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Spark Therapeutics has built a leading integrated gene therapy platform as we strive to turn genes into medicines for patients with inherited diseases, including inherited retinal diseases (IRDs), liver-directed diseases including hemophilia, lysosomal storage disorders such as Pompe and Fabry, and neurodegenerative diseases. Learn more about our platform below.
We are advancing research programs against cell targets in the retina, liver, and central nervous system using adeno-associated viral (AAV) vectors. Our viral vectors are designed to encapsulate genetic material for the potential treatment of genetic diseases. The vectors used in our research programs have been engineered using Spark’s cutting-edge proprietary platform, selected through vigorous preclinical testing and validated in several clinical trials.
State-of-the-art, in-house expertise in vector manufacturing
With adeno-associated viral (AAV) vector manufacturing capabilities in-house, investigational clinical-grade vectors developed and manufactured by our team have been delivered through six routes of administration to hundreds of patients in more than a dozen clinical trials.
Innovative scientific and regulatory strategies
We work in a spirit of collaboration with investigators and regulators to develop rigorous and novel endpoints that measure the potential impact of our investigational, potentially one-time therapies on targeted diseases and to help shape high standards for future gene therapies. At the forefront of gene therapy research for more than two decades, members of our scientific team are responsible for numerous development milestones, including the first clinical trials of adeno-associated viral (AAV) vectors in skeletal muscle tissue and the liver; the first clinical studies to evaluate AAV administration to the second eye; and the first gene therapy trial for a non-lethal disorder that included pediatric participants.
Strong commitment to improve patient care
We are committed to developing an approach to patient access tailored to the unique nature of an investigational, potentially one-time, life-altering gene therapy. We are providing education and other resources to promote a shift from clinical to genetic-based disease classification, and advocating for patient access to care and incentives for innovation.
Spark Therapeutics is working to address a range of debilitating genetic diseases. Each of our investigational programs currently uses an adeno-associated viral (AAV) vector developed and manufactured by the Spark team, and in some cases, together with collaborators.
Spark Therapeutics is investigating a potential gene therapy for Stargardt disease, the most common form of inherited juvenile macular degeneration, which is caused by a mutation in ABCA4 gene. The prevalence of Stargardt is estimated at 30,000 in the U.S., with about 500 new cases per year.
Spark Therapeutics is researching liver-directed therapies to address a range of diseases like lysosomal storage disorders such as Fabry disease.
Spark Therapeutics is developing an investigational gene therapy for the treatment of Huntington’s disease, a fatal genetic disorder that causes the progressive breakdown of nerve cells in the brain. Huntington’s disease is characterized by motor, cognitive and behavioral symptoms which usually appear between the ages of 30 to 50, and worsen over a 10- to 25-year period. Ultimately, the weakened individual succumbs to pneumonia, heart failure or other complications.
Along with our ongoing research across therapeutic areas, we are continuing to conduct research related to the immune system, targeted gene therapy deliveries, and enabling technologies to optimize delivery and potentially expand access for eligible patient populations.
Additionally, we are continuing to build strategic partnerships to help accelerate our progress for patients. If you have an opportunity for collaboration or an interesting technology, or if you have an asset in one of our areas of interest, we would like to hear from you. For inquiries or to submit a proposal, visit our Business Development page.