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Advocacy Group Approaches to Accelerating Research and Product Development: Illustrative Examples

Many rare disease advocacy organizations focus their resources on assisting patients and families. Others focus on research to understand the disease process and develop diagnostic tools, preventive interventions, or treatments. Some have significant commitments in both areas.

As illustrated by the example of the Progeria Research Foundation in Chapter 1 (Box 1-3), a focused organizational approach can, under some circumstances, contribute to progress in a relatively short period even for an extremely rare condition. Creating that focused organizational approach takes human and financial resources. Although the number of rare conditions for which there are advocacy groups has grown, a great many rare conditions lack research-focused advocacy organizations. Moreover, many existing rare diseases advocacy organizations have very limited funds to support research and are still developing the expertise and experience to support a focused research effort.

The groups represented in this appendix were not selected because they are typical but because their work illustrates different elements and emphases of organizational research strategies. To some degree, new and established groups learn from and build on the experience of others, including some advocacy groups that focus on more common conditions. For example, the Myelin Repair Foundation, which supports research to develop treatments for multiple sclerosis, notes on its website that more than 60 academic, advocacy, and other organizations have contacted it for information about its Advanced Research Collaboration, or ARC, model (http://www.myelinrepair.org/about/). The foundation stresses several features of its strategy, including a comprehensive plan to guide activities; an



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F Advocacy Group Approaches to Accelerating Research and Product Development: Illustrative Examples Many rare disease advocacy organizations focus their resources on as- sisting patients and families. Others focus on research to understand the disease process and develop diagnostic tools, preventive interventions, or treatments. Some have significant commitments in both areas. As illustrated by the example of the Progeria Research Foundation in Chapter 1 (Box 1-3), a focused organizational approach can, under some circumstances, contribute to progress in a relatively short period even for an extremely rare condition. Creating that focused organizational approach takes human and financial resources. Although the number of rare condi- tions for which there are advocacy groups has grown, a great many rare conditions lack research-focused advocacy organizations. Moreover, many existing rare diseases advocacy organizations have very limited funds to support research and are still developing the expertise and experience to support a focused research effort. The groups represented in this appendix were not selected because they are typical but because their work illustrates different elements and emphases of organizational research strategies. To some degree, new and established groups learn from and build on the experience of others, in- cluding some advocacy groups that focus on more common conditions. For example, the Myelin Repair Foundation, which supports research to develop treatments for multiple sclerosis, notes on its website that more than 60 academic, advocacy, and other organizations have contacted it for information about its Advanced Research Collaboration, or ARC, model (http://www.myelinrepair.org/about/). The foundation stresses several fea- tures of its strategy, including a comprehensive plan to guide activities; an 

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 RARE DISEASES AND ORPHAN PRODUCTS emphasis on real-time sharing of scientific discoveries among experts; and partnerships with industry. Another often-cited group, FasterCures, seeks to encourage innovation and efficiency in medical research generally and to promote the diffusion of successful strategies (http://www.fastercures.org/ index.cfm/OurPrograms/Overview). Among rare diseases organizations, the Cystic Fibrosis Foundation has, in many respects, led the way in developing and implementing a systematic research strategy that is tailored to evolving research progress and scientific and technological opportunities. Two umbrella organizations, the National Organization for Rare Dis- orders and the Genetic Alliance, provide assistance to organizations trying to develop and implement research strategies. Advocacy groups with a focus on rare diseases research can also benefit from various initiatives of the Office of Rare Diseases Research at the National Institutes of Health (NIH) and the Office of Orphan Product Development at the Food and Drug Administration. Rare diseases advocacy organizations that support research and devel- opment vary in their approaches and emphases. Their research objectives and the strategies for attaining them may be influenced by a number of factors, including their financial resources, the existence of effective treat- ments, and the experiences, priorities, and expertise of the group’s found- ers. Other factors that may shape a group’s research directions include whether or not a disease’s cause is known; how well the disease process is understood; what research, if any, is being undertaken by other public, nonprofit, or commercial entities and what niche the advocacy organization is best equipped to fill; whether it is critical to recruit new scientists into the research area; and how challenging it is to recruit patients and families to participate in research. Organizational strategies may be highly focused on one segment along the spectrum from basic to clinical research or they may span the spectrum. As research progresses, strategies may shift from an emphasis on identifying the cause and genetic and molecular basis of a disease to identifying and testing promising therapies and securing FDA approval. Groups vary significantly in their resources. For the organizations used as illustrative examples in this appendix, Table F-1 shows major differences. The years and definitions may not be completely consistent for the figures cited in the table, but they give a sense of the substantial range in orga- nizational resources and the concentration of organizations in the lower end of the range. (Two groups with spending higher than that of most of the groups in the table are the Multiple Myeloma Research Foundation at around $13 million and MDA, formerly the Muscular Dystrophy As- sociation, at around $39 million for 2009 according to their 2009 annual reports.) The examples below illustrate different components of research strate-

