Our Scientific Platform and Programs

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.

Cutting-edge vector

State-of-the-art, in-house expertise in vector manufacturing

Innovative scientific and regulatory strategies

Strong commitment to improve patient care

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Our Clinical Pipeline

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.

SPK-8011: Hemophilia A
Phase 3
Fidanacogene elaparvovec (SPK-9001): Hemophilia B
Phase 3
SPK-3006: Pompe Disease
Phase 1/2

Our Research


Stargardt Disease
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.

Liver-Directed Therapies

Spark Therapeutics is researching liver-directed therapies to address a range of diseases like lysosomal storage disorders such as Fabry disease.

Neurodegenerative Diseases (Central Nervous System Delivery)

Huntington’s 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.

Other areas of interest

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.