2017-05-11T15:46:57-05:00 2016-12-31 231518888 MAILLIE LLP 624 WILLOWBROOK LANE WEST CHESTER PA 19382 990 2016-01-01 522122720 FRIEDREICH'S ATAXIA RESEARCH ALLIANCE FRIE 4848796160 PO BOX 1537 SPRINGFIELD VA 22151 JENNIFER FARMER EXECUTIVE DIRECTOR 4848796160 2017-05-10 1 EDWARD FRONCZKOWSKI CPA P01259092 6106964353 96.227.130.2 2017-05-10 12:23:13 ED P 6C9B1A35775087DBDB8A6D25ECA509C7F6C27838 BD5841FEA2E54BA7AF00302E734F02DECBD4A071 2016 2021-01-29 14:40:06Z JENNIFER FARMER 533 W UWCHLAN AVENUE DOWNINGTOWN PA 19335 7021269 0 X WWW.CUREFA.ORG X 1998 VA TO TREAT AND CURE FRIEDREICH'S ATAXIA BY ADVANCING RESEARCH, AWARENESS AND PARTNERSHIPS. 18 17 7 500 0 0 5701123 5388847 0 0 19427 47576 -2405 -54930 5718145 5381493 4750666 4852904 0 0 503463 463198 0 0 99383 367667 237062 5621796 5553164 96349 -171671 4057130 4110033 289961 484966 3767169 3625067 X 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. 0 0 4629368 4455203 RESEARCH & GRANT PROGRAM:IN 2016, FARA CONTINUED TO ACCELERATE THE PACE OF RESEARCH WITH A COMMITMENT TO FUNDING HIGH QUALITY RESEARCH PROJECTS TO MOVE US CLOSER TO EFFECTIVE TREATMENTS. IN TOTAL, FARA PROVIDED >$4.8M IN BASIC AND TRANSLATIONAL AND CLINICAL RESEARCH GRANTS, THE FRIEDREICH'S ATAXIA CENTER OF EXCELLENCE, SCIENTIFIC CONFERENCE SUPPORT AND CLINICAL RESEARCH INFRASTRUCTURE FUNDING. OVER THE PAST YEAR, 38 NEW LETTERS OF INTENT FOR FUNDING REQUESTS WERE SUBMITTED, 25 RESEARCHERS WERE INVITED TO APPLY FOR GRANT FUNDING, AND AFTER RIGOROUS PEER REVIEW, 15 WERE DETERMINED MERITORIOUS AND AWARDED FUNDING IN 2016. IN ADDITION, BASED ON EXCELLENT PROGRESS, CONTINUATION FUNDING WAS PROVIDED FOR 12 PROJECTS, FOR A TOTAL OF 27 RESEARCH GRANTS AWARDED. FARA ALSO AWARDED CONFERENCE GRANTS TO SUPPORT SCIENTIFIC MEETINGS WITH CONTENT FOCUSED ON FRIEDREICH'S ATAXIA. THESE FUNDED PROJECTS ADDRESS NUMEROUS IMPORTANT RESEARCH QUESTIONS THAT DIRECTLY TARGET FARA'S STRATEGIC RESEARCH INITIATIVES, INCLUDING EVALUATING OF MECHANISMS OF DISEASE, DRUG DISCOVERY, PRE-CLINICAL AND CLINICAL STUDIES OF LEAD CANDIDATES IN THE TREATMENT PIPELINE, ADVANCES IN GENE AND CELL THERAPY APPROACHES, ADVANCES IN DIFFERENTIATION OF INDUCED PLURIPOTENT STEM (IPS) CELL LINES FROM FA PATIENTS INTO SENSORY NEURONS AND CARDIOMYOCYTES, DEVELOPMENT OF NEW ANIMAL MODELS, CARDIAC RESEARCH AND EVALUATION OF NOVEL BIOMARKERS. SEVERAL ARE CO-FUNDED WITH OUR FRIEDREICH'S ATAXIA ADVOCACY GROUP PARTNERS; THIS COLLABORATIVE APPROACH BOTH INCREASES THE NUMBER OF AVAILABLE RESEARCH DOLLARS AND HELPS TO MINIMIZE DUPLICATION OF EFFORT. 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. 2016 FUNDED RESEARCH INITIATIVES: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 GIFT OF $3.25 MILLION (OVER 3 YEARS) TO PENN MEDICINE/ CHILDREN'S HOSPITAL OF PHILADELPHIA, PRESENTED BY FARA IN PARTNERSHIP WITH THE HAMILTON AND FINNERAN FAMILIES. PROJECTS AND INVESTIGATORS BEING FUNDED INCLUDE DR. ROB WILSON- DRUG DISCOVERY, DR. DAVID LYNCH- CLINICAL AND NEUROSCIENCE RESEARCH, DR, IAN BLAIR- METABOLIC BIOMARKERS, AND DR. KIM LIN- CARDIAC RESEARCH. 