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Realizing the Potential of Patient Organizations in Translational Research—Delivering Treatments for Rare Diseases Anne C. Berlin, MA, senior specialist for outreach, Scientific Affairs, Association of American Medical Colleges, and Elliott R. Eggan, research technician, Perelman School of Medicine at the University of Pennsylvania To bridge the gap from fundamental science to applied therapy, biomedical researchers must navigate a highly fragmented system and draw on outside expertise and capacities through partnerships. Increasingly, patient organizations can be engaged as helpful allies in this process. At their core, patient organizations (also commonly called patient advocacy groups) are support networks for individuals and families affected by specific diseases and disorders. Patient organizations exist for nearly every known health condition, both chronic and acute, whether common across the population or very rare. Many of these organizations are expanding in complexity and influence by directly funding science and embracing other functions with relevance to clinical and translational researchers.1–3 The following figure illustrates seven key ways patient organizations are contributing to the translation of research from bench-to-bedside at various stages. Rare disease patient organizations have demonstrated leadership in this area because the small number of affected individuals provides little incentive for market-initiated drug development, leaving patients with recourse to few effective treatments.
Major steps on the bench-to-bedside continuum Preclinical Research
Clinical Research
Commercialization
Uncover the pathophysiology Phase 1 Clinical Trials: Phase 3 Clinical Trials: Seek FDA approval to of a disease, identify drug Test safety and dosage in a Evaluate efficacy, dosage, bring to market targets, and test function and safety, and side effects in large small number of healthy toxicity of potential therapeutic groups of affected individuals human participants compounds in cell lines or compared against placebo or animal models existing standard of care Seek U.S. Food and Drug Administration (FDA) approval Phase 2 Clinical Trials: Identify industry partners of an investigational new drug for future manufacture Demonstrate efficacy (unless repurposing an alreadyin affected individuals and distribution approved drug)
Basic science/ laboratory discoveries
New treatments
Key facilitating roles played by patient organizations Promote awareness of specific diseases and the importance of research
Operate—or encourage patient contributions of personal health information and blood and tissue samples to—registries and biobanks
Fund basic and clinical research and young investigator training
Broker rapid, lowcost recruitment of engaged patients for clinical trials
Provide feedback on proposed trial designs and consent language
Maintain networks of influence that span academia, government, philanthropy, and industry
Use political clout and credibility to advocate a favorable regulatory environment
Examples from rare disease patient organizations American Porphyria Foundation
National Marfan Foundation
Barth Syndrome Foundation
For patients with rare diseases who depend on research from only a small handful of experts, capturing the interest of a new generation of scientists is paramount. The American Porphyria Foundation4 funds research training positions under the mentorship of existing disease experts at partner sites of the Porphyrias Consortium—a group of six porphyria centers that work together as a part of the National Institutes of Health’s Rare Diseases Clinical Research Network.
Staging a clinical trial is cumbersome when patients are few in number and geographically dispersed. The National Marfan Foundation5 has provided travel stipends to patients participating in a multisite clinical trial run by academic researchers supported by the National Heart, Lung, and Blood Institute.
Research funding processes are emerging that pair scientific expertise with input from patients on meaningful outcomes. The Barth Syndrome Foundation6 (BSF) provides 1– to 2-year research grants of up to $50,000 and 2– to 3-year grants of up to $100,000 to explore possible therapeutic avenues. Applications are vetted by both a Scientific and Medical Advisory Board and the BSF Board of Directors, which is populated by parents of children born with this life-threatening genetic mutation.
References 1. Gallin E, Bond E, Califf R, et al. Partnerships With Patient Advocacy Groups/Voluntary Health Organizations Can Bridge Gaps in Clinical Research. Clinical Research Forum White Paper. December 2011. http://www.clinicalresearchforum.org/vertical/sites/%7B97FFC4B0-AA89-45B2-8F74-9693F47D3CB0%7D/uploads/2011_CRF_Whitepaper_partnering_with_VHOs.pdf. Accessed July 1, 2014. 2. Gallin EK, Bond E, Califf RM, et al. Forging stronger partnerships between academic health centers and patient-driven organizations. Acad Med. 2013;88:1220–1224. 3. Landy DC, Brinich MA, Colten ME, Horn EJ, Terry SF, Sharp RR. How disease advocacy organizations participate in clinical research: A survey of genetic organizations. Genet Med. 2012;14:223–228. 4. American Porphyria Foundation. Protect Our Future. 2014. http://www.porphyriafoundation.com/donate/apf-accomplishments/protect-our-future. Accessed July 1, 2014. 5. National Marfan Foundation. Comparison of Two Medications Aimed at Slowing Aortic Root Enlargement in Individuals With Marfan Syndrome—Pediatric Heart Network. http://clinicaltrials.gov/ct2/show/NCT00429364?term=marfan&rank=10. Accessed July 17, 2014. 6. Barth Syndrome Foundation Research Grant Program. Barth Syndrome Foundation Researcher Tools and Resources. http://www.barthsyndrome.org/researchers. Accessed July 17, 2014. Author contact: [email protected]
First published online September 16, 2014
Academic Medicine, Vol. 89, No. 11 / November 2014
1573
Realizing the Potential of Patient Organizations in Translational Research—Delivering Treatments for Rare Diseases Anne C. Berlin, MA, senior specialist for outreach, Scientific Affairs, Association of American Medical Colleges, and Elliott R. Eggan, research technician, Perelman School of Medicine at the University of Pennsylvania To bridge the gap from fundamental science to applied therapy, biomedical researchers must navigate a highly fragmented system and draw on outside expertise and capacities through partnerships. Increasingly, patient organizations can be engaged as helpful allies in this process. At their core, patient organizations (also commonly called patient advocacy groups) are support networks for individuals and families affected by specific diseases and disorders. Patient organizations exist for nearly every known health condition, both chronic and acute, whether common across the population or very rare. Many of these organizations are expanding in complexity and influence by directly funding science and embracing other functions with relevance to clinical and translational researchers.1–3 The following figure illustrates seven key ways patient organizations are contributing to the translation of research from bench-to-bedside at various stages. Rare disease patient organizations have demonstrated leadership in this area because the small number of affected individuals provides little incentive for market-initiated drug development, leaving patients with recourse to few effective treatments.