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 APPENDIX F TABLE F-1 Spending on Research or Research Grants for Selected Advocacy Organizations, 2008 Spending Organization (millions of dollars) Scleroderma Research Foundation 1.2 Friedreich’s Ataxia Research Alliance 1.3 International Rett Syndrome Foundation 1.7 Alpha 1 Foundation (research and detection) 3.7 Spinal Muscular Atrophy Foundation 3.9 Cystic Fibrosis Foundation 71.6 SOURCE: For Cystic Fibrosis Foundation and Scleroderma Research Foundation, 2008 fi- nancial statement. For Alpha 1 Foundation and Friedreich’s Ataxia Research Alliance, 2009 annual report. For other organizations, IRS form 990 for 2008 as posted on Guidestar.org. (Figures are from Part I, line 13, or Line 10 on the 990-EZ.) Amounts reported do not include fundraising, salaries, or other expenses. gies that various organizations have developed, often based on a systematic assessment of the gaps in knowledge or resources and the contributions that organizations like theirs can make to bridge those gaps. Not featured but central to organizational research strategies for rare and common diseases alike are three strategic elements: raising funds, political advocacy, and engaging patients, families, and communities in these and other aspects of an organization’s work. The examples of elements of research strategies for the following orga- nizations are excerpted from materials on each group’s website; they thus may be worded to attract donors and inspire the community of patients, families, researchers, and other supporters. The accuracy of the excerpted materials has not been checked, and their use does not constitute a recom- mendation or endorsement. The formatting (e.g., font size, text highlight- ing) has been altered for consistency, and graphics and some details (as indicated) have been omitted. EXAMPLE 1 LANDSCAPE ANALYSIS: INTERNATIONAL RETT SYNDROME FOUNDATION As part of an effort to understand in detail the environment of research on Rett syndrome, the International Rett Syndrome Foundation (IRSF) undertook a landscape analysis, which in this case involved a detailed examination of the focus of research funding by NIH and private entities. The group has recently applied the same analytic strategy to frontotemporal dementia. Rett syndrome (RTT) is a developmental disorder that is caused

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 RARE DISEASES AND ORPHAN PRODUCTS by mutations in a gene on the X chromosome; research to identify other possible genetic contributors is ongoing. The condition, which is usually seen in girls, can create problems with learning, speech, mood, sensation, movement, breathing, cardiac function, and digestion. Landscape Analysis: Executive Summary (This text is used with permission and excerpted from http://www.rettsyndrome.org/ dmdocuments/ IRSF_LANDSCAPE%20ANALYSIS_2008-1.pdf.) Purpose and Format of the Rett Syndrome Landscape Analysis The Rett syndrome Landscape Analysis is designed to capture a coher- ent picture of research funding on Rett syndrome in the context of a basic research to clinical research continuum. This analysis was done to review and place into perspective the type of research funding provided by federal and private agencies, explore the overall pattern of research spending, de- termine where the bottlenecks lie and facilitate targeted funding for these areas. Overall, the purpose of this landscape analysis is to help identify exist- ing resources and anticipate the future needs of the research community, with a specific emphasis on translational research. Top-Line Summary of Landscape Analysis Results The MeCP2 gene considered responsible for the majority of cases of RTT was first identified in 1999 (Amir et al., Nat Genet. 1999). 272 RTT-related grants disbursed by 8 public (including 8 NIH institutes) and 5 private institutions over this past decade and representing $107.5 MM, were categorized using the Biomedical Research Classification Scheme specifically developed for this analysis. Each grant was mapped along a continuum from basic and etiologic research, through the stages of drug development and the clinical evaluation of treatments. The scheme was also designed to codify a wide range of accompanying healthcare related areas including reagents, technologies and methodologies that complement and facilitate this process. This exercise was undertaken in order to develop a snapshot of RTT research spending over the past decade and permit a detailed analysis of the research funded in this field. Public agencies contributed 77% of all funds, 72% from the NIH alone; the US funded 88% of RTT research. 55% of private grants origi- nated at the IRSF, representing 12.7% of total funding. 82% went toward etiological research in general and 0.5%, or $500K, went toward treatment

