LA RICERCA TELETHON PER LE MALATTIE RARE TELETHON RESEARCH ON RARE DISEASES

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1 LA RICERCA TELETHON PER LE MALATTIE RARE TELETHON RESEARCH ON RARE DISEASES Francesca Pasinelli Direttore Generale 3 Congresso Nazionale SIFaCT Roma, 9 ottobre 2015

2 About Telethon Fondazione Telethon is a major Italian biomedical charity focused on genetic diseases Founded in 1990 at the behest of a group of patients Supported through fundraising Our mission To advance biomedical research towards the cure of muscular dystrophy and other genetic diseases Our vision To convert the results of excellent, selected and sustained research into available therapies We give priority to rare genetic diseases that are neglected by major public and private investment KEY FIGURES Excellence-driven grant allocation 423 M research investment 2,532 research grants 1,547 PIs awarded 449 genetic diseases studied Three intramural institutes Extramural funding programs in Italy Research development up to available therapies 2

3 Enabling factors for competitive/transformative research Excellent fundamental and pre-clinical research Stringent selection system (funding to max. top 20% proposals) Adequate funding Monitoring research progression and results Identifying projects with translational potential Effective translational research Intellectual property protection and technology transfer Management of clinical trials Management of regulatory affairs Competences in drug development 3

4 The basis of Telethon s scientific selection Peer review s core principles 1. Excellence 2. Impartiality 3. Transparency 4. Appropriateness for purpose 5. Efficiency and speed 6. Confidentiality 7. Ethical and integrity considerations European peer review guide European Science Foundation March 2011 Fund allocation through peer review only Regular calls for applications International scientific committee (<10% from Italy) External referees form abroad only Plenary review sessions Complete review reports fed back to applicants Managed by a professional scientific office that safeguards the correctness of the process 4

5 Academic outputs: excellent research to tackle genetic diseases Source: Thomson Reuters, February : papers in international scientific journals 424 papers in 2014 INTERNATIONAL COMPARISONS INTER-INSTITUTIONAL COMPARISONS Telethon MRC (UK) Telethon (Italy) 15,6 15,5 12 NIH (USA) 14,7 10 USA Harvard (USA) 14,0 8 Italy Europe Stanford (USA) Cambridge (UK) 13,2 12,2 6 Oxford (UK) 12,1 Yale (USA) 11,8 Citation index Average number of citations/paper*, 5-yr time windows * Original papers and reviews in the major biomedical research areas (Biology and Biochemistry, Clinical Medicine, Immunology, Molecular Biology and Genetics, Neuroscience) 5

6 Telethon s investment in research has progressively shifted towards the final stages of research The research ladder Percentage of funds awarded rare genetic diseases in the clinical gene therapy pipeline (3 licensed) Therapy Clinical research 8% 33% Pre-clinical research 1% 31% Basic research 91% 36% Source: TRic database, Telethon, January

7 The research development pipeline: Telethon s collaborative model Research Development Delivery to patients Basic research Pre-clinical studies Pre-clinical development Clinical trials Marketing authorization Telethon Pharma & Biotech Selection of excellent research Funding Performance monitoring Patent protection ODD filing GLP laboratories Regulatory competencies GMP production (service agreement with MolMed) Technology transfer Clinical Trial Unit GCP certified Clinical Operation Alliance management 7

8 Business development achievements: 4 major partnerships in 4 years Company Institute Start year Scope Lentivirus-based ex vivo gene therapy for ADA-SCID, WAS, MLD, beta- thalassemia and 3 other diseases Small molecule drug candidates for lysosomal storage disorders and neurodegenerative diseases Gene therapy and small molecule approach for the treatment of lysosomal storage disorders and neurodegenerative diseases 2014 Lentivirus-based gene therapy for treatment of hemophilia A and B Overall 35 M upfront and R&D funding Milestones Royalties 8

9 The pillars of Telethon s industrial agreements All agreements between Telethon and industrial Partners Safeguard research independence of Telethon investigators Retain intellectual property rights Mandate commitment in developing therapies Imply return of any IP and results co-developed, in case the Partner does not pursue therapy development Provide funding in support of the research in the collaboration programs Supply additional funding through overheads and milestones/royalties, in support of further research activities 9

10 Conclusions Fondazione Telethon acts as a research funding agency We are accountable towards patients affected by rare genetic diseases Excellent research is a mandatory tool to reach our goal of providing therapies for rare genetic diseases We cannot assure success of research results, but we guarantee full commitment towards our goals by engaging all competences required 10

11 Global Success Stories Thank you for your attention!