FRIEDREICHS ATAXIA RESEARCH ALLIANCE
533 W UWCHLAN AVENUE, DOWNINGTOWN, PA 19335 www.curefa.org

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Organizations Filed Purposes: TO MARSHAL AND FOCUS THE RESOURCES AND RELATIONSHIPS NEEDED TO CURE FA BY RAISING FUNDS FOR RESEARCH, PROMOTING PUBLIC AWARENESS AND ALIGNING SCIENTISTS, PATIENTS, CLINICIANS, GOV'T AGENCIES AND PHARMACEUTICAL COMPANIES DEDICATED TO CURING FA AND RELATED DISORDERS.

TO TREAT AND CURE FRIEDREICH'S ATAXIA (FA) BY ADVANCING RESEARCH, AWARENESS AND PARTNERSHIPS.

RESEARCH AND GRANT PROGRAMFARA DEPLOYS FINANCIAL RESOURCES TO ACCELERATE RESEARCH FOR FRIEDREICH'S ATAXIA (FA). IN 2020, FARA AWARDED OVER $6 MILLION IN RESEARCH FUNDING. THIS INCLUDED MORE THAN 34 ACTIVE RESEARCH PROJECTS THROUGH FARA'S INVESTIGATOR-INITIATED GRANT PROGRAM AS WELL AS SUPPORT FOR INSTITUTIONAL BASED RESEARCH AND FARA DIRECTED PROJECTS. EIGHTEEN NEW GRANTS WERE FUNDED AFTER PEER REVIEW THROUGH OUR INVESTIGATOR-INITIATED GRANT PROGRAM AND SEVEN APPROVED IN PREVIOUS YEARS RECEIVED CONTINUED FUNDING. THIRTEEN OF THE EIGHTEEN NEW GRANTS FUNDED WERE TO INVESTIGATORS WHO HAVE NEVER RECEIVED A FARA GRANT, INCLUDING 3 JUNIOR INVESTIGATORS, THEREBY EXPANDING THE COMMUNITY'S RESEARCH EXPERTISE. CURRENTLY, RESEARCHERS IN 10 COUNTRIES ARE RECEIVING FUNDING FROM THE FARA RESEARCH GRANT PROGRAM. SEVERAL OF THESE GRANTS WERE CO-FUNDED WITH OUR FA ADVOCACY GROUP PARTNERS; THIS COLLABORATIVE APPROACH BOTH INCREASES THE NUMBER OF AVAILABLE RESEARCH DOLLARS AND HELPS TO MINIMIZE DUPLICATION OF EFFORT.FARA HAS IDENTIFIED OPPORTUNITIES TO FUND RESEARCH AT INSTITUTIONS WHERE THERE ARE MULTIPLE INVESTIGATORS WITH AN EXPERTISE AND COMMITMENT TO FA RESEARCH AND/OR OPPORTUNITY TO LEVERAGE TECHNOLOGIES, INNOVATION OR NEW GROWTH TO THE FA COMMUNITY. BY ESTABLISHING THESE INSTITUTIONAL FUNDING PROGRAMS WE ARE ABLE TO PROMOTE COLLABORATION AND SYNERGY ACROSS BASIC, TRANSLATIONAL AND CLINICAL RESEARCH, PROVIDE A LONGER TERM COMMITMENT FOR RESEARCH, ATTRACT NEW INVESTIGATORS, AND LEVERAGE THE INSTITUTIONS RESOURCES AND ENGAGEMENT. FARA PROVIDES INSTITUTIONAL BASED RESEARCH SUPPORT FOR THE FA CENTER OF EXCELLENCE AT PENN MEDICINE/ CHILDREN'S HOSPITAL OF PHILADELPHIA AND THIS YEAR ESTABLISHED THE FA ACCELERATOR PROGRAM AT THE BROAD INSTITUTE. FARA DIRECTED PROJECTS ARE RESEARCH INITIATIVES