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New registry platforms for genetic lipid disorders

Prof Matt BellgardDirector of eResearch

International Clinical Cardiovascular Genetics Conference 2018,23 - 25 May, Brisbane, Australia

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Overview

• APEC and registry platforms• Registries in Context• Examples

• FH clinical screening Registry• Rare Lipid Disorders Registry

• Internationalisation

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Overview

• APEC and registry platforms• Registries in Context• Examples

• FH clinical screening Registry• Rare Lipid Disorders Registry

• Internationalisation

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Addressing Barriers to Healthcare Services for Populations Affected by Rare

Diseases Ensuring an Inclusive “Healthy Asia Pacific 2020”

APEC Life Sciences Innovation Forum Planning Group Meeting 20 August, 2017

Ho Chi Minh City, Viet Nam

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Healthy Asia Pacific 2020“Collaborate with stakeholders and share experiences to provide

the whole population, including the poor, vulnerable and marginalized groups, with access to safe, effective, high quality

and affordable primary health care without the risk of suffering from financial hardship, while at the same time ensuring long term

sustainability to the system.“

Healthy Asia Pacific 2020 Roadmap

“Strengthening health systems to support Universal Health Coverage, providing the whole population with access to safe,

effective, quality, affordable and sustainable primary health care.”

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Rare Diseases at a Glance

WHAT

A rare disease, or orphan disease, affects: Japan: <4/10,000 people Australia: <1.1/10,000 people USA: <7.5/10,000 peopleEuropean Union: <1 in 2000 people

Over 7,000 rare diseases known, ~80% are genetic

Approximately 400 million people affected globallyApproximately 200 million people affected in APEC region*

50% of cases occurring in children

WHO

A critical fallacy to be corrected is that countries must attain economic prosperity before focusing on rare

diseases“

”Shafie et al, 2016*Using averages from http://www.rightdiagnosis.com/r/rare_diseases/stats-country.htm#extrapwarning

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Why APEC is a powerful solution

APEC is uniquely positioned to:

• Unify geographically separated patient populations

• Aggregate overlapping research and innovation

• Harmonize approaches to health regulations (convergence)

• Share best practices from a combined history of experience

STRENGTH IN NUMBERS!

The APEC collaboration model fosters partnerships between government, industry, and academia from ALL economies

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. . . and collaboration will drive this work even further

ChinaIndonesia

USAMalaysia

ChilePeru

ChinaCanada

Papua New GuineaNew Zealand

Hong KongThailandSouth KoreaAustraliaVietnam

Brunei DarussalamChinese Taipei

MexicoJapan

RussiaPhilippines

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Plan of work

Develop an APEC Rare Diseases Action Plan – a strategy for regional collaboration to address barriers to treatment for rare diseases in APEC Economies

Establish the tripartite (academic, government, industry) APEC LSIF Rare Disease Task Force to support development and implementation of the policy dialogue and Action Plan

Convene representatives of APEC Economies (policy makers, clinicians, patient organization leaders, and private sector participants) for a 2-day policy dialogue focused on identifying the barriers to treatment for rare diseases in the APEC region and outlining priority areas for regional collaboration

LSIF endorses concept of addressing rare diseases in the APEC context

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Overview

• APEC and registry platforms• Registries in Context• FH clinical screening registry• Rare Lipid Disorders Registry• Internationalisation

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Why do we need Disease Registries

• Empowering disease patient communities• Focus for personalized and therapeutic interventions• Interaction with (orphan) drug development• Support public health and clinical research• Facilitate service planning by analyses and reporting of relevant data• Enable research by providing de-identified data to researchers• Promote and disseminate new knowledge to inform best clinical

practice and care• Identify and recruit volunteers for clinical trials (clinical trial ready)• Seamless integration with Platform Trials

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Registries are evolving ecosystems• What data is captured and why?

• What data needs to be captured?• How is the data captured and by whom?• Is it safe and secure?

• Who can get access to data?• Who needs to get access to the data?• How will it be used?• Who are the users – and will this change?

