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Parents fund custom gene therapy for daughter with ultra-rare mutation
Nadine and David Lipworth have assembled researchers in Australia and the United States to develop an antisense oligonucleotide treatment for their nine-year-old daughter Sasha, who has a spontaneous SLC6A1 mutation. The therapy is in final laboratory testing, with a possible first dose targeted for March if toxicology studies are funded.
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Nadine and David Lipworth quit their jobs to provide 24-hour care for their daughter Sasha and to finance development of a gene therapy aimed at her ultra-rare disorder. The nine-year-old lost speech, motor skills and continence after a spontaneous mutation in the SLC6A1 gene was identified in March 2024.
University of Sydney researchers found the single-letter DNA change disrupts normal mRNA splicing, producing a defective GAT-1 protein that recycles the brain’s main inhibitory neurotransmitter. Only one other person worldwide is known to carry the same variant.
Laboratory testing At Queensland University of Technology, Dr Laura Croft has grown brain organoids from Sasha’s reprogrammed stem cells for 140 days to test about 20 candidate antisense oligonucleotides. The Lipworths describe the short synthetic RNA strands as precision “masking tape” that covers the faulty splice site.
The team plans to send the best-performing candidate to the United States for required toxicology studies. If those studies and subsequent manufacturing are completed, Sasha could receive an initial dose by her tenth birthday in March.
Funding requirement The family is seeking $1 million in philanthropic donations to cover toxicology testing and medicine production. Nadine Lipworth has organized a GoFundMe campaign, raffles and tax-deductible gifts through the Epilepsy Foundation.
Professor Emerita Sue Fletcher of the University of Sydney’s RNA for Rare Diseases team said the approach could apply to other splicing mutations, which account for an estimated 15 to 30 percent of genetic diseases. The Lipworths said they hope the work will create a regulatory and manufacturing pathway for similar individualized therapies.