IDENTIFIED AND LEAD BY FARA'S SCIENTIFIC ADVISORY BOARD AND STAFF. ALL OF THESE RESEARCH PROJECTS ARE HIGH PRIORITY AS THEY AIM TO PROVIDE RESEARCH RESOURCES, ADDRESS SPECIFIC GAPS IN KNOWLEDGE OR DEEPEN OUR UNDERSTANDING OF DISEASE MECHANISM, PATHOLOGY, AND PROGRESSION AND DISCOVERY OF INNOVATIVE APPROACHES TO THERAPY. FRIEDREICH'S ATAXIA CENTER OF EXCELLENCE, PHILADELPHIA, PATHE FA CENTER OF EXCELLENCE (COE) IS A TRANSLATIONAL RESEARCH AND CLINICAL CARE CENTER DEVOTED TO FRIEDREICH ATAXIA: EXPEDITING BASIC SCIENCE AND DRUG DISCOVERY FINDINGS TO NEW TREATMENTS AND DEDICATING RESOURCES TO CLINICAL RESEARCH AND CARE TO FURTHER UNDERSTAND THE DISEASE, INFORM DRUG DEVELOPMENT AND IMPROVE OUTCOMES FOR INDIVIDUALS LIVING WITH FA. THE CENTER WAS ESTABLISHED IN MARCH 2014, WITH A COMMITMENT TO PENN MEDICINE/ CHILDREN'S HOSPITAL OF PHILADELPHIA, PRESENTED BY FARA IN PARTNERSHIP WITH THE HAMILTON AND FINNERAN FAMILIES. FARA HAS MAINTAINED THIS FUNDING PARTNERSHIP WITH THE CUREFA FOUNDATION (ESTABLISHED BY THE HAMILTON AND FINNERAN FAMILIES) TO ADVANCE RESEARCH THROUGH THE COE. PROJECTS AND INVESTIGATORS WITH CONTINUED FUNDING INCLUDED DR. ROB WILSON- DRUG DISCOVERY, DR. DAVID LYNCH- TRANSLATIONAL AND CLINICAL NEUROSCIENCE RESEARCH, DR. IAN BLAIR- BIOMARKER DISCOVERY, DR. KIM LIN- CARDIAC RESEARCH AND DR. SHANA MCCORMACK- METABOLISM AND ENDOCRINOLOGY AS WELL AS THE ADDITION OF DR. JENNIFER PHILLIPS CREMINS- GENETIC MODELING IN 2020.THE COE ESTABLISHED RESEARCH INFRASTRUCTURE CONSISTING OF FOUR CORE AREAS- NEUROLOGY, CARDIAC, BIOMARKER AND DRUG DISCOVERY. THE CENTER NOT ONLY SUPPORTS WORK WITHIN THESE DISCIPLINES, BUT ALSO FOSTERS EFFICIENT COLLABORATION AND SYNERGY ACROSS THEM. IN ITS FIRST SEVEN YEARS, THE COE REACHED SEVERAL SIGNIFICANT RESEARCH MILESTONES WITH THE DISCOVERY OF POSSIBLE TREATMENT CANDIDATES, THE STUDY OF NEW BIOMARKERS TO MEASURE THE DISEASE, AND LAUNCH OF PROMISING NEUROLOGIC AND CARDIAC CLINICAL TRIALS AND STUDIES. FUNDING PROVIDED TO THE COE ENABLED EARLY RESEARCH FINDINGS WHICH HAS ALLOWED INVESTIGATORS TO APPLY FOR AND RECEIVE LARGER GRANTS FROM THE NATIONAL INSTITUTES OF HEALTH TO CONTINUE TO EXPAND THIS IMPORTANT WORK. FRIEDREICH'S ATAXIA ACCELERATOR AT THE BROAD INSTITUTE OF MIT AND HARVARDTHE FRIEDREICH'S ATAXIA ACCELERATOR AT THE BROAD INSTITUTE OF MIT AND HARVARD WAS ESTABLISHED IN