Our Commitment to Hemophilia

One of our areas of research at Spark Therapeutics is hemophilia, an inherited bleeding disorder caused by mutations in the genes that encode the clotting factors. These factors are normally synthesized in the liver. Led by researchers and clinicians with long-standing commitment to the hemophilia community, we recognize the essential need to understand and gain important perspectives from patients, caregivers and leaders in the community. Learn more about our commitment to hemophilia and our hemophilia team below.

VIEW OUR INVESTIGATIONAL GENE THERAPY RESEARCH PROGRAMS

What is hemophilia?

Hemophilia is a rare genetic bleeding disorder that causes a delay in clot formation as a result of a deficiency in one of several blood-clotting factors. The most common type of hemophilia is hemophilia A or factor VIII deficiency, affecting 1 in 5,000 males. Hemophilia A is about four times as common as hemophilia B, which is due to a deficiency of factor IX.

Hemophilia is inherited, meaning that it’s passed through the parents’ genes or DNA, although approximately one-third of cases are due to spontaneous mutation, or change in a gene. The genes for hemophilia A and B are carried on the X chromosome. Therefore, hemophilia is called an X-linked (or sex-linked) disorder. Men are affected by hemophilia and women are considered “carriers.” Though rare, women can have hemophilia, too.

The current standard of care for hemophilia is to control or prevent bleeding episodes through clotting factor replacement therapy, which is taken for life. Replacement factor is either recombinant (genetically engineered) or plasma-derived (from healthy blood donors) and must be delivered by frequent intravenous (IV) infusions.

Gene therapy research

Gene therapy research is an investigational approach to treat or prevent genetic disease. This research is showing exciting potential for patients with hemophilia.

"I've come to embrace that I can help families and children growing up today have a good and successful life, by sharing my own perspective growing up with hemophilia."

-Curt
Curt, living with hemophilia B

View perspectives from our hemophilia team

Your hemophilia community contact

Tessa Field
Patient Advocacy Lead

“As a genetic counselor, I’m passionate about a few things in healthcare: listening, championing the patient’s voice and needs, and creating a common language between all people.”

patients@sparktx.com

Resources for hemophilia

We work with advocacy groups from around the world to help connect patients and families to education, research, support services and to each other. Below, please find a partial listing of several groups from the hemophilia advocacy community.




World Federation of Hemophilia
http://wfh.org
American Thrombosis and Hemostasis Network
American Thrombosis and Hemostasis Network
http://athn.org
Hemophilia Federation of America
Hemophilia Federation of America
http://hemophiliafed.org
National Hemophilia Foundation
National Hemophilia Foundation
http://hemophilia.org
The Coalition for Hemophilia B
The Coalition for Hemophilia B
http://hemob.org/
Eastern Pennsylvania Chapter of National Hemophilia Foundation
Eastern Pennsylvania Chapter of National Hemophilia Foundation
http://hemophiliasupport.org
Hemophilia Foundation of Southern California
Hemophilia Foundation of Southern California
http://hemosocal.com/
New England Hemophilia Association
New England Hemophilia Association
http://www.newenglandhemophilia.org
New York City Hemophilia Chapter
New York City Hemophilia Chapter
https://www.nyhemophilia.org/
Lone Star Chapter of National Hemophilia Foundation
Lone Star Chapter of National Hemophilia Foundation
http://lonestarhemophilia.org/