For children living with FRRS1L disease («Frizzle»), there are currently no approved treatments capable of slowing or stopping this devastating, ultra-rare neurological disorder. Families face the heartbreaking reality of watching their children by the age of two experience rapid regression, global loss of function, and relentless and uncontrolled epilepsy all while knowing there are no current therapeutic options available.
Refusing to accept that reality, two families affected by FRRS1L disease came together to create Finding Hope for FRRS1L, a parent-led nonprofit organization dedicated to developing life changing treatments for children living with the disease. What began as a small group of determined parents has grown into an international collaboration of scientists, clinicians, biotechnology partners, regulatory experts, and supporters working together to advance a promising gene therapy toward clinical trials.
Today, Finding Hope for FRRS1L is proud to announce a new collaboration with QUATRE LAB, a specialized Contract Research Organization (CRO) focused on Advanced Therapy Medicinal Products (ATMPs). This partnership brings additional world-class scientific and analytical expertise to the organization’s gene therapy program and represents another important milestone as the program advances toward first-in-human clinical evaluation.
As part of this collaboration, QUATRE LAB will provide specialized expertise in Advanced Therapy Medicinal Products (ATMPs), analytical development, potency assay development, translational research, and quality and regulatory strategy. Specifically, QUATRE LAB will lead the development and analytical qualification of critical methods needed to characterize the gene therapy product and generate the robust analytical data required to support future clinical development. Together, Finding Hope for FRRS1L and QUATRE LAB are helping build the scientific foundation necessary to move this promising gene therapy one step closer to the children and families who urgently need it.
«At QUATRE LAB, we are privileged to work with some of the most innovative organizations in advanced therapies. Parent-led initiatives like Finding Hope for FRRS1L are among the most
inspiring because they remind us why science matters,» said Patricia Muñoz, CEO and Founder of QUATRE LAB. «We are honored to contribute our expertise to a program that represents years of extraordinary determination by families, researchers, clinicians, and partners working toward one common goal: helping bring a promising gene therapy closer to the children and families who urgently need it.»
«Our mission has always been clear: to get lifesaving treatment to children living with FRRS1L. We know we cannot do that alone,» said Chrissy Green, Co-Founder and President of Finding Hope for FRRS1L. «Collaborating with partners who share our sense of urgency and bring specialized scientific expertise to our program helps us move one step closer to making treatment a reality for our children.»
By combining the determination of families with specialized scientific expertise, this collaboration represents another important step toward advancing a promising gene therapy and bringing new hope to children and families affected by FRRS1L disease.
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 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 (however 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 Frizzle (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 FRRS1L 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 across multiple countries, including Afghanistan, Croatia, Germany, India, Iran, Italy, the Middle East, the Netherlands, Puerto Rico, South Korea, Turkey and the United States. 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.
Contact Information & Source of News Release: Chrissy Green, Co-Founder and Co-President, contact@FRRS1L.or
About QUATRE LAB
QUATRE LAB is a specialized Contract Research Organization (CRO) supporting the development of Advanced Therapy Medicinal Products (ATMPs), including gene and cell therapies. Through scientific, analytical, quality, regulatory, and project management expertise, QUATRE works with innovators across the advanced therapies field to help translate promising research into potential treatment options for patients with rare and severe diseases. The company has particular expertise in the development, qualification, and validation of potency assays and other critical analytical methods required to support the characterization, development, and regulatory advancement of advanced therapies. Through collaborations with biotech companies, academic institutions, and patient organizations, QUATRE contributes to accelerating the translation of promising scientific discoveries into future treatments.
For more information, visit www.quatrelab.com