AUGUST 2020. FUNDED BY FARA, IN COLLABORATION WITH THE CUREFA FOUNDATION AND ENDFA, THE ACCELERATOR IS CURRENTLY SUPPORTING THE WORK OF THREE WORLD CLASS SCIENTISTS AS THEY APPLY THEIR EXPERTISE TO THE DISCOVERY OF NEW APPROACHES THAT COULD LEAD TO TREATMENTS FOR FA. THE LEADER OF THE ACCELERATOR, VAMSI MOOTHA, A HOWARD HUGHES MEDICAL INSTITUTE INVESTIGATOR, AND HIS COLLABORATORS PREVIOUSLY DISCOVERED THAT LIMITED OXYGEN IN CELLS, OR HYPOXIA, REJUVENATES CELLS THAT LACK FRATAXIN. THE TWO OTHER FOUNDING INVESTIGATORS INCLUDE GARY RUVKUN, A PROFESSOR OF GENETICS AT HARVARD MEDICAL SCHOOL AND MASSACHUSETTS GENERAL HOSPITAL, WHO IS USING SIMPLE MODEL SYSTEM TO TEST DIFFERENT MOLECULES FOR THEIR ABILITY TO RESCUE FRATAXIN-DEFICIENT CELLS. DAVID LIU, WHO IS ALSO A HOWARD HUGHES MEDICAL INSTITUTE INVESTIGATOR, IS APPLYING NEW GENE EDITING TECHNOLOGIES TO DIRECTLY CORRECT THE GENETIC CAUSES OF FRIEDREICH'S ATAXIA. FARA DIRECTED RESEARCHIN 2020 FARA HAS SUPPORTED NEW DIRECTED RESEARCH PROGRAMS, HANDING OVER SPECIFIC UNANSWERED QUESTIONS TO EXPERTS AND ASSISTING THEM WITH THE METHODS NEEDED TO ANSWER THESE QUESTIONS. SEVERAL KEY INITIATIVES INCLUDE: 1. ESTABLISHED A REPOSITORY OF FA CELL LINES FOR RESEARCH HTTPS://SITES.UAB.EDU/THENAPIERALALAB/FRDA-CELL-LINE-REPOSITORY/ 2. PUBLISHED THE CNS WHITE PAPER, TO PROVIDE BETTER UNDERSTANDING OF THE AFFECTED AREAS IN THE NERVOUS SYSTEM AND OF THE COURSE OF NEUROPATHOLOGICAL CHANGES OVER TIME. THE PAPER IS OPEN ACCESS AT: HTTPS://DOI.ORG/10.1089/HUM.2020.264 3. LAUNCHED TRACK-FA, A GLOBAL NEUROIMAGING CONSORTIUM INITIATED IN 2020, A NATURAL HISTORY STUDY TO TRACK THE CHANGES IN THE BRAIN AND THE SPINAL CORD IN FA. PARTICIPATING CLINICAL SITES ARE IN USA, BRAZIL, AND GERMANY. 4. INITIATED A COLLABORATIVE EFFORT BETWEEN UNIVERSITY OF OKLAHOMA, UNIVERSITY OF ALABAMA, AND UNIVERSITY OF PENNSYLVANIA TO STUDY THE PRECISE MECHANISM OF THIS GENE SILENCING IN DIFFERENT TISSUES AND MODELS OVER TIME. 5. ASSEMBLED GLOBAL CLINICAL EXPERTS TO LEAD A RE-EVALUATION AND UPDATE TO THE CLINICAL MANAGEMENT GUIDELINES IN FA, NEW GUIDELINES ARE EXPECTED TO BE PUBLISHED IN 2021.OF NOTE, FA SHARES SIMILAR SYMPTOMS AND DISEASE MECHANISMS WITH OTHER DISEASES, BOTH RARE AND COMMON. RESEARCH INTO FA IS PROVIDING INSIGHTS AND ADVANCES IN OTHER DISEASES SUCH AS MITOCHONDRIAL DISEASES, MUSCULAR DYSTROPHIES, DIABETES, AND CARDIOMYOPATHY. A COMPLETE LIST OF 2020 FUNDED GRANTS CAN BE FOUND AT: CUREFA.ORG/GRANT-AWARDSA COMPLETE LIST OF 2020 PUBLICATIONS OF RESEARCH FUNDED BY FARA CAN BE FOUND AT: CUREFA.ORG/SCIENTIFIC-NEWS/FUNDED-RESEARCH

