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FDA Breakthrough Therapy Designation #55: Rare Disease Start-Up Spark Therapeutics’ Gene Therapy

November 6, 2014

On November 6th, Spark Therapeutics (ST), a Philadelphia-based rare disease biotech start-up, announces that the company’s lead gene therapy product candidate, SPK-RPE65, receives the coveted FDA Breakthrough Therapy Designation (BTD). The BTD is for Nyctalopia or night blindness in people with Leber’s congenital amaurosis because of RPE65 gene mutations. There is currently no pharmacologic treatment available. SPK-RPE65 is given as an injection into the eye.

One year ago,  Children’s Hospital of Philadelphia (CHOP) invests $50 million in ST, to develop gene therapies for orphan diseases. Since the company’s launch, $83 million in financings have been secured from eight life sciences institutional investors. In September 2014, FierceBiotech, names ST as one of 2014’s “Fierce 15 biotechnology companies” and is named as one of BioSpace’s “Top 30 Life Science Start-ups To Watch in the U.S.”.

SPK-RPE65 is a gene therapy that is being developed to target blinding conditions, Inherited Retinal Dystrophies (IRDs), which are caused by autosomal recessive mutations in the RPE65 gene. ST’s initial product program uses Adeno-Associated Virus (AAV) vector technology, which is designed to “encapsulate a genetic sequence that has been demonstrated to be an effective vehicle for delivering genetic material into targeted cells.” ST has worldwide rights to their gene therapy product.

SPK-RPE65 is currently in an ongoing Phase III study for Inherited Retinal Dystrophies (IRDs), with expected data to be reported in the 2nd half of 2015. ST expects to file a FDA Biologics License Application (BLA) in 2016. SPK-RPE65 has ODD in Europe and in the US.

FDA ODD Database Record For SPK-RPE65

Generic Name: Recombinant adeno-associated virus retinal pigment epithelium gene vector AAV2-hRPE65v2
Trade Name: n/a
Date Designated: 06-24-2008
Orphan Designation: Treatment of Leber congenital amaurosis due to RPE65 mutations.
Orphan Designation Status: Designated
FDA Orphan Approval Status: Not FDA Approved for Orphan Indication
Sponsor: Spark Therapeutics, Inc. 3737 Market Street Suite 1300 Philadelphia, PA 19104



Spark Therapeutics Pipeline


FDA BTD Approval Chart

FDA BTD Statistics Chart.

Please Note: “Flickr – Nicholas T – Bows” by Nicholas A. Tonelli from Pennsylvania, USA (Bows) [CC-BY-2.0] | Wikimedia Commons.

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