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 APPENDIX F development, all of which came from the IRSF. Research in this field is significantly under-resourced, even by comparison with related disorders, however basic disease research for RTT is relatively well funded. The majority of resources (53%) went towards the identification or validation of drug targets after which there are few grants. This is a reflection of the lack of RTT programs that have advanced into treatment development and evaluation and is largely due to the complexity of targeting MeCP2 and the number of its target genes. Conclusions Analysis of research spending for RTT over the past ten year period revealed a clear bottleneck in the translation of basic research findings into the development of novel therapies to treat the disease. This bottleneck is illustrated by a steep decline in funding beyond the target validation stage of the drug discovery and development process. While it is clear there is still much to be learned regarding the complex biology of MeCP2, this analysis nevertheless underscores a need for future funding to be directed towards specific programs and resources that will help alleviate the current obstacles to translation and facilitate treatment development for RTT. EXAMPLE 2 DEVELOPING A RESEARCH AGENDA: ALPHA-1 FOUNDATION The Alpha- Foundation was founded in  by three people with Alpha- Antitrypsin Deficiency (AAT Deficiency or Alpha-). Alpha- is genetic condition that is highly variable. Some individuals may have no or few symptoms whereas others may develop serious lung or liver disease. As described on its website, the foundation seeks to provide “the leader- ship and resources that will result in increased research, improved health, worldwide detection, and a cure for Alpha-.” The research section of its website describes the group’s research portfolio and grant opportunities, provides information about its patient registry and DNA and tissue bank, and provides links to information about research findings, research centers, scientific meetings, and other resources. It also provides a description of the group’s research agenda. Research Agenda (This text is used with permission and excerpted from http://www.alpha-1foundation.org/researchers/?c=02-Research-Agenda.) The Alpha-1 Foundation has spent considerable time and resources to

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 RARE DISEASES AND ORPHAN PRODUCTS devise a feasible and relevant research agenda. The process started at the strategic planning level, a formal exercise that the Foundation completed in 2000. This global evaluation of the Foundation’s programs and research activities included input from both the existing AAT research network as well as input from a wide range of associated organizations and experts. This strategic planning process included sessions involving focused planning groups, scientists, government representatives of the National Institutes of Health, Food & Drug Administration and written comments from the Center of Disease Control [and Prevention], and input from other Volun- tary Health Agencies who are represented on the National Health Council. During the numerous strategic planning sessions, the major research foci were identified as well as gaps in scientific knowledge that needed to be addressed by further research. The second stage in devising a research agenda involved the Alpha-1 Foundation’s Medical and Scientific Advisory Committee (MASAC), the Foundation’s primary medical advisory body, to evaluate the research areas identified by the strategic planning process on a regular (annual) basis. In 2001, an ad hoc committee was appointed by MASAC to carefully review the suggested research foci that were identified in the strategic planning process, and place these recommendations within the context of what is feasible to achieve scientifically with current expertise and technology. The ad hoc committee produced the research agenda shown below and it serves as a working document used by the grants award program for prioritizing the relevance of grant applications to the Foundation’s overall research goals. The use of the strategic plan and research agenda for evaluation of grant applications is only one use envisioned for the research agenda docu- ment. It has also been utilized to identify the most relevant topics for their critical issue workshops. [Note: Some details for the lists below are not included.] Basic Research: Identifying Targets & Developing Therapeutic Approaches • Molecular biology of alpha-1 antitrypsin (AAT) expression • Lung-Focused Research • Liver-Focused Research • Technology Development Clinical Research: Identifying Alphas & Defining the Natural History of AAT Deficiency • Epidemiology of AAT deficiency • Modifier genes affecting lung and liver in AAT deficient individuals

