Spark Therapeutics and Pfizer Inc announced that the U.S. FDA has granted breakthrough therapy designation to SPK-9001, the lead investigational candidate in the companies’ SPK-FIX program, in development for the treatment of hemophilia B.
SPK-9001, a novel bio-engineered adeno-associated virus (AAV) capsid expressing a codon-optimized, high-activity human factor IX variant, is being investigated in an ongoing Phase 1/2 trial as a potential one-time therapy.
Breakthrough therapy designation is intended to expedite the development and FDA review of drugs to treat a serious or life-threatening disease or condition. The designation requires preliminary clinical evidence that the investigational therapy may offer substantial improvement over existing therapies on at least one clinically significant endpoint.
In addition to SPK-9001, Spark Therapeutics previously received breakthrough therapy designation for voretigene neparvovec, which is being developed for the potential treatment of inherited retinal disease (IRD) caused by mutations in the RPE65 gene.
“We are extremely pleased to have been granted breakthrough therapy designation for SPK-9001, which has shown early promise in achieving our goal of eliminating the need for regular infusions to control and prevent bleeding episodes in patients with hemophilia B through a potentially one-time, intravenous administration of a highly optimized gene therapy,” said Jeffrey D. Marrazzo, chief executive officer of Spark Therapeutics. “Together with Pfizer, we look forward to working closely with the FDA to bring SPK-9001 to patients as quickly and responsibly as possible.”
About Hemophilia B

Hemophilia is a rare genetic bleeding disorder that causes the blood to take a long time to clot as a result of a deficiency in one of several blood clotting factors, and occurs almost exclusively in males. People with hemophilia face specific risks as they are not able to form blood clots efficiently and are at risk for excessive and recurrent bleeding from modest injuries, which have the potential to be life threatening. People with severe hemophilia often bleed spontaneously into their muscles or joints. The incidence of hemophilia B is one in 25,000 male births. People with hemophilia B have a deficiency in clotting factor IX, a specific protein in the blood. Hemophilia B is also called congenital factor IX deficiency or Christmas disease. Current standard of care requires recurrent intravenous infusions of either plasma-derived or recombinant factor IX to control and prevent bleeding episodes. There exists a significant need for novel therapeutics to treat people living with hemophilia.
About the SPK-FIX Program

Spark Therapeutics’ proprietary technology platform for selecting, designing, manufacturing and formulating highly optimized gene therapies was applied to developing compounds in the SPK-FIX program. The SPK-FIX program leverages a long history of hemophilia gene therapy research and clinical development conducted by Spark Therapeutics and its founding scientific team over nearly three decades. SPK-9001 is a novel bio-engineered adeno-associated virus (AAV) capsid expressing a codon-optimized, high-activity human factor IX variant enabling endogenous production of factor IX. SPK-9001 is being developed under a collaboration with Pfizer. Spark Therapeutics and Pfizer entered into a collaboration in 2014 for the SPK-FIX program, including SPK-9001, under which Spark Therapeutics is responsible for conducting all Phase 1/2 studies for any product candidates, while Pfizer will assume responsibility for pivotal studies, any regulatory activities and potential global commercialization of any products that may result from the collaboration.
About Spark Therapeutics
Spark Therapeutics, a fully integrated gene therapy company, is seeking to transform the lives of patients with debilitating genetic diseases by developing one-time, life-altering treatments. Spark Therapeutics’ validated gene therapy platform is being applied to a range of clinical and preclinical programs addressing serious genetic diseases, including inherited retinal diseases, liver-associated diseases, such as hemophilia, and neurodegenerative diseases. Spark Therapeutics’ validated and proprietary technology platform for selecting, designing, manufacturing and formulating highly optimized gene therapies has successfully delivered gene therapies with proof-of-concept data in the eye and liver. Spark Therapeutics’ most advanced product candidate, voretigene neparvovec (formerly referred to as SPK-RPE65), which has received both breakthrough therapy and orphan product designation, reported positive top-line results from a pivotal Phase 3 clinical trial for the treatment of rare blinding conditions. Spark Therapeutics’ hemophilia franchise has two lead assets: SPK-9001, in a Phase 1/2 trial for hemophilia B and SPK-8011, a preclinical candidate for hemophilia A. To learn more, please visit www.sparktx.com(link is external).
Pfizer Inc: Working together for a healthier world
At Pfizer, we apply science and our global resources to bring therapies to people that extend and significantly improve their lives. We strive to set the standard for quality, safety and value in the discovery, development and manufacture of health care products. Our global portfolio includes medicines and vaccines as well as many of the world’s best-known consumer health care products. Every day, Pfizer colleagues work across developed and emerging markets to advance wellness, prevention, treatments and cures that challenge the most feared diseases of our time. Consistent with our responsibility as one of the world’s premier innovative biopharmaceutical companies, we collaborate with health care providers, governments and local communities to support and expand access to reliable, affordable health care around the world. For more than 150 years, Pfizer has worked to make a difference for all who rely on us. For more information, please visit us at www.pfizer.com.
