11. Challenges in setting up EU grant application within NHS EU grant = quality of the project + No. of member states Establishing consortium- time/resource Limited awareness of EU grant by non-academic clinician No awareness by middle managers Limited or no administrative support at mid management level NHS-EU officers were not visible Most EU grant require co-funding

12. Strengeth of setting up EU grant from within the NHS Several flagship nationally funded service Strong patient-clinician partnership Many of the UK patient society are founding members of EU/International support group Visionary NHS mangers at the top level English Language Competitive overhead cost