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National Collaborative Study of Lysosomal Storage Disorders

National Collaborative Study of Lysosomal Storage Disorders. An introduction by Prof. Stuart Logan & Dr Rob Anderson Peninsula Medical School Exeter. Today’s talk. Rationale and background Aim and methods of the research What stage are we at now?

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National Collaborative Study of Lysosomal Storage Disorders

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  1. National Collaborative Study of Lysosomal Storage Disorders An introduction byProf. Stuart Logan &Dr Rob AndersonPeninsula Medical SchoolExeter

  2. Today’s talk • Rationale and background • Aim and methods of the research • What stage are we at now? • What will it mean for patients and their families? • … Questions from you

  3. Aims and Objectives of the study • National study aiming to recruit everyone diagnosed with a lysosomal storage disorder in England • To understand the natural history of these disorders with and without treatment • To estimate the effectiveness and cost effectiveness of enzyme replacement therapy

  4. Aims and Objectives of the study • To estimate the life-time health care cost and economic impact on people with lysosomal storage disorders • To provide the basis for future research to develop treatment-responsive measures in adults and children. • To compare the effectiveness of Replagal and Fabryzme in children and adults with Fabry disease

  5. Project Management Plan- Peninsula Medical School Staff • Stuart Logan • Katrina Wyatt • Rob Anderson • Ken Stein • Sheena Oxer • Lindsay Anderson • Camilla McHugh • Laura Stabb • William Henley

  6. Project Management PlanCo- investigators • Great Ormond Street Hospital, London - Ashok Vellodi • Royal Free Hospital, London - Derralynn Hughes; Atul Mehta • Queens Square Hospital, London - Philip Lee; Robin Lachmann • Addenbrookes Hospital, Cambridge - Tim Cox; Patrick Deegan; Uma Ramaswami • Manchester Children’s Hospital- Ed Wraith • Hope Hospital, Salford - Steve Waldek • Birmingham Children’s Hospital - Chris Hendrikz

  7. Project Management PlanCollaborators • Pompe Society • MPS Society • Gauchers Association (also co-applicant) • Niemann-Pick Disease Group • Battens Disease Family Association • CLIMB (Children Living with Inherited Metabolic Diseases)

  8. Patient Associations engagement • Representatives from patient’s associations attend Management meetings • Patient Support Groups advise on questionnaires/website design/ PIS • Stakeholder meetings • held annually: 20th April 2007, 1st May 2008 • Ongoing contact • Data-fields • Quality of Life and resource use questionnaires incl. how best to collect the data from the participants

  9. Project Management PlanOther Associations • Study ‘adopted’ by Medicine for Children Research Network • Assisting with recruitment of staff • Global Organisation for Lysosomal Storage Disorders NB. Pharmaceutical companies will be kept informed via our website

  10. What is the problem? • Multiple, individually rare, conditions • Natural history poorly characterised • No agreement on key outcome measures • Ludicrously expensive drugs • Trials short term, surrogate outcomes • Politically difficult situation

  11. Summary of method • National recruitment • Outcomes based on length of life (survival) Quality of Life and multiple clinical measures • Retrospective and prospective data • Comparison depends on variation in age/stage of starting drug (relating to availability)

  12. Project progress

  13. Study progress summary • October -April 2005/6 met with clinicians • April 2006 submitted protocol to HTA • June 2006 responded to comments from HTA • July 2006 Agreement subject to ethics approval • Feb. 2007 Initial Ethics approval • May 2007 Start date agreed with HTA • Jan. 2008 Research Governance approval from all sites (began approval process August 2006!) • March 2008 Sub contracts with sites • April 2008 Substantial ethics amendment • April 2008 HTA time and resource request

  14. Progress to date • All sites have recruited research nurse/ analyst (August 2008) • Six of seven in post (other to start October 2008 • Recruitment of Pompe patients started (more later!) • Fabry datafields agreed • MPS II currently being discussed • Databases under preparation for next conditions

