— Finding Hope for FRRS1L plans to initiate clinical trial using TfR1 CapX gene therapy in the second half of 2026, pending regulatory review —
FORT COLLINS, Colo. and NEW YORK, Feb. 18, 2026 /PRNewswire/ -- Finding Hope for Frizzle (FRRS1L), a parent-led nonprofit organization working to develop a lifesaving treatment for FRRS1L patients, and Apertura Gene Therapy, a biotechnology company developing next-generation AAV capsids for delivering genetic medicines, today announced a license agreement to support Finding Hope for Frizzle's goal to initiate a gene therapy clinical trial in the second half of this year, pending regulatory review. Finding Hope for Frizzle will license TfR1 CapX, Apertura's novel AAV capsid that targets the central nervous system (CNS).
Visit https://www.frrs1l.org/ for a video about the announcement and a recorded webinar that provides more information about this relationship and the gene therapy.
FRRS1L disease, also known as early infantile epileptic encephalopathy type 37, is a rare, recessive genetic disease resulting from loss of function mutations in the FRRS1L gene. The FRRS1L gene encodes a protein that is required for assembly of the α-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid (AMPA) subtype of glutamate receptors in the brain. In the absence of FRRS1L, patients experience early onset epilepsy, hyperkinetic movements, and developmental delay, followed by severe and rapid regression and loss of motor function by the age of two years old. FRRS1L patients become trapped in a body that they can no longer move and require constant care. Currently, there is no treatment that can control FRRS1L epilepsy or stop severe developmental regression.
"Although FRRS1L is a horrible and devastating disease robbing children of all motor ability by age two, we believe FRRS1L is a great candidate for treatment with gene therapy using Apertura's TfR1 CapX technology," said Chrissy Green, Co-Founder and President of Finding Hope for Frizzle (FRRS1L). "FRRS1L mouse models have shown promising results when given AAV gene therapy in unpublished preclinical studies, which motivates us to work to advance this treatment as soon as possible with the goal of saving the lives of current and future patients. We believe our efforts will help move gene therapy forward for the treatment of neurological and rare diseases."
Apertura's TfR1 CapX is an intravenously delivered adeno-associated virus (AAV) capsid that has been engineered to bind to human transferrin receptor 1 (hTfR1), with the goal of enabling efficient delivery of genetic medicines across the blood-brain barrier (BBB) and into the CNS. hTfR1 is an attractive transport target for therapeutics intended for the CNS because expression of hTfR1 is high throughout the BBB and consistent throughout life as well as across neurological diseases.
TfR1 CapX is a second-generation capsid based on research published in the journal Science by Apertura's academic founder, Ben Deverman, Ph.D., Senior Director of Vector Engineering and Institute Scientist at the Broad Institute, and his colleagues. In preclinical studies, TfR1 CapX has shown strong CNS selectivity and robust transduction across multiple brain regions in transgenic mice that have been engineered to express hTfR1. As the FRRS1L protein is understood to support the building of AMPA receptors in the brain, the possibility of recovery for FRRS1L patients could be enhanced through increased distribution of the FRRS1L gene throughout the brain.
"We are proud to collaborate with Finding Hope for Frizzle and to support patient-led therapeutic development," said Diego Garzón, Ph.D., Chief Business Officer at Apertura. "We believe TfR1 CapX has the potential to enable efficient CNS gene delivery across a broad range of neurological disorders and remain committed to partnering to advance programs where this approach can make a meaningful impact. Relationships like this one don't just matter for a single condition; they have the potential to help advance the broader CNS field by creating momentum and findings that others can build on."
As Green says, "We know our children are struggling to communicate, experience their world, and fight for their lives. Treatment has the possibility to restore function to the AMPA receptor and give them their lives back."
About FRRS1L Genetic Disease
FRRS1L (Ferric Chelate Reductase 1 Like), pronounced "Frizzle", is a gene which encodes a protein essential for intracellular assembly and transport of AMPA receptors to the synaptic membrane. AMPA receptors are ionotropic glutamate receptors of excitatory neurons that play a role in synaptic plasticity, learning and memory. Loss of function mutations in the FRRS1L gene due to biallelic pathogenic variants cause disruption of synaptic AMPA receptor function and consequently weakened AMPA-mediated currents. This loss of function mutation has been implicated in a devastating neurological condition characterized by choreoathetosis, cognitive deficits and early infantile epileptic encephalopathy (EIEE-37).
FRRS1L disorder is a rare neurodevelopmental disease, which was first characterized in 2016, (Madeo et al., 2016). Currently there are 100+ known patients worldwide, but this number is continually growing with increased whole-genome sequence testing. The gene is now included in the screening for infantile epilepsy and dyskinesia (Genetic Testing Registry test ID GTR000551789.3). Clinically, children with FRRS1L disorder experience an onset of seizures from approximately 6 to 24 months of age. Global developmental delays, along with hyperkinetic involuntary movements, are observed early on, with most going on to experience severe developmental regression within the first to second year of life. Seizure control is poor, with epilepsy remaining highly refractory to antiepileptic medications. Due to loss of function and abilities, FRRS1L disorder patients require 24/7 care, support, and monitoring. They experience respiratory failure, scoliosis, hip dysplasia, and other conditions due to regression. They require support from medical devices such as feeding tubes, suctioning, respiratory clearance, and ventilation. Some FRRS1L children, post regression, have learned to communicate through an eye-gaze communication device. Eye gaze communication has shown in those patients cognitive understanding, awareness, and learning.
About Finding Hope for Frizzle (FRRS1L)
Founded in 2021 by a group of parents of children with the FRRS1L gene disorder, Finding Hope for FRRS1L is a registered 501(c)(3) nonprofit organization based in Colorado. The organization's mission is to build a global community of hope for children and families affected by FRRS1L—connecting, supporting, and empowering them through shared resources and collaboration. Finding Hope for Frizzle is dedicated to funding research and the development of gene replacement therapies that have shown promising results in restoring normal function in FRRS1L mouse models. The foundation also works to raise awareness and promote understanding of the disorder among the public, medical professionals, and researchers worldwide. FRRS1L has been identified in countries across the world. There are currently more than 100 known cases globally — a number that continues to grow as access to whole-genome sequencing expands and awareness increases. Learn more at www.FRRS1L.org.
About Apertura Gene Therapy
Apertura Gene Therapy develops genetic medicines and next-generation AAV capsids that engage human-relevant receptors, aiming to enable more effective and selective gene delivery. The company's lead capsid, TfR1 CapX, leverages human transferrin receptor 1 to enable intravenous delivery to the brain and spinal cord. This established transport mechanism has a strong clinical track record in pediatric and geriatric populations, expanding its potential to treat serious neurological and genetic diseases. Apertura has licensed its next-generation capsids to multiple partners, with programs expected to enter clinical trials this year and next year. Founded in 2021 on technology from the Broad Institute and supported by Deerfield Management Company, Apertura Gene Therapy is headquartered in New York City. Learn more at www.aperturagtx.com and follow us on LinkedIn.
Contact
For Finding Hope for FRRS1L
Chrissy Green
Co-Founder and President
[email protected]
For Apertura Gene Therapy
[email protected]
SOURCE Apertura Gene Therapy
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