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 CAN INCLUDE THINGS 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 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. IN 2020, ABOUT 1000 INDIVIDUALS WITH FA PROVIDED UPDATED INFORMED CONSENT AND CLINICAL DATA AND THE FAGPR WAS USED TO RECRUIT FOR TWO CLINICAL TRIALS AND SEVERAL OTHER CLINICAL RESEARCH STUDIES. TO LEARN MORE, VISIT CUREFA.ORG/REGISTRY. COLLABORATIVE CLINICAL RESEARCH NETWORK IN FA (CCRN IN FA): THE CCRN IS AN INTERNATIONAL NETWORK OF 13 CLINICAL RESEARCH CENTERS THAT WORK TOGETHER TO ADVANCE TREATMENTS AND CLINICAL CARE FOR INDIVIDUALS WITH FRIEDREICH'S ATAXIA. HAVING SUCH A NETWORK MEANS THAT THERE ARE TRAINED PHYSICIANS AND RESEARCH COORDINATORS READY TO DO CLINICAL RESEARCH STUDIES AND TRIALS. ALSO, THIS NETWORK IS BACKED BY A DATA COORDINATION CENTER THAT FACILITATES ALL ASPECTS OF DATA COLLECTION, DATABASE MANAGEMENT, AND STATISTICAL ANALYSIS OF STUDY DATA. TO LEARN MORE AND REVIEW A LIST OF RESEARCH PUBLICATIONS, VISIT CUREFA.ORG/NETWORK.HTMLNATURAL HISTORY STUDY: LONGITUDINAL DATA (USUALLY ABOUT 10 YEARS) ON INDIVIDUALS WITH A DISEASE THAT DESCRIBES AND QUANTIFIES THE PROGRESSION OF THE DISEASE ALONG WITH THE SYMPTOMS AND MANIFESTATIONS OF THE DISEASE. NATURAL HISTORY CAN SOMETIMES SERVE AS THE BASIS FROM WHICH MEASUREMENTS CAN BE MADE TO DETERMINE EFFECTS OF NEW TREATMENTS, DRUGS OR INTERVENTIONS.CLINICAL OUTCOME MEASURES: FUNCTIONAL PERFORMANCE TESTS (E.G., TIMED PEGBOARD OR WALK TESTS, VISION, HEARING OR SPEECH TESTS) THAT QUANTIFY HOW MUCH CHANGE TAKES PLACE IN A SPECIFIC AMOUNT OF TIME AND ARE USED IN CLINICAL TRIALS TO MEASURE WHETHER A DRUG IS ALTERING THE COURSE OF THE DISEASE.BIOMARKERS: ANYTHING THAT CAN BE USED AS AN INDICATOR OF A PARTICULAR DISEASE STATE - USUALLY PROTEINS, ENZYMES, GENETIC VARIANTS, IMAGING (MRI, CT OR PET SCANS). BIOMARKERS CAN BE USED TO ASSESS RISK OF DISEASE, DIAGNOSIS, OR OUTCOMES. USE OF BIOMARKERS IN DRUG DEVELOPMENT IS OF GREAT INTEREST BECAUSE BIOMARKERS CAN PROVIDE EVIDENCE OF BIOLOGICAL ACTIVITY, POTENTIALLY DEMONSTRATING THERAPEUTIC BENEFIT