Initial data appears to show success for the telomerase gene therapy undergone by the BioViva CEO last year. Similar gene therapies extend life in mice, most likely though increased stem cell activity and thus improved tissue maintenance. It doesn't seem to raise cancer risk in mice, but there is a concern that this may still be an issue in humans, with our quite different telomere and telomerase dynamics. Measuring the length of telomeres as presently accomplished in white blood cells is a proxy metric of dubious value for the endpoint of improved stem cell function, unfortunately, but it is the technique presently available at reasonable cost and reliability. Average telomere length in immune cells is only tenuously related to age, statistically over large populations, and does tend to change over time in both directions in individuals due to changing health and other circumstances. The alteration here is large enough and rapid enough, however, to indicate that the gene therapy worked in the sense of delivering telomerase. Finding out whether it worked in other senses, producing a more youthful tissue environment, would require a biomarker of biological age, such as the DNA methylation measures presently under development.
In September 2015, then 44 year-old CEO of BioViva USA Inc. Elizabeth Parrish received two of her own company's experimental gene therapies: one to protect against loss of muscle mass with age, another to battle stem cell depletion responsible for diverse age-related diseases and infirmities. The treatment was originally intended to demonstrate the safety of the latest generation of the therapies. But if early data is accurate, it is already the world's first successful example of telomere lengthening via gene therapy in a human individual. Gene therapy has been used to lengthen telomeres before in cultured cells and in mice, but never in a human patient. Telomeres are short segments of DNA which cap the ends of every chromosome, acting as 'buffers' against wear and tear. They shorten with every cell division, eventually getting too short to protect the chromosome, causing the cell to malfunction and the body to age.
In September 2015, telomere data taken from Parrish's white blood cells by SpectraCell's specialised clinical testing laboratory in Houston, Texas, immediately before therapies were administered, revealed that Parrish's telomeres were unusually short for her age, leaving her vulnerable to age-associated diseases earlier in life. In March 2016, the same tests were taken again by SpectraCell revealed that her telomeres had lengthened by approximately 20 years, from 6.71kb to 7.33kb. This implies that Parrish's white blood cells (leukocytes) have become biologically younger. These findings were independently verified by the Brussels-based non-profit HEALES (HEalthy Life Extension Company), and the Biogerontology Research Foundation, a UK-based charity committed to combating age-related diseases.
"Current therapeutics offer only marginal benefits for people suffering from diseases of aging. Additionally, lifestyle modification has limited impact for treating these diseases. Advances in biotechnology is the best solution, and if these results are anywhere near accurate, we've made history.". Bioviva will continue to monitor Parrish's blood for months and years to come. Meanwhile, BioViva will be testing new gene therapies and combination gene therapies to restore age related damage. It remains to be seen whether the success in leukocytes can expanded to other tissues and organs, and repeated in future patients. For now all the answers lie in the cells of Elizabeth Parrish, 'patient zero' of restorative gene therapy.