1. OUI 2014 – Boston, July 29 Innovation by patients with rare diseases and chronic needs 1 Pedro Oliveira CATÓLICA-LISBON School of Business and Economics Leid Zejnilović Carnegie Mellon University | CATÓLICA-LISBON | IST Helena Canhão University of Lisbon, School of Medicine Eric von Hippel MIT Sloan School of Management

2. 2 Motivation: the problem Between 5000 – 8000 rare diseases afflicting 6% – 8 % of the world’s population; 55 million in the US and EU (Song et al., 2012) Definition: Rare - based on prevalence Orphan - a market where no profit can be extracted Need is extremely high Rare diseases are frequently chronic and disabling Patients can expect little help available from producers or health care The patients are clinically and scientifically underserved (e.g. Griggs et al., 2009)

3. British engineer, Tal Golesworthy (a Marfan syndrome patient), designed own heart implant and saved own life (2004) 3 Personalized External Aortic Root Support Image Source: Daily Mail, UK Source: Habicht, Oliveira, Shcherbatiuk, 2012

4. Sharing Solutions, Improving Life 4 Personalized External Aortic Root Support

5. Sharing Solutions, Improving Life 5 Personalized External Aortic Root Support Diffusion: currently being used by 35 other patients. Tal has been very energetically involved in its diffusion Source: Habicht, Oliveira, Shcherbatiuk, 2012

6. 6 Simple solutions, great results Images Source: www.patient-innovation.com Source: This study

7. 7 Diffusion: other parents reported applying the same solution Simple solutions, great results Images Source: www.patient-innovation.com Source: This study

8. 8 Research Questions RQ1: What are the levels of innovation activity among rare diseases patients? RQ2: What drives patients to innovate? RQ3: To what extent do patients diffuse their solutions, and when is it likely to occur?

9. 9 Research methodology Survey form development Data collection via phone- interviews (n=500) Additional data collection from external databases (for 251 diseases) Validation of novelty (2 health professionals) Multivariate regression models Subjects selected from the list of individuals who contacted the helpline of an association of rare diseases from 2009 to 2012.

10. Socio-demographic characteristics of the respondents 10 VariableN%MeanSDMinMax Respondent’s Age (years) 45.213.21884 Disease Duration (years) 12.5 0.265 Women42585 University Degree19438.8 Employed25551 Married32264.4 SD = standard deviation

11. Innovations 11 New to the respondent (n = 223) New to the world ( n = 40) Total (n = 263) Equipment (medical & non-medical / aid devices) 2%22%5% Treatments 57%8%49.% Strategy / behavior 41 %70%46% Total (% of 263)85%15%100%

12. Innovations 12 New to the respondent (n = 223) New to the world ( n = 40) Total (n = 263) Equipment (medical & non-medical / aid devices) 2%22%5% Treatments 57%8%49.% Strategy / behavior 41 %70%46% Total (% of 263)85%15%100%

13. Innovations 13 New to the respondent (n = 223) New to the world ( n = 40) Total (n = 263) Equipment (medical & non-medical / aid devices) 2%22%5% Treatments 57%8%49.% Strategy / behavior 41 %70%46% Total (% of 263)85%15%100%

14. Innovations 14 New to the respondent (n = 223) New to the world ( n = 40) Total (n = 263) Equipment (medical & non-medical / aid devices) 2%22%5% Treatments 57%8%49.% Strategy / behavior 41 %70%46% Total (% of 263)85%15%100%

15. Innovations 15 New to the respondent (n = 223) New to the world ( n = 40) Total (n = 263) Equipment (medical & non-medical / aid devices) 2%22%5% Treatments 57%8%49.% Strategy / behavior 41 %70%46% Total (% of 263)85%15%100%

16. MSc Thesis Defense | Matilde Czernin | 01/11/13 Motivation Our Research Methodology Results Conclusions For patients: For caregivers: Quality of life before and after the innovation (self-reported data) Before the innovation After the innovation 16 8% of rare diseases patients have innovated Sharing solutions, Improving Life 16

17. Diffusion 17 Solution sharing activityNew to the world (n = 19) New to the respondents (n = 65) Shown it to other patients89%88% Shown it to medical professionals5%6% Shared the info on a website/blog/social network 37%22% Shared it through media16%5% Shown it to commercial entities11%2% Spent time and/or money to help others (people, companies) use the solution 11%3% Made a manual or documentation that helps using the solution 5%3% 84 (32%) of 263 individuals shared their solution.

18. Diffusion 18 Solution sharing activityNew to the world (n = 19) New to the respondents (n = 65) Shown it to other patients89%88% Shown it to medical professionals5%6% Shared the info on a website/blog/social network 37%22% Shared it through media16%5% Shown it to commercial entities11%2% Spent time and/or money to help others (people, companies) use the solution 11%3% Made a manual or documentation that helps using the solution 5%3% 84 (32%) of 263 individuals shared their solution.

19. Diffusion 19 Solution sharing activityNew to the world (n = 19) New to the respondents (n = 65) Shown it to other patients89%88% Shown it to medical professionals5%6% Shared the info on a website/blog/social network 37%22% Shared it through media16%5% Shown it to commercial entities11%2% Spent time and/or money to help others (people, companies) use the solution 11%3% Made a manual or documentation that helps using the solution 5%3% 84 (32%) of 263 individuals shared their solution.

20. Logit models of likelihood of patient innovation and solution sharing 20

21. Logit models of likelihood of patient innovation and solution sharing 21

22. Logit models of likelihood of patient innovation and solution sharing 22

23. 52% of our sample of rare disease patients and/or their non- professional caregivers have developed improvements 15% of these were new-to-the-world (judged new to the world by our expert clinician raters) An estimated 6% to 8% of the world’s population – hundreds of millions of people - are afflicted by rare diseases. a massive, non-commercial source of medical innovations exists, hidden due to a lack of diffusion efforts by innovating patients 23 Conclusions

24. Mode of sharing: patient-to-patient (88% of those who shared solutions) vs 6% of patients reported describing their innovations to their clinicians. Contributions by patients may complement the efforts by policy makers, research entities, and producers, to help improve the difficult situation of rare disease patients, whose needs for innovations are often underserved. 24 Conclusions

25. Sample: Potentially biased towards active individuals: patients and caregivers are retrieved from a population of those who have already reached out towards the rare disease association for help via a helpline. Our respondents are dominantly women Estimates of frequency: Telephone interviews rather than site visits are likely to understate the level of patient and caregiver innovations that actually exist. Validation: No external evaluation of the efficacy of reported solutions. Self- assessment of satisfaction inflated. Measures: Quality of life measure is a single item scale; limits the ability to compare it across different individuals. 25 Limitations