FAMILIES OF SPINAL MUSCULAR ATROPHY DBA CURE SMA

INDIVIDUALS WITH SMA NEED SPECIALIZED CARE AND EQUIPMENT, WHICH CAN PUT ENORMOUS LOGISTICAL AND FINANCIAL PRESSURE ON FAMILIES. CURE SMA IS COMMITTED TO MAKING SURE THAT FAMILIES HAVE THE BEST, MOST ACCURATE INFORMATION ABOUT SMA AND WHAT IT MEANS FOR THEM, AND TO MAKING SURE THAT THEY UNDERSTAND ALL THE OPTIONS AND RESOURCES AVAILABLE TO THEM FROM DAY-TO-DAY CARE TO THE CHANGING LANDSCAPE OF RESEARCH BREAKTHROUGHS AND TREATMENTS. THIS INCLUDES OUR CARE SERIES BOOKLETS, WHICH ARE SENT OUT AS PART OF INFORMATIONAL PACKETS AVAILABLE AT NO COST TO ANYONE WHO REQUESTS ONE. DEVELOPED BY MEDICAL EXPERTS AND REVIEWED BY FAMILIES, THESE BOOKLETS COVER TOPICS SUCH AS BREATHING, NUTRITION, PALLIATIVE CARE, GENETICS, MUSCULOSKELETAL ISSUES, AND MORE. IN ADDITION, OUR EQUIPMENT POOL GIVES FAMILIES ACCESS TO SPECIALIZED ITEMS LIKE CAR BEDS, STROLLERS AND BATHING SYSTEMS AT NO COST. EVERY NEWLY-DIAGNOSED FAMILY RECEIVES A CARE PACKAGE FROM CURE SMA, FULL OF TOYS APPROPRIATE TO THE CHILD'S TYPE OF THE DISEASE, IMPARTIAL INFORMATION FOR PARENTS, AND USEFUL ITEMS SUGGESTED BY OTHER SMA PARENTS BASED ON THEIR OWN EXPERIENCES. EVERY NEW ADULT TO THE COMMUNITY RECEIVES A PACKAGES OF SPECIAL INDEPENDENCE RELATED ITEMS.CURE SMA ALSO EDUCATES THE PUBLIC ABOUT SMA, TO STRENGTHEN THE SUPPORT AVAILABLE TO FAMILIES. THIS INCLUDES DIRECTIONS, A BIANNUAL FAMILY SUPPORT NEWSLETTER, AND COMPASS, A QUARTERLY UPDATE ON RESEARCH DEVELOPMENTS

CURE SMA FOCUSES ON THREE DIFFERENT YET EQUALLY CRITICAL AND INTERDEPENDENT RESEARCH AREAS: BASIC RESEARCH, TO UNDERSTAND THE CAUSE AND BIOLOGY OF SMA; DRUG DISCOVERY, TO CONVERT BASIC RESEARCH IDEAS INTO PRACTICAL NEW DRUG CANDIDATES; AND CLINICAL & REGULATORY RESEARCH, TO PROVIDE THE INFRASTRUCTURE TO TEST THE DRUG CANDIDATES. DURING THIS PERIOD CURE SMA FUNDED SIX NEW AND SIX ONGOING BASIC RESEARCH GRANTS. WE ALSO FUNDED AND EXECUTED MULTIPLE CLINICAL AND REGULATORY FOCUSED PROJECTS, TO INCREASE SMA CLINICAL TRIAL SITE CAPACITY AND READINESS, TO PROVIDE REGULATORY AUTHORITIES WITH DATA ON THE SMA POPULATION AND THEIR REPORTED UNMET NEEDS, TO IDENTIFY POTENTIAL BIOMARKERS FOR SMA, AND TO COLLECT DATA TO UNDERSTAND THE PATIENT EXPERIENCE WITH SMA. CURRENTLY, THERE ARE THREE APPROVED DRUGS FOR SMA, WITH ANOTHER SEVERAL DOZEN DRUG PROGRAMS IN DEVELOPMENT, INCLUDING EIGHT IN CLINICAL TRIALS. CURE SMA SUPPORTED CLINICAL CARE DATA COLLECTION TO BETTER UNDERSTAND SMA CARE. THE CURE SMA CARE CENTER NETWORK KICKED OFF IN 2018. THE GOAL OF THE SMA CARE CENTER NETWORK IS TO GATHER AND THEN DISSEMINATE NEW KNOWLEDGE TO ADVANCE THE SMA STANDARD OF CARE FOR PEDIATRIC AND ADULT PERSONS. IN 2024, CURE SMA PROVIDED FUNDING TO 29 CARE CENTERS. THESE CENTERS PROVIDED PATIENT CONSENTED ELECTRONIC MEDICAL RECORD DATA AND ELECTRONIC CASE REPORT FORMS TO THE CURE SMA CLINICAL DATA REGISTRY. DUE TO INCREASING COSTS AND INEFFICIENCIES IN DATA COLLECTION THROUGH THE ELECTRONIC MEDICAL RECORD, CURE SMA CLOSED THE CLINICAL DATA REGISTRY EFFECTIVE JUNE 2024. CURE SMA ALSO COLLECTS DATA DIRECTLY FROM THE SMA COMMUNITY OF PATIENTS AND CAREGIVERS THROUGH THE ANNUAL COMMUNITY UPDATE SURVEY TO BETTER UNDERSTAND THE SMA JOURNEY. THE ABOVE DATA SOURCES ARE COMBINED AND ANALYZED ANNUALLY TO IDENTIFY TRENDS IN DEMOGRAPHICS, DIAGNOSIS, SMA TREATMENTS, UNMET NEEDS, PATIENT CARE AND OUTCOMES. THE MOST RECENT ANALYZES WERE PUBLISHED IN THE STATE OF SMA 2023 REPORT AVAILABLE ON OUR WEBSITE. AS OF JANUARY 2024, SMA NEWBORN SCREENING HAS BEEN IMPLEMENTED ACROSS IN ALL U.S. STATES AND WASHINGTON, D.C. CURE SMA PUBLISHED "NEWBORN SCREENING AND BIRTH PREVALENCE FOR SPINAL MUSCULAR ATROPHY IN THE US" IN JAMA PEDIATRICS IN JULY 2024 TO PROVIDE UPDATED INFORMATION BASED ON SMA NEWBORN SCREENING RESULTS FROM STATE PUBLIC HEALTH LABORATORIES. IN ADDITION, CURE SMA PUBLISHED "SPINAL MUSCULAR ATROPHY UPDATE IN BEST PRACTICES: RECOMMENDATIONS FOR DIAGNOSIS CONSIDERATIONS" IN NEUROLOGY CLINICAL PRACTICE IN MAY 2024. THESE PUBLICATIONS CONTRIBUTE TO THE GROWING LITERATURE ON SMA CLINICAL CARE. RESOURCES WERE ALSO DEVOTED TO MAINTAINING WEBSITE LISTINGS OF CARE CENTERS, SMA NEWBORN SCREENING REFERRAL CENTERS AND TREATMENT CENTERS THAT PROVIDE FDA-APPROVED SMA TREATMENTS.