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 THREE 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. SOME BRIEF HIGHLIGHTS OF RESEARCH OCCURRING AT THE CENTER ARE PROVIDED BELOW:- CREATED A CARDIAC RESEARCH AND CLINICAL CARE CORE AND RECRUITED 3 CARDIAC STUDIES (CARDIAC MRI, SERUM BIOMARKERS AND EXERCISE TOLERANCE) WITH INTERNATIONAL COLLABORATION- CREATED A BIOMARKER CORE AND IDENTIFIED 3 NEW BLOOD BASED BIOMARKERS- CREATED A PATIENT-DERIVED CELL REPOSITORY IN COLLABORATION WITH DR. NAPIERALA AT UNIVERSITY OF ALABAMA BIRMINGHAM, CELL LINES ARE BEING SHARED WITH THE RESEARCH COMMUNITY, > 6 COMPANIES AND >3 ACADEMICS SOURCING CELLS FOR DRUG DISCOVERY AND RESEARCH.- ESTABLISHED 2 FA MOUSE MODEL COLONIES CURRENTLY TESTING DRUG CANDIDATES- ESTABLISHED A DRUG DISCOVERY CORE THAT ADVANCES INTERNALLY LED DRUG DISCOVERY AS WELL AS COLLABORATIONS WITH EXTERNAL PARTNERS. 3 NOVEL THERAPEUTIC DISCOVERIES- HELPED INFORM EARLY STAGE WORK AND CLINICAL DEVELOPMENT STRATEGY (TRIALS IN FA PATIENTS) FOR 3 DRUG DEVELOPMENT PARTNERS BY SHARING INSIGHTS FROM FA PATIENT STUDIES OF CARDIAC OUTCOMES, METABOLIC AND MUSCLE METABOLISM AND THE LONGITUDINAL NATURAL HISTORY STUDY - INITIATED TWO COE FUNDED CLINICAL TRIALS- A STATIN STUDY AND A STEROID STUDY. THE STATIN STUDY COMES OUT OF BIOMARKER WORK IN DR. BLAIR'S LAB. THE STEROID STUDY COMES FROM CLINICAL OBSERVATIONS THAT TREATMENT WITH STEROIDS HAS IMPROVED FUNCTION IN PATIENTS.BIOMARKER INITIATIVEBIOMARKERS ARE BIOLOGICAL MEASURES THAT INDICATE CHANGE IN A DISEASE, AND THEY HAVE THE POTENTIAL TO SHORTEN THE LENGTH OF CLINICAL TRIALS. FARA LAUNCHED AN INITIATIVE TO LOOK FOR NOVEL BIOMARKERS FOR FA, STARTING WITH A NOVEMBER 2014 MEETING WHERE EXPERTS CAME TOGETHER TO PRIORITIZE POSSIBLE MARKERS. THEY DETERMINED THAT WE NEED BIOMARKERS TO:- MEASURE DISEASE PROGRESSION (PARTICULARLY AT EARLY STAGES OF DISEASE)- MEASURE DRUG EFFECTIVENESS IN TERMS OF AFFECT ON PRIMARY MECHANISMS OF DISEASE OR A SPECIFIC TARGET- MEASURE DRUG EFFECTIVENESS AT TREATING SPECIFIC GROUPS OF SYMPTOMS, SUCH AS CARDIAC AND NEUROLOGICAL SYMPTOMS- IDENTIFY SUBSETS OF PATIENTS WITH IDENTIFIABLE GENOTYPIC OR PHENOTYPIC PROFILES LIKELY TO BENEFIT FROM SPECIFIC THERAPEUTIC APPROACHES IN A GIVEN PERIOD OF TIME. THERE ARE 4 MAIN AREAS OF INVESTIGATION WITH PROJECTS UNDERWAY (DESCRIBED BELOW):- FRATAXIN-PROTEIN, GENE EXPRESSION AND EPIGENETICS- NEUROLOGICAL-SENSORY/PERIPHERAL AND BRAIN- CARDIAC- METABOLICPROJECTS ONGOING AND COLLECTING DATA IN 2016 INCLUDE:TITLE: EARLY AND LONGITUDINAL ASSESSMENT OF NEURODEGENERATION IN THE BRAIN AND SPINAL CORD IN FRIEDREICH'S ATAXIA. UNIVERSITY OF MINNESOTATITLE: NEUROPHYSIOLOGIC BIOMARKERS IN FRIEDREICH'S ATAXIA. HOPITAL ERASME, BRUSSELS AND CHILDREN'S HOSPITAL OF PHILADELPHIA, PATITLE: IN-VIVO CONFOCAL IMAGING OF MEISSNER'S