Skip to content

Spark Therapeutics Inc., (NASDAQ:ONCE) announces free genetic testing and counselling services for patients with inherited retinal degenerations.

Spark Therapeutics (NASDAQ:ONCE), a gene therapy company based in Philadelphia, USA, has announced a new initiative to provide free genetic testing for eligible patients to obtain genetic information and counselling in respect of their progressive retinal disorders. The initiative, launched by Spark at this year’s AAO meeting in Chicago, has been welcomed by Foundation Fighting Blindness, a patient advocacy and research support organisation, and by clinicians in the US. The initiative will benefit both patients and the company as it seeks to establish cohorts of suitable patients to test the company’s pipeline of experimental gene therapy treatments.


In August of this year Spark had reported that a clinical study on patients with retinal degeneration caused by RPE-65 mutations had delivered positive results in respect of visual function and full-field sensitivity testing. An adeno-associated viral vector carrying engineered versions of the RPE-65 gene therapy, referenced as “voretigene neparvovec”, is in advance clinical studies in a crossover trial of 29 patients. Initial results, reported in October 2015, showed clinically significant improvement in the intervention group (20 subjects) compared to the control group (9 subjects) on the primary endpoint, change in bilateral mobility testing between baseline and 1 year. Two secondary endpoints (full-field light sensitivity threshold testing for white light and mobility testing for the assigned first eye) additionally indicated a statistically significant improvement however, visual acuity did not meet statistical significance. In a subsequent crossover of the groups, eight of the nine subjects in the original control group that crossed to the treatment arm showed improved mobility testing with eight responders demonstrating an ability to navigate an obstacle course at 1 lux. Spark reported that the mean improvement among all nine subjects in the crossover portion of the study was 2.1 lux levels, compared to the 1.9 lux level improvement seen in the original group of 20 subjects. On full-field light sensitivity threshold testing, eight of the nine subjects were reported to be improved, recording an average improvement of nearly 200-fold, compared to an approximate 100-fold improvement average seen in the original 20 study subjects.


In terms of the new genetic screening initiative, Spark has said that the company will coordinate the roll out of the service with two independent companies, PreventionGenetics and InformedDNA. PreventionGenetics is a CLIA certified service and an ISO 15189 accredited laboratory with “one of the largest, most comprehensive DNA test menus of any lab in the United States”. The genetic tests will be conducted using either blood or saliva samples collected using a standard testing kit to be provided to participating clinicians. A second company, InformedDNA, is described by Spark as “the nation’s largest independent provider network of genetics specialists” and will complement the testing data with qualified genetic counseling services for patients, caregivers and health care professionals. Commenting on the new service, Steve Rose, Chief Research Officer at Foundation for Fighting Blindness stated, “This free screening initiative offered by Spark Therapeutics gives eligible patients and their physicians easy access to laboratory testing for more than 30 disease-causing genes. While deciding to be tested is always a personal decision between patients and their physicians, this type of information can identify the underlying genetic cause of a person’s retinal disease and help them understand how the disease may affect their vision over their lifetime. In addition, this initiative will provide more data on the prevalence of certain gene mutations, which could help guide further research.”