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 APPENDIX F • Role of inflammation in the pathogenesis of AAT lung disease • Establishment of effective clinical outcomes measures in AAT deficiency • Quality of life, healthcare utilization, and symptom management • Environmental modifiers of lung and liver disease in AAT deficient individuals • Clinical manifestations of AAT deficiency other than in the lungs and liver Translational Research: Evaluating Novel Therapeutic Approaches • Alpha-1 antitrypsin replacement therapy • Improving outcomes in lung and liver transplant recipients • Treatment of pulmonary hyperinflation • Anti-inflammatory therapy • Small molecule antiprotease therapy • Gene therapy • Chemical chaperone therapy Ethical, Legal & Social Issues Research: Eliminating Barriers for Alphas • Newborn testing/screening • Targeted detection • Social dimensions of A1ATD • Equitable distribution of medical therapies EXAMPLE 3 CREATING A DRUG DEVELOPMENT ARM: CYSTIC FIBROSIS FOUNDATION The Cystic Fibrosis Foundation (founded in  as the National CF Re- search Foundation) was one of the earliest advocacy groups to develop and fund a systematic research strategy. Effective symptomatic therapies, some emerging from foundation-funded research, have significantly increased life expectancy for this genetic disease that affects the lungs and digestive system. In 0, the foundation created a network of academic research centers. In 000, the foundation created Cystic Fibrosis Research Founda- tion Therapeutics, a nonprofit research affiliate, to oversee drug discovery and development activities.

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 RARE DISEASES AND ORPHAN PRODUCTS Cystic Fibrosis Foundation Therapeutics (This description is used with permission and excerpted from http://www.cff.org/research/CFFT/.) Established in 2000, Cystic Fibrosis Foundation Therapeutics, Inc. (CFFT) is the non-profit drug discovery and development affiliate of the Cystic Fibrosis Foundation. CFFT supports and governs activities related to cystic fibrosis (CF) drug discovery through the many stages of drug de- velopment and clinical evaluation. The CF Foundation provides support to fund CFFT’s operations, spe- cifically the Therapeutics Development Program. Sound investment by the Foundation in cutting edge science has built an extensive base of knowledge about this disease. Some of these ideas have already led to innovative new therapies now in the Drug Development Pipeline. In fact, one way to look at the wide-ranging and diverse science sup- ported by the CF Foundation and its affiliate, CFFT (more than $66 mil- lion in 2005), is to think that each study could be a step toward a new CF therapy. Molecular biologists, cell physiologists and immunologists, for example, all ask the same question: How does this study lead to a potential CF therapy or the cure? Seeking the answers drives the research advances forward to improve the lives of individuals with CF. Therapeutics Development Program To bridge the gap between what has been learned in the laboratory and the evolution of new therapies, the Therapeutics Development Program was created. This model initiative has the infrastructure in place to support a virtual “pipeline” of CF therapeutics development from the discovery phase through several stages of clinical evaluation. Despite the increasing age of survival, people with CF continue to need new medications to reduce the effects of their disease until the cure is found. Therefore, the CF Foundation and its affiliate, CFFT, strive to maximize the number of innovative drugs being developed because, on average, only one in five compounds will successfully make it through clinical trials all the way to the patient. Increasing the number of promising compounds increases the odds of success! Such investment by a voluntary health organization is unprec- edented and has already served as a model for others to follow. How the Program Works Through the Therapeutics Development Program, CFFT offers match- ing research awards to scientists, as well as access to a specialized network

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 APPENDIX F of CF clinical research centers. These awards provide support for the drug discovery phase through several stages of evaluation to complete the full- length drug development pipeline. This is a win-win equation—the Therapeutics Development Program provides companies and academia with a powerful new opportunity to have investment capital during the early phases of drug research. And, it ensures the availability of new potential compounds for clinical investigation for the CF community. Current estimates suggest that it costs more than $800 million to move a drug from its concept stage to the market place. There is a critical need to help provide support to pharmaceutical and biotechnology companies that conduct drug discovery and early-stage clinical evaluation studies in small population diseases such as CF. Even with incentives, such as the Orphan Drug Tax Credit (that encour- ages investment in orphan diseases like CF, which affect patient populations of less than 200,000), the fact remains that pharmaceutical companies must first secure the financial resources to invest in these diseases. Further, with increasing demands being placed on pharmaceutical and biotechnology companies, especially the small “start-ups,” investors are often hesitant about making major capital investments for orphan disease- classified drugs. The Therapeutics Development Program attracts research- ers to the CF drug development process and shows a level of commitment unrivaled by any other voluntary health organization. Opportunities Abound As the understanding of the science of CF increases, there is a corre- lated growth in the number of opportunities to discover and develop new potentially lifesaving therapies. Today, there are early phase trials underway in CF gene therapy, protein-assist therapy, as well as studies testing anti- infective drugs, and anti-inflammatory drugs. With the increasing number of potential drugs and an innovative network of specialized clinical trial centers to evaluate them, the future for those battling CF has never been brighter. EXAMPLE 4 ACCESS TO RESEARCH TOOLS: SPINAL MUSCULAR ATROPHY FOUNDATION The Spinal Muscular Atrophy Foundation (SMAF), founded by the parents of a child with the condition, began operations in 00 to help accelerate the development of a cure or treatment for the disease. SMA is an inherited disease that is characterized by muscle atrophy and loss of motor function.