CORPUSCLES AS A BIOMARKER IN FRIEDREICH'S ATAXIA. UNIVERSITY OF ROCHESTER, NYTITLE: INTERSTITIAL FIBROSIS, THE RENIN-ANGIOTENSIN-ALDOSTERONE SYSTEM AND BIOMARKERS IN THE CARDIAC DISEASE OF FRIEDREICH ATAXIA. MURDOCH CHILDRENS RESEARCH INSTITUTE, AUSTRALIA AND CHILDREN'S HOSPITAL OF PHILADELPHIA, PATITLE: LONGITUDINAL MEASUREMENT OF GAIT AND BALANCE IN FRIEDREICH ATAXIA. MURDOCH CHILDRENS RESEARCH INSTITUTE, AUSTRALIA AND UNIVERSITY OF SOUTH FLORIDA, TAMPA, FLNEWLY AWARDED PROJECTS IN 2016TITLE: CLINICAL OUTCOME MEASURES OF EFFICACY IN TREATMENT OF FRIEDREICH'S ATAXIA. UNIVERSITY OF FLORIDA, FLTITLE: PROTEIN BIOMARKERS IN FRDA CARDIOMYOPATHY TO MONITOR DISEASE PROGRESSION AND THERAPEUTIC EFFICACY. DUKE UNIVERSITY, NCA FEW HIGHLIGHTED NEW RESEARCH GRANTS:2016 BRONYA J KEATS INTERNATIONAL RESEARCH COLLABORATION AWARD TITLE: DRUG RESCUE OF FRATAXIN-DEPENDENT NEURAL AND CARDIAC PATHOPHYSIOLOGY IN FA MODELS INVESTIGATORS: DR. GINO CORTOPASSI (UNIVERSITY OF CALIFORNIA, DAVIS), DR. PAOLA GIUNTI (UNIVERSITY COLLEGE LONDON), AND DR. MARK POOK (BRUNEL UNIVERSITY). THE OVERALL PROJECT OBJECTIVES ARE TO TEST SEVEN KNOWN DRUGS THAT HAVE BEEN THROUGH CLINICAL TRIALS IN HUMANS FOR THEIR ABILITY TO INCREASE FRATAXIN AND IMPROVE MITOCHONDRIAL FUNCTION IN THE CONTEXT OF FRATAXIN DEFICIENCY IN VITRO AND IN VIVO, TO DETERMINE THE MOST POTENT AS SINGLE DRUGS AND AS MIXTURES ON A COMMON PLATFORM. THIS WILL FACILITATE THE IDENTIFICATION OF POTENT SINGLE DRUGS ON A COMMON PLATFORM AND ALSO THE MOST EFFECTIVE COCKTAILS, WHICH COULD SPEED CLINICAL DEVELOPMENT. THE HYPOTHESIS IS THAT BY USING DRUGS THAT REVERSE MULTIPLE LEVELS OF FA PATHOPHYSIOLOGY, AN ADDITIVE OR SYNERGISTIC BENEFIT WILL BE OBTAINED IN TERMS OF MITOCHONDRIAL FUNCTION AND CLINICAL BENEFIT. THREE FUNCTIONAL CATEGORIES OF PROTECTIVE COMPOUNDS HAVE BEEN IDENTIFIED, INCLUDING THOSE THAT 1) INCREASE FRATAXIN EXPRESSION, 2) INCREASE MITOCHONDRIAL NUMBER OR FUNCTION OR BOTH, AND 3) INCREASE MITOCHONDRIAL IRON-SULFUR CLUSTER BIOGENESIS. THE GOAL OF THE PROJECT IS TO IDENTIFY THE MOST POTENT IN EACH CATEGORY, AND TO DETERMINE WHETHER MIXTURES HAVE ADDITIVE EFFECT ON OVERALL MITOCHONDRIAL FUNCTION AND BENEFIT IN A RELEVANT MOUSE MODEL. 100504 15700 RESEARCH CONFERENCES: FARA ORGANIZES AND SUPPORTS A NUMBER OF SCIENTIFIC CONFERENCES TO IMPROVE SHARING OF KNOWLEDGE, INSIGHTS AND ADVANCES AND BUILD COLLABORATIONS AND SYNERGISTIC CONNECTIONS BETWEEN FA RESEARCHERS. MARCH 2016 ATAXIA INVESTIGATORS MEETINGFARA WAS A SPONSOR FOR AND PARTICIPANT IN THE NATIONAL ATAXIA FOUNDATION'S ATAXIA INVESTIGATORS MEETING. THE MEETING BROUGHT TOGETHER OVER 150 ATAXIA INVESTIGATORS TO EXPLORE COMMON DISEASE MECHANISMS AND THERAPEUTIC STRATEGIES.MAY 2016 GENE THERAPY MEETING FARA HELD A FRIEDREICH'S ATAXIA (FA) GENE THERAPY SYMPOSIUM IN CONJUNCTION WITH THE AMERICAN SOCIETY OF GENE AND CELL THERAPY MEETING IN WASHINGTON DC IN MAY OF 2016. THE FOCUS OF THE FARA SYMPOSIUM WAS ON