According to a story from Financial Buzz, the gene therapy company AVROBIO recently presented updated data on February 10th, 2020 at the 16th Annual WORLDSymposium being held in Orlando, FL. These updates pertain to several of the company’s development programs, including findings from the first patient dosed in its clinical trial testing a gene therapy for cystinosis and data indicating long term biomarker responses for a maximum of 32 months in its Fabry disease gene therapy study.
Cystinosis is a type of lysosomal storage disease which is characterized by the abnormal accumulation of the amino acid cystine in the body. Severe cystinosis can cause major symptoms early in life, such as kidney failure, growth and developmental impairments, diabetes, muscle atrophy, reduced skin and hair pigment, blindness, impaired sweating, and inability to swallow. Treatment of cystinosis includes cysteamine, which can impair the growth of crystals in the body; sodium citrate is also used to control blood acidity. To learn more about cystinosis, click here.
About Fabry Disease
Fabry disease is a rare genetic disorder that primarily affects the heart, skin, and kidneys. Symptoms include pain (which can affect the extremities, the entire body, or the digestive tract), kidney dysfunction, abnormalities of the heart valve and heart rhythms, fatigue, inability to sweat, and angiokeratomas (small red dots that appear on the skin). Treatments include enzyme replacement therapy, treatments to address organ specific problems, and Galafold. Galafold is effective in roughly 50 percent of patients, and only works for patients with certain types of mutations. Enzyme replacement therapy can help partially halt or reverse disease progression. To learn more about Fabry disease, click here.
The company reported findings from the first cystinosis patient dosed with its experimental gene therapy AVR-RD-04 in the phase 1/2 trial. The patient had a VCN of 2.0 which evaluates how many copies of the inserted gene have integrated into the cellular genome; this helpful to assess therapeutic durability. In addition, the patient’s granulocyte cystine level had dropped from 7.8 nmol to 1.5 nmol three months after administration.
In its Fabry disease program testing the gene therapy AVR-RD-01, VCN findings for the first patient dosed continues to remain stable after 32 months. Findings for other participants appear to show a consistent trend in seven others that have been treated. In three patients, there are indicators of increased plasma enzyme and leukocyte activity, suggesting that they have begun producing the alpha-galactosidase enzyme on their own. Two others have shown decreasing plasma lyso-Gb3, a well-known biomarker for disease activity in Fabry disease.
These findings suggest that these experimental gene therapies are beginning to work successfully.