Duchenne Research Breakthrough Fund review and update

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The Duchenne Research Breakthrough Fund was launched eighteen months ago by the Muscular Dystrophy Campaign with the aim to raise funds to accelerate the pace in development of effective treatments …

The Duchenne Research Breakthrough Fund was launched eighteen months ago by the Muscular Dystrophy Campaign with the aim to raise funds to accelerate the pace in development of effective treatments for Duchenne muscular dystrophy.

Since launch over £1million has been raised and spent by the Fund thanks to the committed support to families across the UK who have undertaken a range of fundraising activities.

This presentation provides a full update of the Fund, which was presented at a recent review meeting.

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  • Developing potential therapeutic approachesGreat advances made in therapeutic approaches but still a number of conditions where underlying biological process is well studied but no effective treatment available.Promoting clinical trial readinessClinical trials and pilot studiesUnderstanding the cause of neuromuscular diseases


  • 1. Review and update meetings Glasgow and Liverpool 22 February 2014
  • 2. Today’s agenda • The Fund - overview • Research update • Regulatory challenges • Story from local ambassador • Questions
  • 3. The Fund Overall investment into Duchenne muscular dystrophy - £2.2million Phase 1 completed - £800,000 invested 4 research projects completed - £446k 3 continuing research projects - £230k Parliamentary campaigning - £30k Phase 2 - £1.4million target by 2016/17 7 new research projects - £554k 3 continuing research projects - £126k New clinical research fellow - £180k Parliamentary campaigning - £160k Clinical trial readiness & infrastructure - £72k Clinical trial readiness & infrastructure £380k
  • 4. The Duchenne Forum
  • 5. Paving the road to treatments Dr Neil Bennett Research Communications Officer Dr Alison Stevenson Senior Grants Manager Email: n.bennett@muscular-dystrophy.org Website: www.muscular-dystrophy.org
  • 6. Overview • The research department • Clinical trial update • Why and how we fund research • Update on Duchenne research projects • The future
  • 7. Our Activities • Research grant program • Applications undergo a rigorous peer-review process • Only the best science is funded • Facilitate collaboration/communication between scientists • Organising conferences and workshops • Funding support for the European Neuromuscular Centre • Research Communications Service • Target Research • Weekly web-based news service • Information on clinical trials
  • 8. Exon-skipping clinical trials • Two initiatives currently trialling exon-skipping technology • Prosensa/GSK and Sarepta Therapeutics targeting exon 51 • Eteplirsen trial - slower decline in walking ability • The distance boys can walk is stable after 120 weeks • Very small phase 2b study - further trials required • Drisapersen phase 3 trial failed to show effectiveness • Large phase 3 trial of 180 boys • Companies now analysing the data in more detail • Prosensa testing molecular patches to exons 44, 45, 53
  • 9. Other clinical trials • Ataluren for Duchenne muscular dystrophy • Phase 3 trial under way • Could help cells overcome nonsense mutations • SMT-C1100 • Phase 1b trial started • Has the potential to increase production of utrophin • Other trials include • HT-100 • Stem cells
  • 10. Why fund research? • Not all potential treatments in clinical trials will work • We don’t know which therapeutic approach will work best • Initial treatments may need to be improved • Different approaches may be needed in different boys • Exploring a broad range of therapeutic approaches will maximise the chance of finding an effective treatment
  • 11. Duchenne Research: a focus within the charity • The charity was founded in 1959 by a clinician, a scientist, and the parent of a boy with Duchenne • A strong focus on funding research to find treatments and eventually cures • In the last 10 years the charity has invested: • £4.3M into Duchenne research • £2.7M into UK muscle centres • £0.5M into databases • Spearheaded a number of promising, potential treatments
  • 12. How do we choose research projects Research Grant Application Lay Application Lay Research Panel Scientific Application International Peer Review Medical Research Committee Board of Trustees Meeting
  • 13. Peer Review • What is it Peer Review? • It is used to assess the quality of scientific ideas • Independent scrutiny by qualified experts (peers) • What does it tell you? • • • • • • • Scientifically valid, significant and original Timely and achievable Not unnecessarily duplicating other work Using appropriate methodologies Carried out by researchers with the right skills and facilities Value for money Fits with our research strategy Quality control for science
  • 14. Strategic topics 1. Developing potential therapeutic approaches 2. Promoting clinical trial readiness 3. Clinical trials and pilot studies 4. Understanding the cause of neuromuscular diseases 5. Building clinical and scientific capacity 6. Improving quality of life 7. Foster sharing of knowledge and networking within the scientific community in the UK and internationally 8. Building partnerships
  • 15. The research we fund Clinical trials infrastructure Improved diagnostics Better disease characterisation Therapy delivery Gene identification Understanding muscle function Understanding what goes wrong Well characterised animal models Basic Science Therapeutic concepts Testing drugs in animal models Preclinical Studies Regulatory affairs