WHAT THE COMMUNITY COULD DO TOGETHER TO ADVANCE GENE THERAPIES FOR FA. THE AGENDA WAS SPLIT INTO THREE SECTIONS: 1) EXPRESSION OF FRATAXIN THROUGH GENE THERAPY, 2) TOOLS NEEDED TO DEVELOP GENE THERAPIES FOR FA AND 3) BIOMARKERS AND ENDPOINTS FOR FA CLINICAL TRIALS.THE GROUP DISCUSSED DATA GATHERED BY THE VARIOUS ACADEMICS AND COMPANIES IN ATTENDANCE RELATED TO THE MINIMAL AND MAXIMAL AMOUNT OF FRATAXIN THAT COULD BE PRODUCED AND BE EXPECTED TO BE THERAPEUTIC IN DIFFERENT CELL TYPES AND ANIMAL MODELS. THEY ALSO DISCUSSED WHICH TISSUES AND CELL TYPES IN THE BODY MIGHT NEED TO BE TARGETED BY GENE THERAPIES TO HAVE THE MAXIMAL EFFECT ON PATIENT OUTCOMES. THEY DISCUSSED SHARED PROTOCOLS, SHARED BANKED SERUM FOR TESTING IMMUNOLOGICAL REACTIONS TO VECTORS AND OTHER POTENTIAL AREAS WHERE COMPANIES COULD COLLABORATE, DESPITE BEING IN A COMPETITIVE SPACE. FINALLY, THERE WAS DISCUSSION OF THE ENDPOINTS AND BIOMARKERS CURRENTLY AVAILABLE AN IN DEVELOPMENT FOR FA. THE GROUP CONCLUDED THAT IT WANTED TO WORK TOGETHER TO TRY AND HAVE A MEETING WITH THE CENTER FOR BIOLOGICS EVALUATION AND RESEARCH (CBER) AT FDA TO INTRODUCE THE CONCEPT OF FA GENE THERAPY, AND RECOMMENDED TO FARA TO TRY AND HOLD AN EXTERNALLY LED PATIENT FOCUSED DRUG DEVELOPMENT MEETING TO DISCUSS PATIENT PREFERENCE FOR PATIENTS WITH FA, AS WELL AS FURTHER MEETINGS TO DIG MORE DEEPLY INTO BIOMARKERS AND ENDPOINTS.SEPTEMBER 2016 BIOMARKER MEETINGFARA'S 2016 BIOMARKER MEETING WAS HELD IN TAMPA, FLORIDA, IN CONJUNCTION WITH A PATIENT SYMPOSIUM AND FUNDRAISING EVENT. IT WAS ATTENDED BY CLOSE TO 100 PEOPLE, REPRESENTING INDUSTRY AND ACADEMIA FROM AROUND THE WORLD. UPDATES WERE PROVIDED BY BOTH FARA-FUNDED AND NON-FARA-FUNDED RESEARCHERS, COVERING NEUROLOGICAL BIOMARKERS AND ENDPOINTS, FRATAXIN EXPRESSION, EXERCISE RELATED OUTCOMES AND CARDIAC AND METABOLIC OUTCOMES. WITHIN EACH CATEGORY, SPECIFIC BIOMARKERS AND OUTCOME MEASURES WERE IDENTIFIED AS PROMISING FOR SPECIFIC PURPOSES BY THOSE ATTENDING, AND FURTHER WORK WAS RECOMMENDED. WHERE POTENTIAL BIOMARKERS WERE NOT SUPPORTED BY DATA, THESE WERE DEPRIORITIZED, WHILE ADDITIONAL STUDIES WERE RECOMMENDED FOR THOSE BIOMARKERS/ENDPOINTS THAT HELD THE MOST PROMISE. 197035 EDUCATION, AWARENESS & OUTREACH PROGRAMS: FRIEDREICH'S ATAXIA (FA) IS A RARE DISEASE; AFFECTING 1 IN 50,000 INDIVIDUALS. FARA IS DEDICATED TO 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. FARA ALSO HOSTED WEBINARS TO INFORM THE COMMUNITY ABOUT THE LATEST DEVELOPMENTS IN FA RESEARCH AND SOME OF THE RESULTS OF FUNDED GRANTS.FARA CO-ORGANIZED FOUR PATIENT SYMPOSIUMS WITH CLINICAL RESEARCH NETWORK SITES, UCLA (JANUARY 21ST, 2016, LOS ANGELES, CA), CHILDREN'S HOSPITAL OF PHILADELPHIA (OCTOBER 17TH, 2016, KING OF PRUSSIA, PA), EMORY UNIVERSITY (MAY 14TH 2016, ALPHARETTA, GA) AND UNIVERSITY OF SOUTH FLORIDA (SEPTEMBER 15TH 2016, TAMPA FL). THESE SYMPOSIUMS PROVIDE AN OPPORTUNITY TO EDUCATE THE PATIENT/FAMILY COMMUNITY ON RESEARCH