The Role of Disease Foundations in Moving Gene Transfer Forward

Transcription

1 The Role of Disease Foundations in Moving Gene Transfer Forward Mark W. Skinner WFH President 7 April 2005 ASGT Stakeholder Meeting

2 WFH Mission Introduce Improve Maintain Care for people with hemophilia and related bleeding disorders around the world Strengthen & unite global hemophilia community

3 WFH National Member Organizations

4 What Is Hemophilia? Deficiency of coagulation protein, prolonging bleeding Clinical: internal bleeding into joints, soft tissues, brain, abdomen; morbidity and mortality if not aggressively treated Patients with severe disease (<1% clotting factor) at most risk Treat with recombinant- or plasma-derived protein: effective, expensive and not curative Some complications of treatment remain: risks of emerging infectious diseases, venous access, inhibitors, majority of world population untreated, High, Semin Thromb Hemost 2003; 29:107 Kelley, Verma, Pierce, Haemophilia 2002; 8:261

5 Global Reality 400,000 worldwide (120,737 PWH Identified * ) 70% not diagnosed * Many die in childhood Hemophilia NOT a priority with governments Lack of infrastructure, training, education Cost of treatment prohibitive Therapy will not become affordable to most Prophylaxis-limited use in developed world * 2004 WFH Global Survey

6 Availability & Usage of Treatment Figure 6 Availability of recombinant products according to economic capacity Figure 10. Factor usage per capita Number of countries IU per capita < 2,000 2,000 to 10,000 > 10,000 Gross national product per capita (US$) Rarely or never available Sometimes available Alw ays available Not used factor VIII >US$ 10,000 US$ 2,000-10,000 factor IX <US$2,000 GNP per capita 2003 WFH Global Survey

7 WFH Decade Plan Ancient prophets have said where there is no vision, the people perish. Our vision is of a world where all persons and families affected by hemophilia have access to modern comprehensive care. A cure is on the horizon through genetic engineering. We are excited about the bright future. Charles J. Carmen, WFH President July 1992

8 WFH Decade Plan Goal 4 The WFH will: promote research and development of the medical treatment of hemophilia and related disorders, and encourage the development of the technology base for this support. 4.1 Support and encourage scientific initiatives and research targeted at implementing a cure for hemophilia Adopted July 1992

9 WFH Involvement WFH Gene Therapy and Novel Technologies committee mandate: Initiate and lead the debate to find an affordable and accessible cure globally Track R&D; advocate promising science Advise on regulatory and public policy issues Educate global community (risks/benefits) Facilitate access emerging therapies

10 HAEMAPPEAL 5 million campaign for gene therapy Offer a range of grants for 30+ years -Project funds, Infrastructure support, Fellowships -Fund meetings, seminars, roundtable discussions Help raise awareness through open discussion -Research -Social/ethical issues In turn generate support for new therapies with all the community -Initial focus on UK and European science British Society of Gene Therapy 2 nd Annual Meeting

11 National Hemophilia Foundation Initiatives High, Verma Annual gene therapy workshops have enabled leading investigators from academia, industry and federal agencies to review the current state of hemophilia gene research Workshops have rotated between the Salk Institute in La Jolla and CHOP, Philadelphia

12 Supporting research towards improving the quality of life for persons with hemophilia and finding a cure have been goals of the Canadian Hemophilia Society (CHS) since it was founded in 1953 Since 1989, the Society has awarded basic scientific research grants and studentships aimed at developing treatments for hemophilia and finding a cure

13 Why Cure Hemophilia? Well-characterized genetically and clinically - Factor IX Hemophilia B (15%) - Factor VIII Hemophilia A (80%) Large market - 50,000 people in North America and Europe - Annual sales of recombinant factor >$2.5 billion Unmet need - Replacement therapy expensive (>$100K/year) and not curative Simple monogenic disease with wide therapeutic window - Proof of principle established by proteins and genes (in animals) - Regulation and tissue localization not required - Predictive animal models for efficacy Dogs injected with AAV-FIX in muscle or liver show stable expression for greater than 5 years

14 What is a Cure & how do we get there? Managing Patient Expectations Defining a cure Medical intervention that would yield a normal clotting function over an extended period of time, if not permanently. Physical, psychological, social, and financial burdens will not automatically be cured at the same time Haemophilia (2004), 10, (Suppl. 4),

15 What is a Cure & how do we get there? Challenges beyond basic scientific hurdles Attention must be given to interrelated issues Ethical considerations in patient recruitment Most identified patients in developed countries Informed consent Geographic variables of global clinical trials Haemophilia (2004), 10, (Suppl. 4),

16 What is a Cure & how do we get there? Achieving a cure cannot be met by the efforts of one individual, organization, company or country Global clinical trials are an important and appropriate component in the quest to achieve a cure By following identical internationally accepted standards, a successful outcome can be achieved for trials including developing countries, if country specific cultural and economic aspects are considered Haemophilia (2004), 10, (Suppl. 4),

17 A person with severe hemophilia Another person with severe hemophilia

18 Thank you