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0 RARE DISEASES AND ORPHAN PRODUCTS It generally develops in infancy or childhood; different types vary in sever- ity and prognosis. The SMA Foundation works to achieve its mission by encouraging alliances between academia, government, and pharmaceutical and biotechnology companies; increasing government support; and in- creasing awareness of the disease among government, pharmaceutical and biotechnology companies, and the public. Its website includes information on its research programs and funded projects as well as other resources, including a page with links to various research tools. Research Tools (This material is used with permission and excerpted from the upcoming revision of the information at http://www.smafoundation.org/research-tools-portfolio.html.) As part of our mission to accelerate treatments for SMA, the SMA Foundation has engaged in licensing and/or developing animal models and other research tools to make them available as resources for the community. These assays and animal model resources are described below and also include listings of licenses, SMA patents and antibodies, websites for other organizations serving the SMA community, as well as information on the biology and genetics of SMA. SMN ELISA The SMN (human), ELISA Kit is a complete kit for the quantitative determination of SMN in cell lysates of human origin. The kit was devel- oped in collaboration between the SMA Foundation and Enzo Life Sciences Inc. The assay is currently validated for the detection of SMN protein levels in human Peripheral Blood Mononuclear Cell (PBMC) lysates. Additional protocols for human and mouse tissues and fluids are currently under de- velopment to measure SMN protein. A limited number of SMN ELISA kits are currently available to researchers and request forms may be obtained through the Foundation. The SMA Foundation encourages the sharing of protocols and feedback from using the ELISA kit to make this a more ef- fective tool for the SMA community. Animal Models There are several SMA mouse models available. Many of these models are genetically modified to be deficient in mouse SMN protein and also have varying types and amounts of human SMN genes introduced to their genome in an effort to recapitulate a range of disease features and severities seen in patients. The Foundation is actively engaged in developing in vivo

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 APPENDIX F drug testing platforms in SMA mice and testing experimental therapies in these animals. • Surveying SMA Therapeutic Candidates at PsychoGenics The SMA Foundation and PsychoGenics have developed a stan- dardized platform for in vivo drug testing in a severe model of SMA which includes analysis of survival and motor function. Par- ties interested in having compounds with strong rationale for ef- ficacy in SMA tested in this platform may contact the Foundation at researchtools@smafoundation.org for more information. • The Jackson Laboratories The SMA Foundation has partnered with Regeneron Pharmaceu- ticals to engineer an SMA Allelic Series of mice that have different copy numbers of chimeric human/mouse SMN2 genes and human SMN2 (designated as lines A-D). These mice have been deposited at Jackson Labs and mice with severe to moderate phenotypes are now available; mice with the mildest phenotypes and combinations of these alleles will be available in late 2010. In addition, condi- tional SMN rescue allele mice are also in development at Jackson Labs. A table of the SMA allelic series lines is provided below and will be updated as more lines become available. Licenses The SMA Foundation has entered into licensing agreements with sev- eral Institutions in order to facilitate access to critical research tools, while giving the Inventors and Institutions acknowledgment of key contributions and fair compensation for their intellectual property. The Foundation of- fers the opportunity to obtain sublicenses for the research and therapeutics development tools listed in the section below. The portfolio is designed to reduce or eliminate barriers for drug discovery efforts and to accelerate the development of a treatment for SMA. For more information, please contact us at researchtools@smafoundation.org. • University of Wuerzburg Certain SMA mouse models deficient in SMN mRNA and protein due to the targeted mutation Smntm1Msd • The Ohio State University Certain SMA mouse models that are deficient in mouse SMN mRNA and protein as above, but including human SMN transgenes Patents: [Note: Links to European Patient Office and U.S. Patent and Trade- mark Office omitted]