ADVANCES, PROGRESS ON CLINICAL TRIALS AND ARE A UNIQUE FORUM FOR PATIENTS AND RESEARCHERS TO ENGAGE AND LEARN FROM EACH OTHER'S EXPERIENCES AND PERSPECTIVES. COMBINED THESE SYMPOSIA ACCOMMODATED MORE THAN 450 ATTENDEES.THE FARA AMBASSADOR PROGRAM WHICH WAS LAUNCHED IN 2011 WITH >20 PARTICIPANTS HAD A YEAR OF CONTINUED GROWTH AND ACTIVITY IN 2016. THE PROGRAM NOW INCLUDES 44 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.IN 2016, FARA FACILITATED FORMAL TRAINING FOR THE AMBASSADOR LEADERSHIP TEAM AND AMBASSADORS. THE FOCUS FOR THE TRAINING WAS ON THE PATIENT VOICE IN THE RESEARCH PROCESS. THE AMBASSADOR BLOG FEATURED POSTS SUCH AS COMMUNITY EVENT SUMMARIES, MEET THE COMMUNITY INTERVIEWS WITH PEOPLE LIVING WITH FA, AND COMMUNITY MEMBER SPOTLIGHTS. IN 2016, THEY ACHIEVED >70 POSTS WITH ALMOST 15,000 VIEWS. THE AMBASSADORS ALSO CONTINUED A CARD PROGRAM IN WHICH THEY DESIGNED CARDS TO SEND TO THE VARIOUS STAKEHOLDERS AND COMMUNITY MEMBERS THROUGHOUT THE YEAR TO SAY THANK YOU OR TO OFFER ENCOURAGEMENT. THEY ARE AVERAGING ABOUT 20 CARDS PER MONTH. ANOTHER PROJECT FACILITATED BY THE AMBASSADOR GROUP ARE MONTHLY PEER GOOGLE HANGOUT GROUPS FOR THE GREATER FA COMMUNITY TO ATTEND AND CONNECT WITH ONE ANOTHER ONLINE. FINALLY, THE AMBASSADORS HAVE CONTINUED IMPORTANT OUTREACH IN VISITING ACADEMIC LABORATORIES AND BIOPHARMACEUTICAL COMPANIES TO PROVIDE THE PATIENT PERSPECTIVE OF FA, AND SHARING THEIR PERSONAL EXPERIENCES AT FA SYMPOSIA. 431781 382000 CCRN AND PATIENT REGISTRY: IN ADDITION TO RESEARCH GRANTS FARA FUNDS THE ONGOING DEVELOPMENT 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: PATIENT REGISTRY : THE ONLY INTERNATIONAL FRIEDREICH ATAXIA PATIENT REGISTRY WITH MORE THAN 3000 INDIVIDUALS ENROLLED. THIS REGISTRY CAPTURES DEMOGRAPHIC AND CLINICAL INFORMATION ON INDIVIDUALS WITH FA AND IS USED TO RECRUIT INDIVIDUALS FOR CLINICAL TRIALS WORLDWIDE. IN 2016, THE PATIENT REGISTRY WAS USED TO RECRUIT FOR 5 CLINICAL TRIALS AND SEVERAL OTHER CLINICAL RESEARCH STUDIES. FA PATIENT REGISTRY : WWW.CUREFA.NET/REGISTRYCOLLABORATIVE CLINICAL RESEARCH NETWORK IN FA (CCRN IN FA): AN INTERNATIONAL NETWORK OF 10 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, VISIT WWW.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 ELEVEN YEARS OF NATURAL HISTORY DATA (ONGOING) IN MORE THAN 900 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.FARA CONTRIBUTED MORE THAN $400,000 IN 2016 TO CLINICAL RESEARCH INFRASTRUCTURE IN DIRECT FUNDING TO THE CCRN IN FA CENTERS AND RELATED CLINICAL RESEARCH ACTIVITIES.SELECTED CCRN IN FA PUBLICATIONSPROGRESSION OF FRIEDREICH ATAXIA: QUANTITATIVE CHARACTERIZATION OVER 5 YEARS. PATEL M, ISAACS CJ, SEYER L, BRIGATTI K, GELBARD S, STRAWSER C, FOERSTER D, SHINNICK J, SCHADT K, YIU EM, DELATYCKI MB, PERLMAN S, WILMOT GR, ZESIEWICZ T, MATHEWS K, GOMEZ CM, YOON G, SUBRAMONY SH, BROCHT A, FARMER J, LYNCH DR. ANN CLIN TRANSL NEUROL. 