When Nasha Fitter’s daughter, Amara, was diagnosed with the ultra-rare FOXG1 syndrome at just seven months old, the prognosis was stark: no speech, no independent movement, severe intellectual disability, and lifelong epilepsy. For many families, such a diagnosis marks the beginning of a long wait – for care, for answers, for science to catch up. For Fitter, it was the start of something else entirely. After discovering early academic work suggesting that FOXG1 gene therapy might be feasible, the tech entrepreneur connected with other families and co-founded what would become the FOXG1 Research Foundation (FRF) – a parent-led nonprofit with an ambition that challenges the very foundations of traditional drug development.
FRF set out with a clear mission to develop a gene therapy targeting the root of FOXG1, a rare neurodevelopmental disorder about which little was known back in 2017. To understand the gene’s function in the body, the foundation began building the science from scratch across mouse models, cell lines, and early modality testing. Having seen positive results from gene replacement therapy experiments in mice, FRF took the next step forward. “We began taking that data out of academia and partnered with the CRO Charles River, building a team within our foundation that functions like a true biotech,” Fitter explains.
But what came next revealed a deeper issue. “I assumed that if we de-risked the science, there would be a line of biopharma companies ready to take it forward,” she recalled. “That simply did not happen.” Instead, Fitter encountered a system governed by economics that often deprioritized, delayed, or abandoned ultra-rare disease programs. The traditional model, she realized, was not built for patients like her daughter. Faced with that reality, Fitter and her team decided that “if we wanted a solution for our children in their lifetimes, we had to see it through ourselves.” FRF has since evolved into a fully operational drug developer, building internal capabilities and partnering strategically to translate academic insights into a clinical-stage therapy.
At the center of this effort is FRF-001, an AAV9 gene replacement therapy designed to address the underlying genetic cause of FOXG1 syndrome, thus far financed by the foundation’s own fundraising efforts. The goal is USD 22 million; enough to advance the therapy through clinical trials and toward regulatory approval. Crucially, the approach challenges the cost structure of traditional biotech. “We went back to first principles,” Fitter explains. “What is essential in drug development, and what is not?” The result is a program that aims to reach Biologics License Application submission for a fraction of the conventional cost. If successful, it would not only deliver a therapy for FOXG1 patients but demonstrate a fundamentally new economic model for ultra-rare diseases.
Momentum is already building. In early 2026, the US FDA cleared FRF-001’s Investigational New Drug application, enabling the launch of a first-in-human Phase I/II trial. The therapy has also received Fast Track, Orphan Drug, and Rare Pediatric Disease designations.
Fitter also co-founded Citizen Health – a platform born from a practical need to better manage day to day patient care. “In between doctor visits, families are managing care minute-to-minute, and the current approach for most rare communities is just posting a question on Facebook and hoping for a response,” she laments. Citizen Health addresses this gap by enabling families to aggregate medical records, track symptoms, and contribute structured data.
Citizen Health also aims to generate meaningful and complete patient-derived health data. “Trying to do research through traditional academia is inefficient and expensive. We needed a platform where rare disease patients could collect their medical records and other data to both help families manage daily life and provide a more efficient way to gather clinical data for drug development,” Fitter explains.
For FRF-001, the platform has been instrumental. The natural history dataset informed clinical trial design, endpoint selection, and regulatory submissions. “If you are trying to treat an ultra-rare disease, you have to think about the end goal from day one,” Fitter notes. “A traditional Phase I through III structure means an extra USD 50 million to 60 million, which often makes a program economically unviable.” With a rock-solid natural history baseline, the foundation could successfully make the case for a single-arm trial without a placebo.
Fitter’s journey reflects the broader emergence of a new generation of rare disease patient and parent entrepreneurs. “These are people who refuse to wait,” she says. “They are building teams, driving programs, and often moving faster than traditional pharma.”
Fitter’s ambition extends beyond FOXG1. Her goal is to establish a replicable blueprint for ultra-rare drug development that other foundations, startups, and communities can adopt. “I hope we are setting a new economic paradigm,” she says. “One that proves it is possible to develop therapies for ultra-rare diseases efficiently, without compromising on quality.”
At its core, this vision is about redefining who drives innovation in healthcare. Rather than passive participants, patients and families are becoming architects of their own solutions. For Fitter, that shift is both inevitable and necessary. “Who is more motivated than the parent of a child?” she asks. “You will do more for your child than you will ever do for yourself.”
