Healthcare Professionals
At Spark Therapeutics, we are leveraging our unique technical and R&D expertise as we strive to bring gene therapies to patients. We are committed to working with the healthcare community as we expand our partnership to continue advancing state-of-the-art gene therapy research, education and support.
Visit the Spark Therapeutics website for U.S. healthcare professionals to access medical, scientific, and educational resources.
Access to genetic testing for IRDs
Inherited retinal diseases (IRDs, also known as inherited retinal dystrophies) are a group of rare blinding conditions caused by one of 250+ different genes. It is estimated that more than two million people live with inherited retinal diseases (IRDs) globally, but only a small percentage of them have been genetically screened because of limited access to and information about genetic testing. In response to feedback from advocates, families affected by IRDs and healthcare professionals about the current barriers preventing access to genetic screening for IRDs in a consistent manner, Spark Therapeutics has been working closely with physicians to help facilitate access to genetic screening for people with IRDs.
Learn more about genetic testing with these resources:
Eye Want 2 Know, Spark’s newest resource, aims to equip patients living with an IRD with the knowledge and resources they need to get started with genetic testing. Learn more about the benefits of genetic testing, locate a provider and connect with others in the community.
In order to ensure Eye Want 2 Know is a comprehensive resource for genetic testing for IRDs, Spark Therapeutics also recently unveiled an enhanced身份证你太少了®gene testing initiative that tests for variants in approximately 250 genes known to cause IRDs and includes optional genetic counseling, both available at no charge*. Learn more about our expanded genetic testing panel and terms and conditions of the program.
*这一倡议美国resi开放dents only, subject to theTerms and Conditionsof the program.
Spark Therapeutics sponsorsaSharedVision®, where the IRD community can stay informed about retinal gene therapy research, read stories from community members, access advocacy resources and learn about the importance of genetic testing.
VisitFoundation Fighting Blindnessfor additional genetic testing resources.
References:
Berger W, Kloeckener-Gruissem B, Neidhardt J. The molecular basis of human retinal and vitreoretinal diseases. Progress in Retinal and Eye Research. 2010;29(5):335-375.
Sahel J-A, Marazova K, Audo I. Clinical Characteristics and Current Therapies for Inherited Retinal Degenerations. Cold Spring Harbor Perspectives in Medicine. 2014;5(2).
Veleri S, Lazar CH, Chang B, Sieving PA, Banin E, Swaroop A. Biology and therapy of inherited retinal degenerative disease: insights from mouse models. Dis Model Mech Disease Models & Mechanisms. 2015;8(2):109-129.
RetNet: Summaries of Genes and Loci Causing Retinal Diseases. RetNet. https://sph.uth.edu/retnet/sum-dis.htm. Updated January 4, 2019. Accessed January 9, 2019.
Maintaining an active dialogue with the scientific community
Spark Therapeutics seeks to actively engage with physicians, researchers and other healthcare professionals to better understand and provide education about diseases related to our therapeutic areas of interest.
The urgent needs of patients and the challenges before us demand uncompromising focus, tenacity and determination to create a fully integrated company built on world-class science, high-quality manufacturing and thoughtful, sustainable access. We embrace our ethical obligation to develop innovative, investigational treatments for life-altering and life-threatening genetic diseases as rapidly as possible without compromising product quality or patient safety.
To learn more, please click on one of the topics below.
Adverse Events in U.S.
and Product Complaints
To report an adverse event or a product complaint,click hereand complete the submission form, or contact us by calling 1-855-SPARKTX/+1 855-772-7589.
Medical Questions
For HCPs in the US, go towww.SparkMedical.com. For HCPs outside the US,click here完成我们的医疗信息申请表or contact us by calling 1-855-SPARKTX (1-855-772-7589).
Our ongoing commitment to clinical research in hemophilia
Spark Therapeutics has clinical studies of investigational gene therapies for hemophilia A and an observational study, which is collecting real-time data about people living with hemophilia A.
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Phone: 1-855-SPARKTX / +1 215-220-9300
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