EU rare diseases registry for Niemann-Pick Disease type A, B and C

Tarekegn Hiwot

Consultant in Inherited Metabolic Disorders

University Hospital of Birmingham

Associate and collaborating partners

2

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

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

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

NPD- centers

BiospecimenRepositories

Patients/parent/ carers

Patient advocate

Unique Patient ID #

UnaffiliatedPatients

userAggregated Registries

Data

Public / NHS

Educators

Drug Companies

Researchers

Clinicians

& Care Givers

Methods & application of INPDR

1

23

45

Unique Patient ID #

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

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

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

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

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

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