Bcm Families Foundation

TO PROVIDE FINANCIAL SUPPORT FOR RESEARCH, PROJECTS, ACTIVITIES AND ORGANIZATIONS RELATED TO THE DIAGNOSIS, TREATMENT OR CURE OF BLUE CONE MONOCHROMACY (BCM). ALSO TO ESTABLISH NETWORKS AND SYNERGIES WITH OTHER GROUPS AND ORGANIZATIONS DEDICATED TO EYE AND/OR OTHER RARE DISEASE ISSUES AND TO EDUCATE THE GENERAL PUBLIC REGARDING BCM.

IN 2023 THE BCMFF WORKED IN AGREEMENT WITH THE STRATEGIC PLAN, IN MULTIPLE DIRECTIONS-- CURE FOR BCM: AFTER OUR BIOTECH PARTNER DECIDED TO STOP THE DEVELOPMENT OF THE BCM GENE THERAPY IN 2022, THEN IN 2023 WE DECIDED TO CONTINUE DEVELOPMENTS BY FINANCING SOME IMPORTANT PARTS BY OURSELVES. IN THE MEANTIME, THE DIRECTOR JOHN CAVITT RESIGNED WITH THE AIM OF IMPLEMENTING A FUNDRAISING PROGRAM FOR THE TREATMENT, FOUNDING THE BLUEGEN THERAPY FOUNDATION, WITH WHICH WE STARTED A CONSTRUCTIVE DIALOGUE. ONE OF THE MOST IMPORTANT PROJECTS FOR THE BCMFF IN 2023 WAS TO FINANCE THE UNIVERSITY OF PENNSYLVANIA, WHERE DOCTORS ARTUR CIDECIYAN AND TOMAS ALEMAN WORKED IN 2023 AND UNTIL JUNE 2024 ON THE CLINICAL PROTOCOL AND OUTCOME MEASURES OF THE GENE THERAPY. THE INITIAL PROJECT COST WAS $148,759 OF WHICH $99,172 PAID IN 2023. IN 2024 UNIVERSITY OF PENNSYLVANIA REQUESTED $35,000 MORE TO END THE PROJECT AND TO COORDINATE WITH THE EUROPEAN CLINICAL CENTER OF TUBINGEN. BCMFF AGREED. IN 2023 THE BCMFF FINANCED ALSO THE STUDY OF DR. WENTAO DENG AT THE WEST VIRGINIA UNIVERSITY TO TEST SOME INTRAVITREAL VECTORS RECEIVED FROM THE UNIVERSITY OF CALIFORNIA BERKELEY. THE COST OF THE WVU PROJECT IS $130,888; IN 2023 WE PAID $100,000. MOREOVER, WE PAID $2,000 TO UCB TO HAVE EXCLUSIVE RIGHT TO EVALUATE FOR 1 YEAR AN INTRAVITREAL VECTORS WE RECEIVED. THERE ARE SOME LEGAL EXPENSES RELATED TO CLOSE AND DISCUSS AGREEMENTS OF ALL THESE PROJECTS. DIAGNOSIS THE BCMFF STARTED A COLLABORATION WITH THE INSTITUTE OF MOLECULAR AND CLINICAL OPHTHALMOLOGY BASEL (IOB), BASEL, SWITZERLAND. WE FINANCED THE OPSIN MINER PROJECT OF DR. MATHIEU QUINODOZ FOR $8,784. THIS PROJECT CAN IMPROVE DNA TESTS AND CAN BE IMPLEMENTED IN LABS THAT PERFORM NEXT GENERATION SEQUENCING DNA TESTS. PATIENT PREPARATION FOR CLINICAL TRIAL: WE MAINTAINED AND DEVELOPED THE BCM PATIENT REGISTRY, A STRATEGIC PROJECT FOR THE CLINICAL TRIAL. WE PAID FOR ANNUAL COST FOR HOSTING (AWS); SOFTWARE MAINTENANCE DIGITAL VIDEO; REGISTRY MANAGER SARA CAMMAROTA; LEGAL FEES TO THE DATA PROTECTION OFFICER CMS; ANNUAL ETHICS REVIEW FROM WIRB. AN INCREASED NUMBER OF PATIENTS, FAMILIES AND CLINICIANS PARTICIPATING IN THE REGISTRY HAS BEEN EXPERIENCED IN 2023. COMMUNITY BUILDING: A EUROPEAN FAMILIES MEETING WAS HELD ON SEPTEMBER 19, 2023 IN TUBINGEN, HOSTED BY THE UNIVERSITY OF TUBINGEN AND BY THE GERMANY ACHROMATOPSIA ASSOCIATION. A NATIONAL FAMILIES MEETING WAS HELD IN CHARLOTTE, NC, ON APRIL 29, 2023. THERE ARE COSTS RELATED TO THESE MEETINGS, MAINLY FOR THE CHARLOTTE MEETING, INCLUDING SERVICES FOR THE CHILDREN ROOM, HOTEL ROOM SCHOLARSHIPS, PRINTED MATERIALS, HOTEL ROOMS AND TRAVEL REIMBURSEMENT FOR SCIENTISTS AND HOTEL SERVICES FOR THE CONFERENCE, PARTIALLY PAID IN ADVANCE IN 2022. BCMFF REPUTATION: WE MAINTAINED CONNECTIONS WITH OTHER PATIENT ORGANIZATIONS AND UMBRELLA ORGANIZATIONS, SUCH AS NORD, EURORDIS, ORPHANET, FASTERCURES, FOUNDATION FIGHTING BLINDNESS, BERKELEY FORUM FOR COLLABORATIVE RESEARCH , ITALIAN ACHROMATS ASSOCIATION. DIRECTORS PARTICIPATED IN THE FLORETINA CONFERENCE AND IN SEVERAL ROUNDTABLES AND WEBINARS OF THE BERKELEY FORUM. FUNDRAISING: THANKS ONLY TO THE WORK OF VOLUNTEERS, WITH NO EXPENSES, WE ORGANIZED THE GIVINGTUESDAY CAMPAIGN AND THE THE MONTHLY DONORS CAMPAIGN.