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 RARE DISEASES AND ORPHAN PRODUCTS Antibodies: • For a spreadsheet that gives basic information about antibod- ies used in SMA research, please click here. Reviews and comments on these antibodies have been gathered from SMA researchers by the SMA Foundation. • If you have any experience with antibodies used in SMA research, we strongly encourage you to share reviews or comments on their general usefulness and reliability, applications tested and dilution notes. For infor- mation on how to provide comments or updates, please email the SMA Foundation at researchtools@smafoundation.org. Other SMA Community Resources: [Note: links to advocacy organizations omitted] Other Clinical Resources on SMA: • National Institute of Neurological Disorders and Stroke (NINDS) Information Page on SMA • MedlinePlus Information on SMA • GeneClinics Clinical Review of SMA • Genetic Testing Resources from GeneTests • Columbia University Medical Center Spinal Muscular Atrophy Clinical Research Center • Treat-NMD Clinical Research Initiatives in Europe Scientific Literature Resources: • SMA Foundation Bibliography at http://www.smafoundation.org/ bibliography EXAMPLE 5 FRIEDREICH’S ATAXIA RESEARCH ALLIANCE The Friedreich’s Ataxia Research Alliance (FARA) raises funds for scientific research on the disease with a focus on translational and clinical research and on national and international public-private collaborations and part- nerships. It also maintains a patient registry and encourages collabora- tion and information sharing through scientific conferences and meetings. Friedreich’s ataxia (FA) is a debilitating, life-shortening degenerative neuro- muscular disorder that causes loss of coordination and strength in all four limbs necessitating the use of a wheelchair. Symptoms develop in children or adults and affect about  in 0,000 people in the United States. Although

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 APPENDIX F symptoms vary, it often leads to diminished vision, hearing and speech, dia- betes, scoliosis, and cardiomyopathy. FA ultimately leads to early death. Scientific Conference Program (This material is used with permission and excerpted from http://www.curefa.org/conference.html.) FARA has organized and supported a number of scientific conferences to keep the field informed of research progress and build collaborations and synergistic connections between FA researchers. FARA’s International Scientific Conference on Friedreich’s Ataxia has grown over its three itera- tions demonstrating the remarkable research advances into the underlying mechanisms of FA and increased interest within the scientific research community. Upcoming Conference 4th International Friedreich’s Ataxia Scientific Conference Dates: May 5th – May 7th, 2011 Location: Institute of Genetics and Molecular and Cellular Biology IGBMC—Strasbourg, France Information coming on the preliminary agenda, program sessions, abstracts, registration, sponsorship. Abstracts will be due December 1, 2011 Conference History On the day following FARA’s incorporation, the new organization sub- mitted a grant application to the National Institutes of Health (NIH) for the first International Scientific Conference on Friedreich’s Ataxia convened April 1999. 1999—1st FARA International Conference (3 days) 80 scientists from around the world 2003—2nd FARA International Conference (5 days) 100 scientists from 12 countries 2006—3rd FARA International Conference (3 days) 150 scientists from 12 countries [Note: The web page also has research abstracts from the meetings.] In the interim time between its International Conferences on Friedreich’s Ataxia, FARA helped support the Ataxia Investigators Meeting held in 2006 and 2008.

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 RARE DISEASES AND ORPHAN PRODUCTS Summit Meetings FARA has also convened summit meetings to focus on significant areas of FA research such as cardiology and mitochondrial function. Such meet- ings facilitate in-depth discussions among experts and advance a specific research need. Cardiac Summit During the Cardiac Summit, held in 2007, leading cardiologists and researchers gathered to discuss FA related cardiology issues. One of the primary outcomes of this meeting was the documentation of gaps in knowl- edge regarding cardiac disease in FA and the assignment of research teams to begin work in these areas. A full list of outcomes can be found in the right hand column. To further support these efforts, FARA and the Ameri- can Heart Association have entered a partnership agreement to co-fund grants. [Note: A second Cardiac Summit was held on June 11, 2010.] Mitochondrial Summit FARA also co-sponsored a Mitochondrial Summit with the Muscular Dys- trophy Association, on May 20-21, 2008, to share and discuss approaches, insights, and mechanisms that suggest new therapeutics for mitochondrial neurodegenerative diseases. Therapeutics Symposium More than 100 FA researchers and our advocacy partners from around the world gathered July 15-17, 2009 for the FA Therapeutics Symposium in Philadelphia, PA. Presentations and discussions highlighted: • progress in the development of previously identified therapeutic candidates, such as HDACI and TAT-Frataxin results from clinical trials including the Phase I study of A0001 and Phase III of Idebenone; • recent discoveries that point to new therapies; • advancements in new cell models and drug discovery and develop- ment assays; and • clinical research including biomarker studies and new clinical out- come measures.