2016 JUL 25;3(9):684-94. DOI: 10.1002/ACN3.332. ECOLLECTION 2016.COMORBID MEDICAL CONDITIONS IN FRIEDREICH ATAXIA: ASSOCIATION WITH INFLAMMATORY BOWEL DISEASE AND GROWTH HORMONE DEFICIENCY. SHINNICK JE, SCHADT K, STRAWSER C, WILCOX N, PERLMAN SL, WILMOT GR, GOMEZ CM, MATHEWS KD, YOON G, ZESIEWICZ T, HOYLE C, SUBRAMONY SH, YIU EM, DELATYCKI MB, BROCHT AF, FARMER JM, LYNCH DR. J CHILD NEUROL. 2016 AUG;31(9):1161-5. DOI: 10.1177/0883073816643408. EPUB 2016 APR 12. EFFECTS OF GENETIC SEVERITY ON GLUCOSE HOMEOSTASIS IN FRIEDREICH ATAXIA. ISAACS CJ, BRIGATTI KW, KUCHERUK O, RATCLIFFE S, SCIASCIA T, MCCORMACK SE, WILLI SM, LYNCH DR. MUSCLE NERVE. 2016 NOV;54(5):887-894. DOI: 10.1002/MUS.25136. 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X 9 268107 MARKET PRICE 0 0 0 FORM 990, PART III, LINE 4A 2016 KEITH MICHAEL ANDRUS MEMORIAL AWARDS (FOR CARDIAC RESEARCH) TITLE: INVESTIGATION OF CARDIAC PATHOPHYSIOLOGICAL MECHANISM AND RELEVANT BIOMARKER IN THE CONTEXT OF FXN DEFICIENCY AND FXN OVEREXPRESSION INDUCED TOXICITY. INVESTIGATOR: DR. HELENE PUCCIO (IGBMC, UNIVERSITY OF STRASBOURG, FRANCE) DR. PUCCIO AND DR. BRAHIM BELBELLAA, A POSTDOCTORAL FELLOW IN HER GROUP, ARE INVESTIGATING THE POTENTIAL ADVERSE EFFECTS OF OVEREXPRESSION OF CARDIAC FRATAXIN, GENERATING A NEW CARDIAC-SPECIFIC CONDITIONAL KNOCKOUT MOUSE MODEL, AND IDENTIFYING POTENTIAL BIOMARKERS OF CARDIAC FRATAXIN DEFICIENCY. THESE PRE-CLINICAL STUDIES ARE CRITICAL FOLLOW-UP STEPS TO DR. PUCCIO'S SUCCESSFUL CORRECTION OF FA CARDIOMYOPATHY USING GENE THERAPY IN A MOUSE MODEL AND THEY MUST BE DONE BEFORE A FA CARDIAC GENE THERAPY CLINICAL TRIAL CAN BEGIN. TITLE: IMPACT OF FRATAXIN DEFICIENCY ON CARDIAC SUBSTRATE METABOLISM INVESTIGATOR: DR. ERIN SEIFFERT (THOMAS JEFFERSON UNIVERSITY) DR. SEIFFERT WILL INVESTIGATE THE HYPOTHESIS THAT FRATAXIN DEFICIENCY IS ASSOCIATED WITH DISTURBANCES IN MITOCHONDRIAL ATP PRODUCTION AND SUBSTRATE METABOLISM IN THE HEART, AND THAT THESE DISTURBANCE CAUSE OR WORSEN HEART FUNCTION. PROTEINS THAT MEDIATE HEART METABOLISM ARE CURRENTLY BEING TARGETED FOR TREATING CARDIOMYOPATHY OF VARIOUS ORIGINS, WITH THE GOAL OF PREVENTING THE PROGRESSION TO HEART FAILURE. UNDERSTANDING HOW FXN DEFICIENCY ALTERS CARDIAC METABOLISM WOULD TELL US IF THESE DRUGS COULD BE USEFUL FOR FA PATIENTS. MOREOVER, METABOLIC DISTURBANCES IN SKELETAL MUSCLE WOULD PROVIDE A RATIONALE FOR TESTING FOR ALTERED METABOLITE PROFILES IN THE PLASMA THAT COULD SIGNAL THE WORSENING OF CARDIAC FUNCTION. 2016 KYLE BRYANT TRANSLATIONAL RESEARCH AWARD TITLE: A HUMAN IPSC-BASED CARDIAC MODEL OF FRIEDREICH'S ATAXIA FOR DRUG DISCOVERY AND PATIENT STRATIFICATION USING ALL-OPTICAL ELECTROPHYSIOLOGY. INVESTIGATORS: DR. JONATHAN CHERRY (RANA THERAPEUTICS) AND DR. GRAHAM DEMPSEY (Q-STATE BIOSCIENCES). A COLLABORATIVE STUDY BETWEEN RANA THERAPEUTICS AND Q-STATE BIOSCIENCES TO DEVELOP A NOVEL, HUMAN "DISEASE-IN-A-DISH' MODEL TO INVESTIGATE CARDIAC DYSFUNCTION IN FA. USING STEM CELL BIOLOGY, SKIN