When University of Virginia graduate student Caeley Reever came across the word “stellular” – “little star” in Latin – she and UVA anesthesiology professor Manoj Patel knew they had the perfect name for their startup company.
Stellula Therapeutics is centered around developing a gene therapy for a rare pediatric genetic epilepsy disorder, SCN8A developmental and epileptic encephalopathy.
Patel says he and Reever hope to develop gene-editing treatments for rare genetic disorders and eventually help patients with a range of inherited diseases. (Photo by Amanda Maglione)
“The name reflects the inspiration behind the company and the children living with this disorder,” Patel said. “To us, every child affected by this disease is a little star – unique, resilient and deserving of the opportunity for a healthier future.
“The name serves as a reminder of the patients and families who motivate our work each day and our commitment to developing therapies that could transform their lives.”
Patel shared more about the company’s origins, its mission and the potential impact of its work.
Q. What was the impetus for starting your company?
A. Over the years, I have had the opportunity to meet children and families affected by SCN8A-DEE. The disease is devastating and life-altering, and tragically, many affected children do not survive into adulthood. These experiences became the driving force behind the creation of Stellula Therapeutics: to develop a potentially transformative treatment that addresses the root genetic cause of disease and, ultimately, could cure affected children.
Because SCN8A-DEE is a rare disorder, with an estimated incidence of approximately 1 in 52,000 individuals, there has historically been limited interest from the pharmaceutical industry in developing therapies for this patient population. Stellula Therapeutics was founded to help fill this unmet need by advancing precision gene-editing therapies for SCN8A-DEE and other severe rare genetic epilepsies.
Q. Why is gene therapy a good solution?
A. Because SCN8A-DEE is caused by a defined single-gene mutation, it is a strong candidate for precision gene therapy. Base editing offers a strategy to directly and permanently correct the disease-causing DNA change. In this approach, specific molecules are used to find the location of the incorrect gene mutation and restore the normal sequence. Unlike conventional treatments that primarily suppress seizures, base editing targets the underlying genetic cause of disease.
If successful, this approach could provide a one-time, disease-modifying or potentially curative therapy for patients with SCN8A-DEE. More broadly, it may serve as a model for treating other severe monogenic epilepsies and genetic disorders caused by single-nucleotide, disease-causing variants.
Patel, left, and Reever conduct research aimed at treating rare genetic disorders by correcting disease-causing DNA changes. (Photo by Amanda Maglione)
Q. Can you take us through the scientific breakthrough that led to the disclosure of your intellectual property to the UVA Licensing & Ventures Group?
A. Using a mouse model, we demonstrated that treatment with a base editor effectively eliminated seizures and significantly improved survival compared to untreated mice. Importantly, the molecules we designed have successfully directed the base editing machinery specifically to the disease-causing base change, enabling precise correction of the mutation without detectable editing at other sites. This method also limits potential side effects underlying the disease.
These findings provided strong proof-of-concept that our guide RNAs and base editing approach can precisely target and correct the underlying genetic cause of SCN8A-DEE, highlighting the potential of this strategy as a transformative therapy for severe genetic epilepsies.
Q. What are the company’s short- and long-term goals?
A. Our short-term goal is to complete a few additional studies and finalize partnerships that will enable the next stage of our platform’s development. Following this, we intend to raise the capital necessary to conduct the preclinical toxicology and safety studies required prior to initiating a first-in-human clinical trial.