MORE QUICKLY THAN TRADITIONAL OUTCOME MEASURES. BIOREPOSITORY: A REPOSITORY OR BANK OF STORED BIOLOGICAL MATERIALS SUCH AS BLOOD SAMPLES, DNA, ORGANS, AND TISSUES (SUCH AS SKIN, MUSCLE, HEART) THAT CAN BE USED FOR RESEARCH.THROUGH THE CCRN IN FA WE HAVE COLLECTED NATURAL HISTORY DATA (ONGOING) IN MORE THAN 1,100 INDIVIDUALS WITH FA, VALIDATED CLINICAL OUTCOME MEASURES AND THE FARS SCALE, STUDIED SPEECH, VISION AND HEARING, LAUNCHED BIOMARKER STUDIES, ESTABLISHED DNA AND RNA REPOSITORIES, AND PROVIDED MANY BLOOD SAMPLES TO RESEARCHERS AROUND THE WORLD. THE CCRN IN FA INVESTIGATORS HAVE BEEN INVOLVED IN MULTIPLE CLINICAL TRIALS INCLUDING A FEW THAT WERE DESIGNED AND CONDUCTED SOLELY THROUGH NETWORK SITES. CRITICAL PATH INSTITUTE DATA COLLABORATION PROJECTIN 2017, FARA INITIATED A PROJECT WITH CRITICAL PATH INSTITUTE'S (C-PATH) DATA COLLABORATION CENTER (DCC) TO DEVELOP AN AGGREGATED DATABASE OF CLINICAL DATA FOR FA. USE OF THIS DATABASE WILL PROMOTE COLLABORATIVE RESEARCH TO SUPPORT THE UNDERSTANDING OF NATURAL HISTORY, POTENTIAL BIOMARKERS, AND POTENTIAL CLINICAL ENDPOINTS FOR PATIENTS WITH FA, WHICH WILL HELP RESEARCHERS DEVELOP MORE EFFICIENT CLINICAL TRIAL PROTOCOLS TO TEST NEW THERAPIES MORE QUICKLY AND EFFECTIVELY. SIX DE-IDENTIFIED DATASETS FROM PREVIOUS CLINICAL TRIALS AND FA-CLINICAL OUTCOME MEASURE DATASETS HAVE BEEN AGGREGATED INTO A SINGLE DATABASE (FA-ICD) IN A SCIENTIFICALLY RIGOROUS MANNER BY C-PATH'S DCC. AS OF DECEMBER 31, 2020 THIS DATA WAS SHARED WITH >18 RESEARCH ORGANIZATIONS (ACADEMIC AND INDUSTRY) TO FURTHER UNDERSTAND THE CLINICAL PHENOTYPE, NATURAL HISTORY, OUTCOME MEASURES AND TO ASSIST IN DESIGNING CLINICAL TRIALS. ALSO IN 2020, THE FA-ICD BECAME PART OF THE RARE DISEASE CURES ACCELERATOR - DATA AND ANALYTICS PLATFORM (COLLABORATIVE PLATFORM ESTABLISHED BY C-PATH, NORD AND FDA) WHERE THERE IS BETTER SEARCH AND ANALYTIC FUNCTIONS AND THE ABILITY TO LOOK AT FA DATA SET IN COMBINATION WITH DATA FROM OTHER DISEASES.ADDITIONAL INFORMATION ABOUT FARA'S PROGRAMS IN 2020 CAN BE ACCESSED VIA THE ANNUAL REPORT AT: CUREFA.ORG/FINANCIALS