OR BLOOD FROM A FA PATIENT CAN BE REPROGRAMMED TO STEM CELLS, WHICH CAN THEN BE DIFFERENTIATED INTO PATIENT-SPECIFIC CARDIAC CELLS OR CARDIOMYOCYTES (CMS). THE FUNCTIONAL PROPERTIES OF THE DERIVED CMS CAN THEN BE STUDIED WITH Q-STATE'S PLATFORM TECHNOLOGY CALLED OPTOPATCH, WHERE SPECIFIC OPTOGENETIC PROTEINS CAN BE EXPRESSED IN CMS TO ALLOW FOR LIGHT-DRIVEN STIMULATION AND RECORDING OF ELECTRICAL ACTIVITY IN THOSE CELLS. THESE TYPES OF LIGHT-BASED ASSAYS CAN BE SCALED TO HIGH-THROUGHPUT CHARACTERIZATION OF DRUGS FOR DISCOVERY OF CANDIDATE TREATMENTS. OUR HYPOTHESIS IS THAT STEM CELL DERIVED CMS FROM FA PATIENTS WILL EXHIBIT A MEASURABLE ELECTROPHYSIOLOGICAL PHENOTYPE USING OPTOPATCH. THE PROPOSED RESEARCH WILL DEVELOP AND VALIDATE THE OPTOPATCH ASSAY ON PATIENT-DERIVED CMS PREPARED BY RANA SCIENTISTS. SUCCESSFUL COMPLETION OF THESE STUDIES WILL ESTABLISH THE REQUISITE TECHNOLOGY TO (1) EVALUATE THE EFFECTS OF THERAPEUTICS DEVELOPED BY RANA AND (2) STUDY THE PHENOTYPE ACROSS A BROAD COHORT OF FA PATIENTS. BROADLY, THIS WILL OPEN THE OPPORTUNITY FOR PATIENT STRATIFICATION FOR CLINICAL TRIALS AND SCREENING OF THERAPEUTICS TO TREAT THIS DEVASTATING DISEASE. 2016 GENERAL GRANT HIGHLIGHTS TITLE: DEVELOPMENT OF OLIGONUCLEOTIDE ACTIVATORS OF FXN EXPRESSION INVESTIGATOR: DR. DAVID COREY (UT SOUTHWESTERN) IN EARLY 2016, DR. COREY'S LABORATORY REPORTED THE DISCOVERY OF OLIGONUCLEOTIDES (SHORT MAN-MADE PIECES OF DNA OR RNA) THAT CAN ACTIVATE EXPRESSION OF FRATAXIN. IN THIS PROJECT, DR. COREY WILL TEST HIS COMPOUNDS IN A WIDER VARIETY OF PATIENT-DERIVED CELLS TO DETERMINE IF HIS FINDINGS CAN BE APPLIED WIDELY THROUGHOUT THE FRIEDREICH'S ATAXIA PATIENT POPULATION. HE WILL ALSO TEST MANY MORE COMPOUNDS TO IDENTIFY THE BEST ONES TO TAKE FORWARD AND TO PROVIDE INSIGHTS INTO HOW TO DESIGN THE NEXT GENERATION OF COMPOUNDS WITH IMPROVED PROPERTIES. AT THE END OF ONE YEAR HIS GOAL IS TO PROVIDE THE COMMUNITY WITH THE INFORMATION NEEDED TO CRITICALLY EVALUATE THE POTENTIAL OF OLIGONUCLEOTIDE-DIRECTED ACTIVATION OF FRATAXIN. TITLE: EVALUATING NOVEL CAPSIDS ENGINEERED FOR EFFICIENT NERVOUS SYSTEM TRANSDUCTION AS FRATAXIN GENE DELIVERY VEHICLES INVESTIGATOR: DR. BEN DEVERMAN (CALIFORNIA INSTITUTE OF TECHNOLOGY) DR. DEVERMAN WAS CO-FUNDED WITH FARA AUSTRALASIA AND FARA NZ. HIS RESEARCH IS FOCUSED ON DEVELOPING NOVEL VIRAL VECTORS FOR DELIVERY OF FRATAXIN TO THE NERVOUS SYSTEM AND OTHER SITES AFFECTED IN FRIEDREICH'S ATAXIA INCLUDING CARDIAC MUSCLE AND THE PANCREAS. RECENTLY, VOYAGER THERAPEUTICS ENTERED INTO A LICENSING AGREEMENT WITH DR. DEVERMAN TO ADVANCE HIS VECTOR TECHNOLOGY. TITLES AND SUMMARIES OF MOST OF THE PROJECTS PRESENTLY FUNDED BY FARA ARE AVAILABLE AT: WWW.CUREFA.NET/RPMP/PUBLIC/PGGRANTLIST.ASPX AND COMPLETE LISTINGS OF GRANTS AWARDED BY YEAR CAN BE ACCESSED AT: WWW.CUREFA.NET/GRANTS-AWARDED.HTML RESULTS REPORTED FROM FARA AWARDED GRANTS - IN 2016, THERE WERE >20 MEDICAL AND SCIENTIFIC PUBLICATIONS THAT WERE DETAILED REPORTS OF FARA FUNDED RESEARCH. SELECTED PUBLICATIONS LOSS OF FRATAXIN ACTIVATES THE IRON/SPHINGOLIPID/PDK1/MEF2 PATHWAY IN MAMMALS. CHEN K, HO TS, LIN G, TAN KL, RASBAND MN, BELLEN HJ. ELIFE. 