• What is the functionality of the registry?• What functionality should it have? • How can new functionality be incorporated?• How can new data fields be included?

Registries systems should not be just viewed as a ‘piece of software (or database) for data capture’• Registries can potentially be restrictive (decision making/discovery)

They are an ecosystem, but also part of broader ecosystem

DecisionSupport

ClinicalTrials

Natural history/CohortStudiesPatient

Centric

ClinicalGenotype/Phenotype/Biobankingwith metadata

PatientData

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DataDemographic

GenotypicPhenotypic

InformationPatient Registry

Recruitment/ClinicalClinical trial

KnowledgeCapture/management

Clinical DecisionDiagnosisTreatment

Patient support

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Registry FrameworkPatient-centric

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Registry FrameworkPatient-centric

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Registry FrameworkPatient-centric

Bellgard et al. Design of the Familial Hypercholesterolaemia Australasia Network Registry, JAT, 2017

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Registry FrameworkPatient-centric

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Overview

• APEC and registry platforms• Registries in Context• Examples

• FH clinical screening Registry• Rare Lipid Disorders Registry

• Internationalisation

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National FH Registry

Youtube Search: FH Registry

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Napier et al. A web-based registry for Familial Hypercholesterolaemia (Heart Lung Circulation)

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National FH Registry

Family linkage

• Patient relatives are linked to an index patient for the purposes of cascade screening

• Index patients may be reassigned, or added to another index as a relative if necessary

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Registry of family pedigrees

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More than a repository of data…Flexible

Securely add new modules, available in multiple languages

DriveResearch, new

treatments

EnableImprovements to

MOC, CTs, education, communication,

awareness

SupportPatient groups,

clinicians, researchers

Bellgard et al. Design of the Familial Hypercholesterolaemia Australasia Network Registry, Jat, 2017.

Attention directing tool (ADT)• Alter clinical practice

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Overview

• APEC and registry platforms• Registries in Context• Examples

• FH clinical screening Registry• Rare Lipid Disorders Registry

• Internationalisation

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New rare Lipid Disorders Registry - in development

• Derived from FHAN Registry • Uses the same DEs where possible

• create once, reuse in different registries• Also able to include bespoke Des

• Registries within registry

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Overview

• APEC and registry platforms• Registries in Context• FH clinical screening registry• Rare Lipid Disorders Registry• Internationalisation

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Internationalisation

• RDRF has full support for translation of text• including Chinese characters and right to left translations such as Arabic. • supports multiple languages, including English, Chinese, Vietnamese, and Japanese among others

• When a language is configured and available, the language will automatically change to the default language set in the user’s web browser.

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RDRF detects the preferred language stored in browser settings.

If the language is available, the registry will be translated.

For example, the MTM Registry has German and Spanish translations available, with Polish coming soon.

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Spanish translation for the MTM Registry

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Multi-language email notifications are also available- users are asked at registration which language they

prefer.

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German translation for the MTM Registry registration page.

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Summary• Registry users’ needs change

• Requirements change • Technologies change• Knowledge-base changes• Facilitate transdisciplinary clinical research

• Build registries with a view to get data out• E.g. Clinical Trial-ready

• Technological innovation• Repurposability• Ability to share forms/registries/DE/Sections/PVs

• Empower end-user: Dynamic/configurable consent/Reporting/Visualisation• Addition of DEs/Sections/Forms

• Patient reporting: Continuous reporting

• RDRF: https://muccg.github.io/rdrf/

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Acknowledgements

CCG• Kathryn Napier• Lee Render• Tamas Szabo• Samuel Chang• Grahame Bowland

Dept. Health, WAPublic Health• Tarun WeeramanthriOPHG• Leanne Lamont• Hugh Dawkins• Caroline Graham

FH Team• Gerald Watts• Jing Pang• Annette Pedrotti• Jennifer Murphy• Natasha Whitwell Funding

• RPH/MRF• Wellcome Trust• NHMRC• EU FP7

Rare Lipid Disorders• John Burnett• Amanda Hooper