EDUCATION, AWARENESS & OUTREACH PROGRAMSFRIEDREICH 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 CONDUCTED A SOCIAL MEDIA CAMPAIGN THAT ENCOURAGED COMMUNITY PARTICIPATION LEADING UP TO RARE DISEASE DAY AND FA AWARENESS DAY. THE FARA AMBASSADOR PROGRAM WHICH WAS LAUNCHED IN 2011 WITH >20 PARTICIPANTS HAD A YEAR OF CONTINUED GROWTH AND ACTIVITY IN 2020. THE PROGRAM NOW INCLUDES 87 PARTICIPANTS. THE MISSION OF THE FARA AMBASSADORS IS TO BE POSITIVE, SUPPORTIVE, PEER REPRESENTATIVES FOR THE FA COMMUNITY; ACTIVELY RAISING AWARENESS AND FUNDS FOR FARA. THE FARA AMBASSADOR PROGRAM MEMBERS ORGANIZE SERVICE PROJECT TEAMS INCLUDING:1. A BLOG TEAM THAT FACILITATES WEEKLY MEET THE COMMUNITY INTERVIEWS WITH PEOPLE LIVING WITH FA AND A MONTHLY MEET THE RESEARCHER INTERVIEW. 2. A CARD WRITING TEAM THAT WRITES PERSONALIZED CARDS TO SEND TO THE VARIOUS STAKEHOLDERS AND COMMUNITY MEMBERS THROUGHOUT THE YEAR TO SAY THANK YOU OR TO OFFER ENCOURAGEMENT. 3. A MONTHLY PEER ZOOM HANGOUT GROUPS FOR THE GREATER FA COMMUNITY TO ATTEND AND CONNECT WITH ONE ANOTHER ONLINE (ONE IS GEARED TO ADULTS, AND ONE IS FOR TEENS WITH FA). 4. A SOCIAL MEDIA TEAM THAT GENERATES ENGAGING CONTENT IN SUPPORT OF FARA INITIATIVES AND CAMPAIGNS. 5. A SPEAKING TEAM WHERE PARTICIPANTS PRACTICE TELLING THEIR STORY LIVING WITH FA ON BEHALF OF THE ORGANIZATION.AMBASSADORS AND OTHER PATIENT ADVOCATES WERE INVOLVED WITH FA PANEL PRESENTATIONS AT PHARMACEUTICAL COMPANIES WITH ACTIVE FA DRUG OR GENE THERAPY DEVELOPMENT PIPELINES. EACH PANEL IS COMPRISED OF PATIENTS AT VARIOUS AGES AND STAGES OF PROGRESSION FOR A COMPREHENSIVE PICTURE OF LIFE WITH FA. AMBASSADORS AND OTHER COMMUNITY REPRESENTATIVES CONNECTED WITH MANY OF FARA'S ACADEMIC AND INDUSTRY PARTNERS BY SERVING ON PATIENT PANELS AT FIVE PHARMA COMPANIES PURSUING THERAPY FOR FA AND TWO GENETIC COUNSELING PROGRAMS. FOR MORE INFORMATION VISIT CUREFA.ORG/AMBASSADORS FARA FACILITATED FORMAL TRAINING FOR THE AMBASSADOR LEADERSHIP TEAM AND AMBASSADORS. THE FOCUS FOR THE TRAINING WAS UNDERSTANDING THE DRUG DEVELOPMENT AND REGULATORY PROCESS. FARA ALSO HELPED TRAIN INTERESTED COMMUNITY MEMBERS BY PROVIDING A VIRTUAL PROGRAM ENTITLED "ENGAGING PATIENTS IN CLINICAL TRIAL DESIGN." LASTLY, FARA HOSTED A WEEKLY EDUCATIONAL WEBINAR SERIES IN MAY FOR FA COMMUNITY MEMBERS. THIS SERIES INCLUDED FLASH TALKS WHERE YOUNG INVESTIGATORS SHARED THEIR RESEARCH IN A SERIES OF 5 MINUTE TALKS ON TOPICS RANGING FROM UNDERSTANDING THE UNDERLYING MECHANISM OF DISEASE TO THERAPEUTIC APPROACHES TO CLINICAL OUTCOME MEASURES.

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