CADASIL ASSOCIATION

CADASIL IS AN HEREDITARY SMALL VESSEL DISEASE CAUSED BY MUTATIONS IN THE NOTCH3 GENE. THESE MUTATIONS LEAD TO PROGRESSIVE CHANGES IN THE SMALL BRAIN ARTERIES AND REDUCED BLOOD FLOW TO THE BRAIN. WE AIM TO SHARE THESE CADASIL VESSEL-ON-CHIP WITH THE INTERNATIONAL CADASIL RESEARCH COMMUNITY TO PROMOTE CADASIL RESEARCH. WE AIM TO UNITE PATIENTS AND THE MEDICAL COMMUNITY TOWARD THE COMMON GOAL OF TREATMENTS AND ULTIMATELY A CURE FOR THIS RARE GENETIC DISEASE, BY PROMOTING COMMUNICATION, ADVOCACY, RESEARCH, AND EDUCATION. FOR THE YEAR ENDED DECEMBER 31, 2025 THE FOLLOWING CARE PROGRAMS AND ACTIVITIES WERE OPERATED: COMMUNICATION -SCIENTIFIC ADVISORY BOARD (SAB) BECAME FULLY OPERATIONAL AND MEMBERS WERE SELECTED TO REVIEW MDBR GRANT APPLICATIONS -HELD THE THIRD ANNUAL 2025 PATIENT-INVESTIGATOR MEETING THAT BROUGHT PATIENTS, FAMILY MEMBERS, AND CAREGIVERS TOGETHER WITH INVESTIGATORS IN AN IN-PERSON MEETING -PROVIDED ON-GOING PATIENT AND FAMILY SUPPORT BY ANSWERING QUESTIONS SENT TO US ONLINE AND AT MEETINGS AND CONNECTING PATIENTS TO PHYSICIANS WHO TREAT PATIENTS WITH CADASIL ADVOCACY -PROVIDED LETTERS OF SUPPORT FOR STUDIES IN CADASIL RESEARCH -CONTINUED ON-BOARDING OF THE "CADASIL COMMUNITY NATURAL HISTORY STUDY" WITH THE NATIONAL ORGANIZATION OF RARE DISORDERS (NORD) -ADVISING CLINICAL INVESTIGATORS AND SUPPORTING THE RECRUITMENT OF PARTICIPANTS FOR 3 OBSERVATIONAL STUDIES BEING CONDUCTED IN THE UNITED STATES: - THE CADASIL CONSORTIUM NATIONAL INSTITUTES OF HEALTH (NIH) STUDY - THE NATIONAL HEART LUNG AND BLOOD INSTITUTE/NIH CADASIL STUDY - THE CZI-SPONSORED CADASIL STUDY AT MT. SINAI MEDICAL CENTER -HOSTING A MONTHLY MEETING OF KEY INVESTIGATORS TO ENCOURAGE THEIR COLLABORATION AND RESEARCH IN THE CADASIL DISEASE MODELING GROUP EDUCATIONAL -CONDUCTED WEBINARS FOR PATIENTS AND INVESTIGATORS -PRODUCED QUARTERLY NEWSLETTERS TO INFORM THE CADASIL COMMUNITY -MAINTAINING AND IMPROVING AN EDUCATIONAL WEBSITE (WWW.CURECADASIL.ORG) -PROMOTING AN EDUCATIONAL BROCHURE FOR PATIENTS AND FAMILIES ON CADASIL OTHER FUNDRAISING ACTIVITY -COORDINATED & MANAGED THE MILLION DOLLAR BIKE RIDE FUNDRAISING TO PROVIDE RESEARCH DONATIONS SPONSORED BY THE UNIVERSITY OF PENNSYLVANIA ORPHAN DISEASE CENTER. ALL PROCEEDS WENT TO FUND A GRANT FOR RESEARCH IN CADASIL. -REPRESENTED CURECADASIL/PARTICIPATED IN THE CZI SCIENCE IN SOCIETY, NORD AND NEURODEGENERATION CHALLENGE NETWORK CONFERENCES.