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 APPENDIX F EXAMPLE 6 FUNDING RESEARCH FELLOWSHIPS: SCLERODERMA RESEARCH FOUNDATION The Scleroderma Research Foundation (SRF) was created in  by a woman diagnosed with the condition who set out to raise awareness of the condition and stimulate research on a little-studied disease. The orga- nization’s website describes a research strategy that emphasizes scientific collaboration and establishment of clinical research centers to support both research and training. One element of its research strategy is at- tracting promising new investigators to study this complex, variable, and often debilitating and even life-threatening disease. Scleroderma is generally characterized as a rheumatic disease of the connective tissue that produces fibrosis and inflammation. Although collectively it is not uncommon, some forms qualify as rare. Fellowship Program (This material is used with permission and excerpted from http://www.srfcure.org/about-us; http://sclerodermaresearch.org/ research/fellowship-program; and http://www.srfcure.org/research/ research-fellowship-grants/post-doctoral-fellowship-guidelines.) . . . Knowing that future discovery will come from the next genera- tion of scientists, the SRF continues to provide grants to young investiga- tors. Postdoctoral fellowship grants allow researchers to enter the field of scleroderma research and work alongside established investigators. As an indicator of success, several SRF-funded fellows are now dedicating their early careers to the field of scleroderma research. . . . The Scleroderma Research Foundation’s Postdoctoral Fellowship pro- gram funds grants aimed at focusing talented young investigators on spe- cific research questions in the nation’s top laboratories. It has become a central element to the overall research effort, leveraging the momentum of SRF core research projects and bringing bright young scientists to sclero- derma research. The SRF endeavors to support their interest in dedicating their early careers to scleroderma research—ideally providing the tools, relationships and knowledge that will allow them to become the next gen- eration of leaders in the field. The SRF has funded Postdoctoral Fellows in the laboratories of nationally respected senior scientists. . . . Application Guidelines The Scleroderma Research Foundation is dedicated to bringing talented early-career scientists to scleroderma research. The Scleroderma Research Foundation Fellows Program aims to attract outstanding postdoctoral fel-

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 RARE DISEASES AND ORPHAN PRODUCTS lows with strong records of accomplishment, who have a clear sense of direction and/or novel idea they wish to develop in the field of scleroderma research. In particular, the SRF encourages exploration of new approaches and hypotheses on the pathogenesis of scleroderma. Up to two, two-year postdoctoral fellowships in scleroderma research will be awarded, with a stipend of $35,000-$55,000 to support the candi- date. Funding support from the SRF is in the form of a grant. Mission of the Scleroderma Research Foundation In its mission to find a cure for scleroderma, the Scleroderma Research Foundation seeks to advance research by: promoting collaboration and cross-institutional cooperation among scientists in a variety of disciplines; attracting promising new scientists to scleroderma research; maintaining scleroderma Centers of Excellence; and bringing new technology and think- ing to the field of scleroderma research. Eligibility Requirements • U.S. citizen or permanent resident • Completion of Ph.D. or M.D. prior to appointment Sponsorship Before submitting a fellowship application, the applicant must identify a sponsoring institution and an individual who will serve as a sponsor and will supervise the training and research experience. The sponsoring institu- tion may be private or public non-profit. The applicant’s sponsor should be an active investigator in the area of the proposed research who will directly supervise the candidate’s research. The sponsor must document the availability of staff, research support, and facilities for high-quality research training. [Note: Sections on Accountability, Scientific Conduct and IRB Approval, Application Procedure, and Submission Deadline omitted.] Review Considerations Completed applications will be evaluated by the SRF Scientific Advisory Board. Fellows will be selected on the basis of previous achievements, the commitment of the applicant, sponsor and sponsoring institution to sclero- derma research, the scientific and technical merit of the research proposal, and the relevance of the proposal to the SRF’s ongoing research program.