Major steps on the bench-to-bedside continuum Preclinical Research
Clinical Research
Commercialization
Uncover the pathophysiology Phase 1 Clinical Trials: Phase 3 Clinical Trials: Seek FDA approval to of a disease, identify drug Test safety and dosage in a Evaluate efficacy, dosage, bring to market targets, and test function and safety, and side effects in large small number of healthy toxicity of potential therapeutic groups of affected individuals human participants compounds in cell lines or compared against placebo or animal models existing standard of care Seek U.S. Food and Drug Administration (FDA) approval Phase 2 Clinical Trials: Identify industry partners of an investigational new drug for future manufacture Demonstrate efficacy (unless repurposing an alreadyin affected individuals and distribution approved drug)
Basic science/ laboratory discoveries
New treatments
Key facilitating roles played by patient organizations Promote awareness of specific diseases and the importance of research
Operate—or encourage patient contributions of personal health information and blood and tissue samples to—registries and biobanks
Fund basic and clinical research and young investigator training
Broker rapid, lowcost recruitment of engaged patients for clinical trials
Provide feedback on proposed trial designs and consent language
Maintain networks of influence that span academia, government, philanthropy, and industry
Use political clout and credibility to advocate a favorable regulatory environment
Examples from rare disease patient organizations American Porphyria Foundation
National Marfan Foundation
Barth Syndrome Foundation
For patients with rare diseases who depend on research from only a small handful of experts, capturing the interest of a new generation of scientists is paramount. The American Porphyria Foundation4 funds research training positions under the mentorship of existing disease experts at partner sites of the Porphyrias Consortium—a group of six porphyria centers that work together as a part of the National Institutes of Health’s Rare Diseases Clinical Research Network.
Staging a clinical trial is cumbersome when patients are few in number and geographically dispersed. The National Marfan Foundation5 has provided travel stipends to patients participating in a multisite clinical trial run by academic researchers supported by the National Heart, Lung, and Blood Institute.
Research funding processes are emerging that pair scientific expertise with input from patients on meaningful outcomes. The Barth Syndrome Foundation6 (BSF) provides 1– to 2-year research grants of up to $50,000 and 2– to 3-year grants of up to $100,000 to explore possible therapeutic avenues. Applications are vetted by both a Scientific and Medical Advisory Board and the BSF Board of Directors, which is populated by parents of children born with this life-threatening genetic mutation.
References 1. Gallin E, Bond E, Califf R, et al. Partnerships With Patient Advocacy Groups/Voluntary Health Organizations Can Bridge Gaps in Clinical Research. Clinical Research Forum White Paper. December 2011. http://www.clinicalresearchforum.org/vertical/sites/%7B97FFC4B0-AA89-45B2-8F74-9693F47D3CB0%7D/uploads/2011_CRF_Whitepaper_partnering_with_VHOs.pdf. Accessed July 1, 2014. 2. Gallin EK, Bond E, Califf RM, et al. Forging stronger partnerships between academic health centers and patient-driven organizations. Acad Med. 2013;88:1220–1224. 3. Landy DC, Brinich MA, Colten ME, Horn EJ, Terry SF, Sharp RR. How disease advocacy organizations participate in clinical research: A survey of genetic organizations. Genet Med. 2012;14:223–228. 4. American Porphyria Foundation. Protect Our Future. 2014. http://www.porphyriafoundation.com/donate/apf-accomplishments/protect-our-future. Accessed July 1, 2014. 5. National Marfan Foundation. Comparison of Two Medications Aimed at Slowing Aortic Root Enlargement in Individuals With Marfan Syndrome—Pediatric Heart Network. http://clinicaltrials.gov/ct2/show/NCT00429364?term=marfan&rank=10. Accessed July 17, 2014. 6. Barth Syndrome Foundation Research Grant Program. Barth Syndrome Foundation Researcher Tools and Resources. http://www.barthsyndrome.org/researchers. Accessed July 17, 2014. Author contact: [email protected]
First published online September 16, 2014
Academic Medicine, Vol. 89, No. 11 / November 2014
1573
