Delivers a Codon-Optimized Nucleotide Sequence Using a Viral Vector to Improve Patient Outcomes
This genetic therapy administers to Cockayne Syndrome patients an optimized base pair sequence encoding critically absent proteins, increasing survival rates and delaying the onset of neurological degeneration. Cockayne Syndrome is a rare, fatal disease that results in neurodegeneration and premature aging throughout the body. Mutations in DNA repair genes cause the syndrome that often prevents survival past early adolescence. Available Cockayne Syndrome treatment is limited to supportive or palliative care, and disease-altering therapies do not presently exist.
Researchers at the University of Florida have created a codon-optimized genetic therapy that improves Cockayne Syndrome patient outcomes. An adeno-associated virus delivers a nucleotide sequence that replaces mutated DNA excision repair genes, thereby slowing, halting, or reversing Cockayne Syndrome symptom progression.
Application
Viral vector genetic therapy that replaces mutated genes to treat Cockayne Syndrome
Advantages
- Targets the genetic mutations that cause Cockayne Syndrome, delivering the first-ever disease-altering treatment
- Improves strength, mobility, and coordination and delays kyphosis, tremors, and neurodegeneration, greatly enhancing long-term quality of life
- Administers encoded DNA repair proteins to patients, treating two forms of excision repair cross-complementing gene mutations
Technology
An adeno-associated virus delivers a nucleotide sequence encoding an XPG protein, a Cockayne Syndrome A (CSA) protein, or a Cockayne Syndrome B (CSB) protein to a subject. These proteins are either absent, damaged, or scarce in Cockayne Syndrome patients due to excision repair cross-complementing or XPG gene mutations. The viral vector and its contents integrate into a localized region of the host genome without altering cell growth or morphology. Once the optimized gene sequence is in place, it produces critical therapeutic proteins for an extended period and treats chronic diseases caused by their absence, such as Cockayne Syndrome.
Brochure
