2024-07-15T10:40:54-04:00 2023-12-31 474306215 Mullins PC 7625 Wisconsin Avenue Bethesda MD 20814 990 2023-01-01 844985747 CACNA1A Foundation CACN 31 Point Road Norwalk CT 06854 Sunitha Malepati Vice President 2039696552 2024-07-02 true Sunitha Malepati XXX-XX-XXXX true John Mullins P01429307 2027706371 2024-07-15 2 00 AAL2 IAL1 2023 2023-04-26 12:10:37Z Sunitha Malepati 385860 false X www.cacna1a.org X 2020 CT To find specific treatment options and a cure for CACNA1A patients. (See Schedule O for full mission) 7 7 0 10 0 0 343299 385860 0 0 0 343299 385860 53237 174996 0 0 0 48429 350168 278707 403405 453703 -60106 -67843 876537 863328 123561 178195 752976 685133 X To find specific treatment options and a cure for CACNA1A patients. (See Schedule O for full mission) false false 237717 174996 We were selected to partner with the Orphan Disease Center and the University of Pennsylvania to develop the first-ever disease concept model study for CACNA1A-related disorders. We also awarded three new research grants this year exemplifying our commitment to advancing scientific breakthroughs for the CACNA1A community. We funded: (i) Samuel Young Jr., PhD for Development of novel gene therapy strategies to treat CACNA1A-related disorders; (ii) Henry Colecraft, PhD for Fixing Cav2.1 functional expression to treat CACNA1A disorders and (iii) Bart van de Warrenburg, MD, PhD for Development of an in vitro compound screening assay utilizing an electrophysiological fingerprint in induced pluripotent stem cell-derived neurons carrying a CACNA1A gain-of-function variant. We also formed new working groups in our Research Network to drive progress in natural history study/biomarker development, preclinical-to-clinical research; and variant classification. 82244 The CACNA1A Foundation hosted its second Research Roundtable: Collaborating to Accelerate the Path to CACNA1A Clinical Trials on October 9-10th at the New York Academy of Medicine in New York City. There were over 55 attendees, including 48 researchers, clinicians, trainees, and representatives from industry and the NIH. The overarching purpose was to exchange ideas and build collaborations among the CACNA1A Research Network to develop CACNA1A-specific treatments and push them into clinical trials for FDA approval. The meeting was divided into four sessions, each focused on one of the following goals: (i) Develop strategies for identifying biomarkers and endpoints for CACNA1A-related disorders;Continued on Sch O. 65626 Our team attended over a dozen rare disease or healthcare professional conferences, facilitating meaningful collaborations and fostering connections with experts, researchers, and other patient advocates. These meetings are crucial platforms for raising awareness about CACNA1A-related disorders, allowing us to share insights, breakthroughs, and challenges with a broader audience. Some of the events we attended included meetings hosted by the AmericanEpilepsy Society, American Academy of Pediatric Ophthalmologists, National Ataxia Foundation, Rare Drug Development Symposium, St. Jude Pediatric Translational Neuroscience Initiative, National Organization of Rare Diseases, and the American Academy of Pediatrics. 385587 true true false false false false false false false false false false false false false false false false false false true true false false false false false true false false false false false false false false false false false false false false false false false false false true 9 0 true 0 false false false false false false false false false false false false X 7 7 false false false false false false false true true false false true true true true true true false false false AK AL AR CA CO CT FL HI KS KY MD ME MI MN MS NJ NM NV NY OH OK OR RI SC UT VA WA WI WV X X X The Organization 2039696552 31 Point Road Norwalk CT 06854 X Allison Buchner Director 5.00 0.00 X 0 0 0 Hala Mirza Director 2.00 0.00 X 0 0 0 Deborah Ondrasik MD Director 5.00 0.00 X 0 0 0 Sarah Greathouse Director 5.00 0.00 X 0 0 0 Lisa Manaster President 40.00 0.00 X X 0 0 0 Sunitha Malepati Vice President & Treasurer 40.00 0.00 X X 0 0 0 Amy Junge Secretary 10.00 0.00 X X 0 0 0 0 0 0 0 false false false 385860 385860 385860 0 0 0 X 124996 124996 50000 50000 315 315 7200 7200 144370 105085 39285 7607 7222 235 150 9183 289 4254 4640 11012 1167 5491 4354 5765 5765 89349 89349 2192 2192 Other 1714 1714 453703 385587 19687 48429 654290 842640 222247 20688 876537 863328 123561 25695 152500 123561 178195 X 365516 512627 387460 172506 752976 685133 876537 863328 -67843 0 X true X false true false X 192925 484663 343299 385860 1406747 192925 484663 343299 385860 1406747 40010 1366737 1406747 X RESTRICTED RESTRICTED RESTRICTED RESTRICTED RESTRICTED RESTRICTED RESTRICTED RESTRICTED true Europe including Iceland and Greenland Grant making Research 50000 50000 50000 Europe including Iceland and Greenland Research 50000 Bank Wire 1 false false false false false false true Columbia University Board of Truste 622 West 113th Street New York NY 10025 135598093 501c3 75000 Research University of Iowa 169 Newton Rd Iowa City IA 52242 426004813 501c3 50000 Research 2 Monitoring procedures (Part I, line 2) We require that the principal investigator submit to the CACNA1A Foundation mid-year and final written reports regarding the project and the use of the grant proceeds in accordance with The Foundations policy statement on research support. Form 990 governing body review Part VI line 11 The form 990 is submitted in draft form to The Board of Directors for review and the form 990 is approved by the vice president and treasurer prior to submission. Conflict of interest policy compliance Part VI line 12c The Foundation has a conflict-of-interest policy which is consistently reviewed, monitored, and enforced on an annual basis. Governing documents etc available to public Part VI line 19 These documents are available upon request. List of other fees for services expenses Part IX line 11g Communications: $53,400Science: $60,400Community: $535Fundraising: $30,035 Part III response or note to any other line in Part III (ii) Develop a more comprehensive framework for classifying CACNA1A variants; (iii) Explore new approaches to understand and target the pathophysiology (disease mechanisms) of CACNA1A-related disorders; and (iv) Identify the components needed to build a robust proof-of-concept package to attract industry partnerships. General explanation attachment Mission Statement:To find specific treatment options and a cure for CACNA1A patients by building a collaborative network of patients, families, clinicians and scientists that will work together to raise awareness and accelerate the understanding, diagnosis and treatment of CACNA1A-linked diseases.