Form 990 for tax year 2023

Totals

Total revenue

$385,860

Total expenses

$453,703

Contributions and grants received

$385,860

Grants paid

$174,996

Program service revenue

$0

Investment income

$0

Other revenue

$0

Total assets, end of year

$863,328

Total liabilities, end of year

$178,195

Net assets or fund balances, end of year

$685,133

Program services expenses (Part IX)

$385,587

Management and general expenses

$19,687

Fundraising expenses

$48,429

Program service expenses (Part III)

$385,587

Program services were 85.0% of total expenses calculated — Part IX's program-services column over total expenses, both as filed.

Line items

Every line the filer filed in Parts VIII, IX and X, as filed and in filed order. Blank columns are left out, and the lines are not forced to add up to the totals above.

Mission and programs · 2023

• 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.

  Expenses $237,717 · Grants $174,996

• 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.

  Expenses $82,244

• 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.

  Expenses $65,626

As filed on the 2023 return. The filer continues this part on Schedule O, which is not shown here.

Listed in Part VII

Compensation is as filed in Part VII: reportable pay from this organization and from related organizations, other compensation, and hours per week. The total, marked calculated, is our sum of the three dollar columns, with a blank column counted as $0; the form itself has no total. On a Form 990-EZ the columns are Part IV's instead, and on a Form 990-PF Part VIII's — compensation, contributions to benefit plans, and expense account — and the total sums those.

Grants on this return

• Columbia University Board of Truste

  $75,000

  Research

• University of Iowa

  $50,000

  Research

Provenance

Return type

form_990

Tax year

2023

Filed

2 July 2024

IRS schema version

2023v5.1

Source object

202421979349300432

Check it against the return as filed: the GivingTuesday Data Lake hosts a public copy of the original XML.

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