  15. Patients at treating hospitals (2008/9)

  16. What will it mean for participating patients and their families?

  17. Eligibility and Identification • Only patients attending the 7 treating hospitals are eligible to join the study • Treating consultant will identify those patients who can be approached for consent

  18. Informed consent • Consent to participate will be obtained at routine hospital appointments • Probably their annual review • Hope to have consented all eligible MPS1, Gaucher and Pompe patients by June 2009. • Two levels of participation (consent) • Hospital records and Quality of Life and service use Questionnaires • Hospital records only

  19. How will the study work • Collect patient data when people attend hospital for their yearly review • Data will be entered at each hospital, onto a secure database • Most of the information will be routinely collected clinical information • Also, wider quality of life impacts on patients, and parents or main carers • Costs for patients/families as well as to NHS

  20. Quality of life and carer data • Costs to the NHS (e.g. treatment cost, health service use) will be collected by the Client Resource Use questionnaire • The Health-Related Quality of Life of patients • Adults: Short Form-36; EQ-5D; (HUI-3) • Children: age-appropriate PedsQL; SF-36 if 12 or over; (HUI-3 if 12 or over) • Carer Strain Index and EQ-5D

  21. Costs – our perspective To create the fullest picture of the financial and other impacts of these conditions on people & families NOT just cost to NHS NOT just costs relating to patients • Using the Service and Resource Use questionnaire • Adapted with the help of the LSD patient associations • Extra questions cover, e.g.: • Impact on school and work • Extra costs to families (travel, child care, accommodation) • Time of paid or unpaid carers, relatives or friends

  22. Summary: How will it affect you? • In terms of treatment and care received? • NOT AT ALL = “observational research” • Two main ways: • Initial informed consent • Regular questionnaire completion *** And … • Contributing to nationally and internationally important research to help other people and their families with Lysosomal Storage Disorders

  23. Please help us to get it right How can we inconvenience you the least? Self-completed questionnaires? Interviewer (nurse) administered? Patient/parent called at home, at an agreed time Sent out before appointment at clinic, for completion at home? Provided by nurse at clinic, for completion in between tests or consultations?

  24. Quick poll!

  25. Any questions? Or, e-mail us at: Rob.Anderson@pms.ac.uk

  26. Problems Encountered to Date • Key problem: lengthy negotiations with Trusts and the DH over NHS costs not resolved until 2007 • Difficulties in appointing the Study Coordinator • Difficulties getting a successful tender for the necessary provision of the study database • The management team therefore took the decision not to appoint nurses until database and data-fields agreed for first three conditions • Agenda for Change: very substantial increase in research nurses’ salaries, plus time delay necessitating additional funding request • additional centre licensed by the DH (B’ham) and included in the study • Nurse recruitment, slow

  27. Issues arising from TSC • Query ability to recruit patients in clinical trials • Genzyme agreement with the DH • International data collection • Query regarding capturing conditions for which no treatments are available eg Battens • Query regarding using Scotland as untreated cohort

  28. Trial Steering Committee members

  29. Meetings held to date • 20th April 07 Stakeholders’ day • 25th July 07 Management meeting • 15th Jan 08 Management meeting • 21st Feb 08 Management meeting • 24th April 08 Trial Steering Committee meeting • 1st May 2008 Stakeholders’ day

  30. National Collaborative Study of Lysosomal Storage Disorders – next steps • Recruit nurses/ research analysts at each site – ongoing • Nurses recruited at B’ham and Salford • Submit substantial amendment to ethics regarding QoL and service use questionnaires and 2 tier consent (submitted) • Pilot database for Pompe, MPS 1 and Gaucher (May 2008) • Draft data fields for Fabry and MPS II • Pilot database for Pompe, MPS 1 and Gaucher (May 2008)

  31. NCS – LSD future milestones • June 2008: Recruit Gauchers, Pompe and MPS I patients into the study • June 2008: Agree data fields for Fabry and MPS II • June 2008 : Live website for study • August 2008: Recruit Fabry and MPS II patients into the study • Ongoing: Agree next conditions, data fields, programme database and recruit

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