new ways of involving patients in genetic research: rare uk diseases of bone, joint and blood...
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New ways of involving patients in genetic research:
Rare UK Diseases of bone, joint and blood vessels study (RUDY)
MK JavaidAssociate Professor in Metabolic Bone Disease, University of OxfordHon Consultant Rheumatologist, Nuffield Orthopaedic CentreLead Clinician for FRiSCy
background to the Rudy study
Rare diseases are Under-researched> 95% no treatment
3 million patients in the UK
Information for patients and doctors is fragmented
Limited evidence for informing care in children
NO treatment proven to work in adults
More fractures at 40 -50yrs Lose lung capacity Lose ability to work
NO treatment proven to work in adults
Bone pain Fracture Rarely cancer
• <5 : 10,000 • 5- 8000 rare diseases• 95% treatment gap
• 40% diagnostic challenge• 25% wait 5- 30 years to get a diagnosis
“there is so much rubbish on the internet about rare diseases”
Rudy Patient forum skype 2014
• Government funded initiative
“Improving the health and wealth of the nation through research”
“maintain a health research system in which the NHS supports outstanding individuals, working in world class facilities, conducting leading edge research focused on the needs of patients and the public”
Dame Sally Davies
NIHR Rare Diseases Translational Research Collaboration:
1. Support patient centred research
2. Develop and delivery deep phenotyping / genomic mechanisms
3. Partnership with industry for novel biomarker/ therapeutics
4. Build research capacity > next generation researchers
TRC Rare Disease theme leads
1. Skin: Guy’s and Thomas’s BRC John McGrath [email protected]
2. Immunological disorders: GOSH BRC Adrian Thrasher [email protected]
3. Neuromuscular: Mike Hanna UCL BRC [email protected]
4. Musculoskeletal: Oxford BRU Paul Wordsworth, Kassim Javaid, Raashid Luqmani
5. Dementia and Neurodegenerative: Nick Wood UCL BRC/BRU [email protected]
6. Respiratory disease : Royal Brompton BRU Eric Alton [email protected]
7. Gastrointestinal Newcastle BRC David Jones [email protected]
8. Cardiovascular: Hugh Watkins Oxford BRC [email protected]
9. Eye Disease Moorfields BRC Tony Moore [email protected]
10.Metabolism: Cambridge BRC Stephen O’Rahilly [email protected] (Rob Semple [email protected])
11. Cancer: Stan Kaye Royal Marsden BRC [email protected]
12.Paediatric cross cutting: Birmingham NIHR/Wellcome CRF Tim Barrett [email protected]
13.Renal: Fiona Karet Cambridge BRC [email protected]
14.Non-malignant Haematological disorders: Irene Roberts Oxford BRC [email protected]
No national cohort
Multiple Institution based patient cohortsRecord different measuresUse different toolsRegistry to detailed cohort
Solution
Identify and recruit – across institutions
National recruitment:
Consultant team: Hospital databaseHospital lettersHospital clinics
Mailing listAdvertise on website
www.rudystudy.org
1. Online registration
2. Arrange a telephone call to consent
3. Consent form signed and returned
4. Diagnosis confirmed with doctor
5. Participants provided with login
Not everyone with a rare disease can/ wants to contribute the same level of detail….
at recruitment
during their time in the study
A two way conversation
Method of communication…
Identifiable Data(Name / Address etc)
Non-Identifiable Data(Assessments/ samples)Encrypted
Username + Secure password Memorable word
My Copy/ My Feedback
My Disease recordMy consent statusMy contribution to research
Disease specific Eligible trials Rudy general
Data Oversight committee
Data Access CommitteePatient forumExternal Advisory group
Genetics Forum> GeCIP
Policy group
252 recruited
Two way conversation- Substantial ethical amendment
Traditional model
Post/ telephone participants
Arrange Face/ Face or telephone
RE-CONSENT
DC model
Email participantsmini-update
On-line consent preferences
Paper based re-consentSend> Sign > Return
Summary
• Care gap– Diagnostic delay– Treatments improve outcome
• Research platform– 2 way conversation– Dynamic involvement
Kerri RanceSally HopeSarah ConnacherTerri MorganCarol WeeksRachael KnightVivienne FaircloughTracy DobbinElaine ArthurJ ChelsomF HighfieldE de AraujoAM Morgan
Oxford TeamCooper, Arden, Wass, Willett, Carr, Price, Glyn-Jones, Hamdy, RamasayA Soni, K Leyland, S Sheard, R Warne, D Prieto Alhambra, A Judge, S Hawley, R Pinedo-Villanueva, G Round, R Batra, A Kiran, D Hunter
IOF teamKristina Akesson (Sweden) Cyrus Cooper (UK)Mark Edwards (UK)Charlotte Moss (UK)Paul Mitchell (NZ) Muriel Schneider (SZ)Dominique Pierroz (SZ)Judy Stenmark (SZ)
RUDY teamA TurnerJ BarrettJ HoggR PopertD GreyN GreyH Teare J KayeR LuqmaniP Wordsworth