Scientists, Funded by Riaan Research Initiative, Successfully Treat Mice with Cockayne Syndrome
Treated mice live longer, improve quality of life
by Riaan Research Initiative
(January 30, 2023) - We are thrilled to announce that our research partners, UMass Chan Medical School, and the lab of Miguel Sena-Esteves, PhD and Rita Batista, PhD have successfully treated mice with Cockayne syndrome. The mice, which lack a CSA gene, exhibit the most severe symptoms of Cockayne syndrome that we see in children diagnosed with the disease, including significantly shortened lifespans, vision and hearing impairments, decreased weight and size, and poor feeding abilities.
The mice were all treated with gene replacement therapy, and received a healthy, functional CSA gene via an adeno-associated viral vector. Following treatment, they showed remarkable progress compared to healthy, typical mice, including but not limited to activity levels, feeding capabilities, and size, as well as a significant increase in lifespan.
Read UMass Chan's Press Release
“This isn't just a home-run, it's a World Series win! We know our journey isn't over, but this is an incredible step forward on our path to get treatments developed to treat children with Cockayne syndrome. We can't thank our donors enough who made it possible for us to fund the pre-clinical research in its entirety, and our research partners at UMass who moved quickly, smartly, and methodically to reach this milestone.”
- Jo Kaur, Founder, Riaan Research Initiative
Formally, the team has reached what is known as the “proof-of-concept” stage in the gene therapy program. It is critical to prove a treatment works in mice in order to get it approved by the U.S. Food and Drug Administration to eventually administer to children.
This progress demonstrates the power of partnerships between family foundations like Riaan Research Initiative and researchers in the development of treatments for ultra-rare diseases long forgotten by traditional drug development pathways.
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"This is the first time scientists have successfully treated mice lacking CSA, which is one of the primary genes that is mutated in children diagnosed with Cockayne syndrome, a progeria-related disease. We now know that it is absolutely possible to treat a disease as severe as CS using gene therapy. This is a monumental step forward. These advancements in CS research would not have occurred, as quickly as they did, without Riaan Research Initiative."
- Mark Pelson, Dad of Sarah, diagnosed with Cockayne syndrome
Help us keep this groundbreaking research going by making a tax-deductible donation to Riaan Research Initiative today. Riaan Research Initiative is the only non-profit organization exclusively committed to advancing treatments for Cockayne syndrome, and all of our funding comes from supporters like you. The next steps in the CSA gene therapy program will be more costly, including toxicity studies to ensure that the treatment is safe, and manufacturing expenses to create a clinical grade gene therapy product suitable for children. With your support, we are excited and hopeful about the future ahead.
"Riaan is not only our organization's inspiration but the impetus behind groundbreaking translational advancements in Cockayne syndrome research. We are so proud of our son who exudes love and light with every breath, and fight on for him, and all of the beautiful children we have gotten to know and love."- Richie Digeorge and Jo Kaur, Riaan's Parents
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