The U.S. FDA granted Orphan Drug Designation to SPK-9001 for the treatment of hemophilia B.  SPK-9001 is developed by Spark Therapeutics, a biotechnology company based in Philadelphia, PA, and it is currently under collaborative development agreement with global pharmaceutical company Pfizer.  Hemophilia B is a rare X-linked genetic disorder caused by mutations of the factor IX gene, resulting in missing or defective factor IX and consequently leading to increased propensity for bleeding.  SPK-9001 is a bio-engineered adeno-associated viral (AAV) vector composed of a bioengineered AAV capsid and a codon-optimized expression cassette encoding a high-specific activity variant of human coagulation factor IX.  It can potentially deliver a high-activity factor IX gene to the liver.  It is currently under a Phase I/II study for evaluation of safety and efficacy.

 

References:

  1. http://www.sparktx.com/pipeline
  2. http://www.sparktx.com/sites/default/files/fields/press-release/spark-pfizer_partnership_release_final_12.5.14v2_0.pdf
  3. https://clinicaltrials.gov/ct2/show/NCT02484092?term=Hemophilia+B&recr=Open&lead=spark&rank=1