  • 16. The research we fund Clinical trials infrastructure Improved diagnostics Better disease characterisation Therapy delivery Gene identification Understanding muscle function Understanding what goes wrong Well characterised animal models Basic Science Therapeutic concepts Testing drugs in animal models Preclinical Studies Regulatory affairs
  • 17. Ongoing Duchenne research projects Professor George Dickson is using exon skipping to boost muscle growth by blocking the activity of a protein called myostatin. Professor Nic Wells at the Royal Veterinary College is investigating ways to make blood vessels more leaky to improve the delivery of molecular patches to the muscles Professor Matthew Wood at the University of Oxford is looking at using short protein fragments, called peptides, to improve the delivery of the molecular patches to the heart
  • 18. New research projects • The 2013 grant round focused on research for Duchenne muscular dystrophy • Seven projects were awarded; developing various potential therapeutic approaches • With the contribution of other Duchenne charities through the Duchenne Forum our commitment for the next 4 years will be £850,000
  • 19. New research projects Dr Jennifer Pell (University of Cambridge) • • £121,000 for 2 years Investigating inflammation in Duchenne muscular dystrophy Prof Kay Davies (Oxford University) • • £128,000 for 2 years Developing small molecules to target Duchenne muscular dystrophy •Dr Angela Russell (Oxford University) • • £110,000 for 4 year PhD studentship Understanding how small molecules can increase levels of utrophin
  • 20. New research projects Prof George Dickson (RHUL) • • £80,000 for 3 year PhD studentship Genome surgery for Duchenne muscular dystrophy •Prof George Dickson (RHUL) • • £180,000 for 3 years Development of a triple-transplicing system for Duchenne muscular dystrophy Prof Jenny Morgan (UCL) • • £111,000 for 4 year PhD studentship Altering the muscle environment to influence stem cell behaviour
  • 21. New research projects Prof Matthew Wood (Oxford University) • • £110,000 for 4 year PhD studentship Searching for biomarkers of Duchenne muscular dystrophy
  • 22. Translational research • The transfer of scientific discoveries into clinical applications Bench – to – Bedside • Several challenges due to the rarity of the conditions • How to find the patients • Assessing the benefit of a potential treatment • The promotion of public-private partnership is important particularly with regards to the cost
  • 23. The translational triangle New Technology Patients Outcome measures
  • 24. Supporting clinical (trial) infrastructure • Clinical Training and Research Fellowships • Clinicians who undertake a research project • Current call for applications for a Fellow who will focus on Duchenne muscular dystrophy • Clinical Trial Co-ordinators • Based at the muscle centres in London and Newcastle • Help the centres with the administrative burden of organising clinical trials • Neuromuscular database (Northstar) • Collects natural history data from boys with Duchenne • Currently being expanded to collect data from boys no longer able to walk
  • 25. Into the future… • More and more clinical trials starting to take place BUT… • Clinical trials are expensive and don’t always work HOWEVER… • There is a growing confidence in the scientific community that therapies will start to appear on the market in the next few years
  • 26. Email: n.bennett@muscular-dystrophy.org Phone: 0207 8034 813 Website: www.muscular-dystrophy.org
  • 27. Speeding up access to drugs for rare diseases Nic Bungay Director of Care, Campaigns & Information Rebecca Johnston Neuromuscular Outreach Officer
  • 28. Introduction and Context • Potential treatments on the horizon • Regulatory hurdles • Approval process • Funding arrangements • Parliamentary activity
  • 29. Who do we need to influence? • European Medicines Agency and relevant Committees • Medicines and Healthcare products Regulatory Agency (MHRA) • National Institute for Health and Clinical Excellence (NICE) • NHS England • Health Ministers
  • 30. Parliamentary Inquiry – background All Party Parliamentary Group for Muscular Dystrophy inquiry in 2013: “To determine the future of access to high cost drugs for orphan diseases in the NHS; the regulatory and reimbursement environment for orphan drugs; and the future of funding arrangements for research into treatments for children and adults with rare diseases”
  • 31. Parliamentary Inquiry – evidence • Researchers and pharmaceutical companies • Patient and family views • Regulatory, approval and funding perspective • Department of Health • Charitable organisations
  • 32. Parliamentary Inquiry – recommendations • Government should establish a ring-fenced fund for rare disease drugs • NICE should assess treatments for rare conditions differently from less rare conditions • the Medicines and Healthcare Products Regulatory Agency (MHRA), NICE and NHS England should speed up access to life-changing drugs after the final stages of clinical trials • NHS England should ensure specialist centres are equipped with an appropriate range of health professionals to deliver treatments
  • 33. Parliamentary Inquiry – report and follow-up •Report presented to Health Minister Norman Lamb in September 2013 at MDC parliamentary reception • Subsequent roundtable and one-to-one meetings with MPs and Peers, MHRA, NICE and NHS England • Parliamentary pressure – debates and questions in the House of Commons and House of Lords
  • 34. Thank you for your support Rebecca Johnson 020 7803 2865 r.johnson@muscular-dystrophy.org
  • 36. Fundraising What can you do to help?
  • 37. What can I do? • Place collection tins in your local area • Make a regular donation by Direct Debit • Take part in our events programme • Help out at an organised collection • Organise your own fundraising event • Set up a Family Fund
  • 38. Family Funds