New Cockayne Syndrome Gene Therapy Project at UMass Chan Medical School
The CSA gene replacement therapy project has officially launched!
October is officially Cockayne Syndrome Awareness Month in the State of New York, and we have exciting news!
Today, UMass Chan Medical School and Riaan Research Initiative, a 501(c)(3) non-profit organization, announced entering into a historic agreement to fund, research, and develop a gene replacement therapy to combat Cockayne syndrome, a fatal autosomal, recessive disorder. Cockayne syndrome, first identified in 1936, and impacting a few hundred children around the world, is primarily caused by mutations in genes CSA and CSB, which are responsible for the body’s DNA repair and transcription process. Children with Cockayne syndrome experience a form of premature aging, severe neurodegeneration, growth failures, microcephaly, vision and hearing impairments, hypotonia, developmental delays, and an extremely shortened lifespan.
The research will be led by Ana Rita Batista, PhD, instructor in neurology and Miguel Sena-Esteves, PhD, associate professor of neurology, utilizing a CSA/XPA (“CX”) mice model which exhibits the severe phenotype seen in Cockayne syndrome patients. The UMass Chan research team aims to design, study, identify, and produce a lead adeno-associated viral vector candidate, following efficacy and safety studies in the CX mice, to treat mutations in gene CSA. Riaan Research Initiative, the first research organization to accelerate the development of treatments for Cockayne syndrome, will fully fund the medical school’s pre-clinical CSA gene replacement therapy work, which will include the hiring of two post-doctoral research fellows.
“This work is an urgent labor of love, and was inspired by our beautiful 21 monthold son, Riaan, who has been diagnosed with the most severe form of Cockayne syndrome. Not long after Riaan was diagnosed, we were fortunate to be connected to Terence R. Flotte, MD, the Celia and Isaac Haidak Professor of Medical Education, executive deputy chancellor, provost and dean of the T. H. Chan School of Medicine, whose lab had begun the foundational research into treating this disease utilizing gene therapy. We hope to carry this work to the finish line and are honored to partner with the exceptional team of gene therapy scientists at the medical school. We are also grateful to Cockayne syndrome experts from around the world, and members of our Scientific Advisory Board who have provided valuable input to give us our best shot at developing a therapy,” said Jo Kaur, Founder of Riaan Research Initiative.
“Developing gene therapy treatments for Cockayne syndrome and diseases with a small number of patients is challenging in a commercial setting. However, there are numerous examples, including our own, where the partnership of parents with an unbendable determination to help their children with researchers in the gene therapy field have resulted in clinical trials for diseases in this category,” said Miguel Sena-Esteves. “The partnership of the Medical School’s gene therapy team with the Riaan Research Initiative will lead to a first-in-human AAV gene therapy clinical trial for Cockayne syndrome as fast as humanly possible. Children like Riaan inspire us to work harder every day to overcome and persist through the challenges in research to give them a chance at a better life.”
"In such a short amount of time, Riaan Research Initiative and UMass have successfully collaborated to launch a comprehensive research program that will hopefully generate the first gene replacement therapy treatments for Cockayne Syndrome. Today gives new hope to our patient and caregivers' community, many of whom have been battling this horrible disease for years without treatments in sight. Hopefully this will be the first of many similar research efforts across the scientific community," said Mark Pelson, advisory member of Riaan Research Initiative, and dad of Sarah, who has Cockayne syndrome.
Thank you so much to all of our donors! Please continue supporting this effort and help us reach our goal of raising four million dollars. Make a fully tax-deductible donation today at riaanresearch.org/donate. Riaan Research Initiative is now officially a 501(c)(3) non-profit organization!