Global Foundation For Peroxisomal Disorders

THE GLOBAL FOUNDATION FOR PEROXISOMAL DISORDERS IS DEDICATED TO IMPROVING THE LIVES OF INDIVIDUALS WITH PEROXISOMAL DISORDERS BY FUNDING RESEARCH, CHAMPIONING SCIENTIFIC COLLABORATION, AND EMPOWERING FAMILIES AND PROFESSIONALS THROUGH EDUCATIONAL PROGRAMS AND SUPPORT SERVICES.

EMPOWERING FAMILIESIN 2023, THE GFPD WAS ONE OF ONLY SEVEN ORGANIZATIONS SELECTED BY THE FDA TO PARTICIPATE IN AN EXTERNALLY LED-PATIENT FOCUSED DRUG DEVELOPMENT (EL-PFDD) MEETING THE FOLLOWING YEAR, WHICH WAS THEN SCHEDULED AS PART OF THE 2024 FAMILY AND SCIENTIFIC CONFERENCE. EL-PFDD MEETINGS ALLOW FDA REPRESENTATIVES TO LISTEN TO PATIENTS AND CAREGIVERS ABOUT THEIR PERSPECTIVES ON MEDICAL CONDITIONS LIKE PEROXISOMAL DISORDERS. THESE MEETINGS HAVE A HEAVY EMPHASIS ON THE SYMPTOMS AND THE DAILY IMPACTS, AND PATIENTS SHARE FIRST-HAND WHAT KIND OF TREATMENTS WOULD MOST IMPROVE THEIR QUALITY OF LIFE. IN PREPARATION FOR THIS INCREDIBLE OPPORTUNITY, THE GFPD PLANNED TO HOST THREE FOCUS GROUPS WITH ITS PATIENTS, CAREGIVERS, AND FAMILIES IN 2023 TO SHAPE OUR DISCUSSION WITH THE FDA IN 2024. WITH LIMITED SEATS AVAILABLE IN EACH SESSION, THE NUMBER OF FAMILIES SEEKING TO ACTIVELY PARTICIPATE IN THESE FOCUS GROUPS RESULTED IN THE ADDITION OF A FOURTH GROUP.

SCIENTIFIC COLLABORATIONTHE GFPD HAS PARTNERED WITH OKLAHOMA STATE UNIVERSITY TO IMPLEMENT A TELEECHO PROGRAM FOCUSED ON PEROXISOMAL DISORDERS AND RARE DISEASES. THIS THREE-YEAR PILOT PROGRAM WILL HELP BRIDGE COMMUNICATIONS BETWEEN PATIENT FAMILIES AND CAREGIVERS WITH SCIENTISTS, RESEARCHERS, AND MEDICAL PROFESSIONALS, AS WELL AS PARAPROFESSIONALS, IN ORDER TO STRENGTHEN NETWORK SUPPORTS AND IMPROVE PATIENT HEALTH OUTCOMES. THE ECHO MODEL CREATES A VIRTUAL COMMUNITY WHERE SPECIALISTS, RESEARCHERS, AND MEDICAL PROFESSIONALS FROM AROUND THE WORLD ENGAGE IN DISCUSSIONS ABOUT SPECIFIC MEDICAL CASES AND OFFER FEEDBACK. EXPERT KNOWLEDGE AND BEST PRACTICES ARE MADE ACCESSIBLE TO COMMUNITY HEALTH CARE PROVIDERS TO INCORPORATE INTO THEIR PRACTICES REGARDLESS OF WHERE THEY ARE LOCATED. THE ECHO MODEL DISSEMINATES EXPERT KNOWLEDGE, EMPOWERING PRACTITIONERS, PATIENTS, AND THEIR FAMILIES THROUGH OPTIMAL HEALTHCARE.

RESEARCH AND MEDICINE:THE GFPD MAINTAINS A STRONG COMMITTEE OF PHYSICIANS AND SCIENTISTS ON OUR MEDICAL AND SCIENTIFIC ADVISORY BOARD. THESE INDIVIDUALS COMPRISE RESEARCHERS, CLINICIANS AND EXPERTS FROM NORTH AMERICA AND EUROPE THAT TREAT AND ASSIST PATIENTS WITH PEROXISOMAL DISORDERS THROUGH CLINICAL MEDICINE AND RESEARCH. THE GFPD HAS AWARDED A NUMBER OF GRANTS FOR FURTHER RESEARCH INCLUDING NATURAL HISTORY STUDY, MOUSE MODEL RESEARCH AND ACCESS TO GENETIC COUNSELING AND INFORMATION. PRIMARY RESEARCH PARTNERS INCLUDE MCGILL UNIVERSITY, BAYLOR COLLEGE OF MEDICINE, UNIVERSITY OF SOUTHERN CALIFORNIA, UNIVERSITY OF AMSTERDAM, THE KENNEDY KRIEGER INSTITUTE AND MONTCLAIR STATE UNIVERSITY. ADDITIONALLY, THE GFPD HAS CLINICAL ADVISORS FROM A NUMBER OF CHILDREN'S HOSPITALS THROUGHOUT NORTH AMERICA. TO FURTHER GFPD AWARENESS AND NETWORKING, REPRESENTATIVES HELD MEETINGS WITH THE NATIONAL ORGANIZATION FOR RARE DISORDERS, THE AMERICAN COLLEGE OF MEDICAL GENETICS, THE NOTRE DAME RARE DISEASE SYMPOSIUM, THE WORLD ORPHAN DRUG CONGRESS, AND THE AMERICAN ASSOCIATION FOR THE STUDY OF LIVER DISEASE

ADVOCACYTHE GFPD HOSTED A LARGE CONTINGENT OF FAMILIES AND REPRESENTATIVES IN WASHINGTON DC FOR RARE DISEASE WEEK, MANY OF WHOM SPOKE ON CAPITOL HILL WITH THEIR RESPECTIVE STATE LEGISLATORS. THROUGHOUT THE YEAR, THE GFPD ALSO HOSTED OVER 30 VIRTUAL MEET-UPS, WEBINARS AND SUPPORT GROUPS FOR PARENTS AND CAREGIVERS. THESE VIRTUAL EVENTS INCREASE HEALTH LITERACY AND RESULT IN BETTER CLINICAL OUTCOMES FOR PATIENTS, LINKAGE TO CARE PROVIDERS ACROSS THE COUNTRY. OUR VIRTUAL EVENTS ALSO PROVIDE NECESSARY EMOTIONAL AND BEHAVIORAL SUPPORTS FOR CAREGIVERS AND ASSIST IN ADVOCACY AND POLICY CHANGE FOR RARE DISEASE PATIENTS.