Spark Therapeutics Initiates Phase 1/2 Clinical Trial of SPK-CHM for Choroideremia, Expanding its Pipeline of Potential Treatments for Rare, Blinding Conditions

PHILADELPHIA, Jan. 20, 2015 /PRNewswire/ -- Spark Therapeutics, a late-stage gene therapy company developing treatments for debilitating, genetic diseases, announced today it has initiated enrollment of a Phase 1/2 clinical trial of its product candidate, SPK-CHM, for patients with choroideremia (CHM). CHM is an X-linked inherited retinal dystrophy which manifests in affected males in childhood as night blindness and a reduction of visual field, followed by progressive constriction of visual field, ultimately leading to complete blindness. The disease is characterized by deletions or mutations in the CHM gene, resulting in defective, or absent, Rab escort protein-1 (REP-1). CHM affects an estimated 12,500 males in the United States and the five major European markets and there is currently no approved pharmacologic treatment for the disease. 

With SPK-CHM, Spark is leveraging the experience and technology utilized in the development of its lead Phase 3 program, SPK-RPE65, including the same vector, target cells and route of administration, as well as the same manufacturing process.  

"Choroideremia is a rare, blinding condition which affects males most severely at middle age, a critical time personally and professionally," said Jeffrey D. Marrazzo, co-founder and chief executive officer of Spark. "It is our hope that with SPK-CHM we can build on our experience with our lead program, SPK-RPE65, potentially bringing a treatment to these patients in need."

The Phase 1/2 trial is an open-label, dose-escalating trial designed to assess the safety and preliminary efficacy of sub-retinal administration of SPK-CHM. Spark currently plans to enroll up to 10 patients afflicted with the CHM genetic mutation. In addition to evaluating safety, the trial will help define the dose required to achieve stable or improved visual function and identify appropriate endpoints for subsequent clinical trials. In preclinical studies conducted in collaboration with Jean Bennett, M.D., Ph.D., the F.M. Kirby Professor of Ophthalmology in the Perelman School of Medicine at the University of Pennsylvania (Penn), and the Center for Retinal and Ocular Therapy (CAROT) at Penn, SPK-CHM demonstrated the ability to restore REP-1 protein production, intracellular trafficking and retinal structure. The Phase 1/2 trial will be conducted at The Children's Hospital of Philadelphia (CHOP) and Penn, leveraging the same clinical study teams that conducted the Phase 1 and Phase 3 clinical trials of SPK-RPE65.

"On behalf of the international choroideremia community, we congratulate Spark Therapeutics for obtaining regulatory clearance to proceed with clinical trials for the first potential treatment for CHM," said Christopher Moen, M.D., president of the Choroideremia Research Foundation. "We are thrilled at the potential for Spark to deliver a treatment to patients with CHM to stop progressive vision loss and prevent blindness. The CRF would like to recognize the pioneering work of scientists at the University of Pennsylvania and The Children's Hospital of Philadelphia, whose tireless efforts led us to this critical milestone. The announcement of the initiation of clinical trials is a pivotal point in the CRF's history, and we are proud to have provided funding to Penn for the pre-clinical work that laid the foundation for this achievement.  It is great to have Spark Therapeutics lead this effort and we pledge our continued support as the clinical trials proceed."

"Throughout my career's work developing genetic therapies for inherited retinal dystrophies, I have had my target set on a number of different conditions, in particular, choroideremia," said Dr. Bennett, who is also one of Spark's scientific co-founders and a scientific advisor on the SPK-RPE65 clinical trials being conducted at CHOP. "The SPK-CHM program, for the first time, creates the potential for patients to use their vision for longer and see more things."   

The launch of this clinical trial is the latest development in an ongoing collaboration between Spark and Penn. Expanding upon an earlier collaboration around SPK-RPE65, in December of 2014 Spark and Penn, through Penn's technology commercialization organization, the Penn Center for Innovation (PCI), entered into an exclusive license agreement to certain Penn-owned intellectual property rights, including assets related to the choroideremia program. 

For more information on Spark and its pipeline of gene therapy candidates, including its Phase 3 program for rare blinding conditions, please visit www.sparktx.com/pipeline.

About Spark Therapeutics     

Spark is a gene therapy leader seeking to transform the lives of patients suffering from debilitating genetic diseases by developing one-time, life-altering treatments. Spark's initial focus is on treating orphan diseases where no, or only palliative therapies, exist. Spark's most advanced product candidate, SPK-RPE65, is in a fully-enrolled pivotal Phase 3 clinical trial for the treatment of rare blinding conditions. Spark is leveraging the experience and technology utilized in the development of SPK-RPE65 to address a broad spectrum of blinding conditions, starting with the development of SPK-CHM for the potential treatment of choroideremia, currently enrolling a Phase 1/2 clinical trial.  Spark also is establishing a pipeline of gene therapy candidates to treat hematologic and neurodegenerative disorders, including through a global collaboration with Pfizer Inc. around the development and commercialization of its SPK-FIX program for the treatment of hemophilia B.  Spark's integrated gene therapy platform builds on two decades of research, development and manufacturing at The Children's Hospital of Philadelphia, including human trials conducted across diverse therapeutic areas and routes of administration. To learn more, visit www.sparktx.com.

About SPK-CHM

SPK-CHM is a gene therapy product candidate for the potential treatment of choroideremia (CHM), an inherited retinal dystrophy that causes progressive vision loss, ultimately leading to complete blindness.  CHM is characterized by deletions or mutations to the CHM gene, resulting in defective, or absent, Rab escort protein-1 (REP-1).  SPK-CHM builds on the experience and technology utilized in the clinical development of Spark's lead Phase 3 program, SPK-RPE65, including the same vector, target cells, and route of administration, as well as the same manufacturing process. CHM affects an estimated 12,500 males in the United States and five major European markets and there is currently no approved pharmacologic treatment for the disease. To learn more about SPK-CHM visit www.sparktx.com/pipeline. 

SOURCE Spark Therapeutics

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