Friedreichs Ataxia Research Alliance Fara

Clinical research infrastructurein addition to research grants, fara funds the ongoing development of domain resources in the form of vital clinical research infrastructure. Clinical research infrastructure refers to the resources needed to facilitate any type of research, including clinical trials that involve patients. These resources include programs like: friedreich's ataxia global patient registry: the friedreich's ataxia global patient registry (fagpr) is the only worldwide registry of friedreich's ataxia patients. The goals of the fagpr are to collect information on all fa patients in one registry, to develop the registry into a powerful resource for research, and to engage the fa community in studies aimed at advancing our knowledge (continued in schedule o)clinical research infrastructure (cont'd):of fa and the treatments being developed. Fara partners with international patient advocacy organizations through a governance board to ensure multi-stakeholder engagement and oversight of the fagpr. More than 1000 individuals with fa are enrolled and fagpr was used to recruit for several clinical trials and many clinical research studies. To learn more, visit curefa.net/registry. Fa global clinical consortium: fara and the fa community's dedication to collecting natural history study data over the past two decades proved instrumental in the approval of the first-ever treatment for fa. Through the fa global clinical consortium (fa gcc), fara has redoubled its investment in natural history data by enabling the transition to an industry-leading data collection platform and a unified global natural history protocol (unifai) resulting from the harmonization of two well-established natural history studies, the fa clinical outcome measures study (fa-coms) and the european friedreich's ataxia consortium for translational studies (efacts). The fa gcc and the unifai study have been expanded to make patient contributions to natural history even more powerful in understanding fa, evaluating the impact of treatment options for fa, accelerating the development of new therapies and improving outcomes for those living with fa. At each unifai study visit there are more than 1400 data elements recorded. Over the last two years, the fa gcc had active participation from 54 investigators from 33 sites representing 18 countries along with representatives from patient advocacy and research organizations. Fa gcc research activities: the fa gcc leadership identified initial scientific priorities and created workgroups to address these priorities. The following work groups, each made up of 5-10 consortium members, met regularly to address gaps in current fa research: cardiac natural history, late-stage symptoms, pediatric / presymptomatic, bio-samples, mood and cognition, and patient advocacy/advisory team. Quarterly full group meetings serve as a platform for investigators to establish common research interests, form collaborations, and share their global experiences with omaveloxolone. Impact and future direction: the consortium has a long-term objective of fostering multilateral research and collaboration across continents, unifying global opinions to regulators and industry partners, accelerating the development of new therapies, and improving outcomes for those living with fa. Additional information about fara's programs in 2024 can be accessed via the annual report at: curefa.org

Awareness, education, and outreach programs:awareness: friedreich ataxia (fa) is a rare disease; affecting 1 in 50,000 individuals. Fara is dedicated to advocacy and raising awareness for fa. Fara has utilized both traditional and social media strategies to bring greater awareness to fa in the general public and to engage and educate the fa community. For example, fara conducts an annual a social media campaign that encourages community participation leading up to fa awareness day. Advocacy: fara and the national ataxia foundation (naf) partnered on several advocacy initiatives relevant to the ataxia community. Mostly notably, the efforts of the two organizations resulted in the continued inclusion of hereditary ataxia as part of (continued in schedule o)advocacy: (cont'd)the congressionally directed medical research program (cdmrp) at the department of defense in fiscal year (fy) 24, resulting in four hereditary ataxia research grants being recommended for funding totaling over $12 million. Fara and naf were also successful in getting a resolution passed declaring september 25, 2024 national ataxia awareness day and hosting the sixth united against ataxia hill day- with 94 congressional meetings featuring the participation of 113 fara and naf advocates from 32 states. Education: in an ongoing effort to share information and education, fara launched a new website in 2024. The site redesign prioritized the user experience for key stakeholders including patient families, researchers, and donors. The new site cointains up-to-date information on fa research including grants funded by fara, treatment approaches and programs in the drug development pipeline, research resources, and clinical trial opportunities. It also offers guidance for families navigating fa and opportunities to connect with others and get involved.engaging with stakeholders: as experts in living with fa, individuals and families shared their stories in many forums and to many audiences. In 2024, over 50 individuals from the fa community worked with fara to engage with pharmaceutical partners, researchers, future healthcare professionals, medicaid committees, and the food and drug administration at 33 different events. Their voices provide essential insights that advance meaningful and accessible treatments. Cultivating community: throughout 2024, fara worked to strengthen the fa community by facilitating opportunities for connection and collaboration through virtual and in-person events. Individuals new to the fa community had the opportunity to meet other fa families for the first time. The fara ambassador program, a group of adults with fa who volunteer to support fara's mission, grew to 100 members from countries around the world. Ambassadors now represent 14 countries globally plus 32 states throughout the us.to help further fara's awareness and outreach initiatives, fara also funded a grant for the creation of a documentary film about how the fa community unites to advance research. The film, under the working tile "the highest road," focuses on the fa community's role in helping to get the first drug approved for fa a story that is told in parallel with community members attempting to cycle up the highest paved road in india. The film is currently is post production with the aim to be shown in film festivals in 2026.

Workshops, symposia, & conferencesinternational congress for ataxia researchin november 2024, the international congress for ataxia research (icar) brought together over 600 researchers from around the world. It was the largest icar to date and a powerful example of how we accelerate progress when experts across different types of ataxia come together to share ideas and collaborate. Fara was honored to co-host the meeting along with ataxia uk, national ataxia foundation, and the ataxia global initiative.this year's program included a mix of plenary sessions, breakout workshops, and scientific debate. The debate sparked thoughtful discussion about the strengths of in vivo vs. In vitro research models and highlighted how both approaches help to move the science forward.some insights and learnings from icar 2024 included: 1. Discovering that frataxin activity can be boosted by targeting other components of the iron-sulfur cluster assembly reveals a potential new treatment pathway. 2. Some gaa repeat interruptions are more common than previously known, impacting carrier detection and opening new therapeutic opportunities. 3. Inflammation might contribute to nerve damage in fa. 4.capsid for an iv gene addition therapy reached key brain and heart areas in animal models 5. Multiple therapies across different mechanisms of action are showing early promise.fara also hosted five research receptions and symposiums to share information about the fa drug development pipeline, ongoing clinical trials, clinical management, and fara resources. Virtual education sessions included flash talks with fara-funded researchers, community conversation webinars with fara leadership, and information sessions with pharmaceutical partners.