Patients & Families

Patients are our guiding force. On a global scale we strive to understand their individual journeys and unique needs. As we work to advance our pipeline of investigational therapies, we recognize the essential need to understand and gain important perspectives from patients, caregivers and leaders in patient advocacy.

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Meet our inspiration

The resilience of the people we serve is our inspiration to push through barriers to create a world where no life is limited by genetic disease. These are just some of the individuals who drive us to do more.

Qudsiya, living with Leber congenital amaurosis due to mutations in the RPE65 gene
Qudsiya Naqui: no obstacle too formidable in her experience with an RPE65-mediated form of blindness
Eric, living with choroideremia
Photo by Stewart Harvey
“People with conditions like ours talk of trying to build a visual scrapbook, placing our visual memories in our brain.”
-Eric Hartman
Curt, living with hemophilia B
“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 Krouse

Patient initiatives and other resources

Spark Therapeutics is supporting two important patient initiatives: one to help create a global online inherited retinal disease (IRD) community and one to help increase access to genetic screening for people with IRDs.

A shared vision

Spark Therapeutics sponsors aSharedVision, where the IRD community can stay informed about retinal gene therapy research, and discover the crucial nature of genetic testing. 

Spark Therapeutics has developed ID YOUR IRD, or IDentify YOUR Inherited Retinal Disease for patients in the U.S. Participating physicians determine patients’ eligibility and send test samples to an independent lab, which processes the sample and delivers test results that may identify the specific gene mutation(s) causing the IRD. This information may help determine the best course of action for the patient. Subject to the initiative’s terms and conditions, eligible patients receive the genetic test offered by ID YOUR IRD, as well as confidential telephone consultation sessions with independent genetic counselors, at no cost to patients. We are also working to support access to genetic testing in South America and Europe.

Additionally, we work with rare disease advocacy groups from around the world, which can help connect patients and families to education, research, support services and each other. Below, please find a listing of some of the partners from the advocacy community that support those affected by the diseases that are the focus of our research.

Inherited retinal diseases (IRDs)

Hemophilia and other blood-clotting disorders

Huntington’s disease

Batten disease

Rare diseases


Are you an advocacy organization interested in working with Spark? Contact us by email, at, or by calling 1-855-SPARKTX / +1 215-220-9300. For patients and families looking to become involved in our patient advocacy efforts including disease awareness programs, please contact us at

Spark Therapeutics clinical trials

Spark Therapeutics is discovering and developing investigational gene therapies for debilitating inherited diseases, including inherited retinal diseases (IRDs), liver-mediated diseases such as hemophilia, and neurodegenerative diseases. To see our current pipeline of investigational therapies, click here. For more information about our ongoing clinical trials, visit and search for “Spark Therapeutics.”

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