2016 NOV 30;5. PII: E20732. DOI: 10.7554/ELIFE.20732. ALLEVIATING GAA REPEAT INDUCED TRANSCRIPTIONAL SILENCING OF THE FRIEDREICH'S ATAXIA GENE DURING SOMATIC CELL REPROGRAMMING. POLAK U, LI Y, BUTLER JS, NAPIERALA M. STEM CELLS DEV. 2016 DEC 1;25(23):1788-1800. EPUB 2016 OCT 17. THE SIGNIFICANCE OF INTERCALATED DISCS IN THE PATHOGENESIS OF FRIEDREICH CARDIOMYOPATHY. KOEPPEN AH, BECKER AB, FEUSTEL PJ, GELMAN BB, MAZURKIEWICZ JE. J NEUROL SCI. 2016 AUG 15;367:171-6. DOI: 10.1016/J.JNS.2016.06.006. EPUB 2016 JUN 4. USING HUMAN PLURIPOTENT STEM CELLS TO STUDY FRIEDREICH ATAXIA CARDIOMYOPATHY. CROMBIE DE, PERA MF, DELATYCKI MB, P BAY A. INT J CARDIOL. 2016 JUN 1;212:37-43. DOI: 10.1016/J.IJCARD.2016.03.040. ACTIVATING FRATAXIN EXPRESSION BY REPEAT-TARGETED NUCLEIC ACIDS. LI L, MATSUI M, COREY DR. NAT COMMUN. 2016 FEB 4;7:10606. DOI: 10.1038/NCOMMS10606. FORM 990, PART VI, SECTION A, LINE 4 THE POSITION OF VICE-CHAIR WAS REMOVED AND REFERENCE TO THE DEVELOPMENT ADVISORY BOARD WAS REMOVED AS THESE WERE NOT FOUND TO BE ESSENTIAL. FORM 990, PART VI, SECTION B, LINE 11B COPIES OF 990 ARE DISTRIBUTED TO BOARD MEMBERS FOR REVIEW AND APPROVAL PRIOR TO FILING. FORM 990, PART VI, SECTION B, LINE 12C ALL NEW AND EXISTING BOARD MEMBERS REQUIRED TO ANNUALLY COMPLETE A CONFLICT OF INTEREST STATEMENT FORM 990, PART VI, SECTION B, LINE 15 EVALUATION AND COMPENSATION COMMITTEE PERFORMS EMPLOYEE EVALUATIONS AND DETERMINES SALARY INCREASES ON A YEARLY BASIS FOR ALL EMPLOYEES. COMMITTEE EXAMINES BENCHMARK DATA IN DETERMINING SALARIES FOR PRESIDENT AND EXECUTIVE DIRECTOR. FORM 990, PART VI, SECTION C, LINE 18 FORM 990 IS AVAILABLE ON THE ORGANIZATION'S WEBSITE AS WELL AS GUIDESTAR.ORG AND CHARITYNAVIGATOR.ORG FORM 990, PART VI, SECTION C, LINE 19 FINANCIAL STATEMENTS ARE AVAILABLE ON THE ORGANIZATION'S WEBSITE. THE GOVERNING DOCUMENTS, CONFLICT OF INTEREST POLICY AND FORM 1023 ARE AVAILABLE UPON REQUEST. FORM 990, PART VI LINE 17 THE ORGANIZATION IS ALSO REGISTERED TO SOLICIT CONTRIBUTIONS IN THE STATES LISTED. FORM 990, PART XII, LINE 2C FARA'S AUDIT COMMITTEE CONSISTS OF THE FINANCE COMMITTEE, EXECUTIVE DIRECTOR AND ONE AT-LARGE BOARD MEMBER. EACH YEAR THE AUDIT COMMITTEE SEEKS THE SERVICES OF AN OUTSIDE ACCOUNTING FIRM AND CONTRACTS FOR A FULL AUDIT, PREPARATION OF FINANCIAL STATEMENTS AND FILING OF THE 990. THE AUDIT COMMITTEE IS RESPONSIBLE FOR REVIEWING RECOMMENDATIONS FROM THE AUDIT AND PROPOSING NEW POLICIES AND PROCEDURES AS NECESSARY. THE AUDIT COMMITTEE ALSO PARTICIPATES IN DETAILED REVIEW OF FINANCIAL STATEMENTS AND 990 PRIOR TO SHARING WITH THE FULL BOARD FOR A VOTE. FARA'S BOARD OF DIRECTORS RECEIVES THE FINANCIAL STATEMENTS AND 990 FOR REVIEW AND VOTES TO APPROVE PRIOR TO PUBLIC FILING.