Spark Therapeutics, Inc.

Who is Spark Therapeutics?

Spark Therapeutics is a gene therapy company focused on developing treatments for inherited genetic conditions, including eye diseases. Founded in 2013 and based in Philadelphia, Spark was acquired by Roche in 2019. Initially, Spark operated as an independent company within the Roche Group, and as of 2025, it is being fully integrated into Roche.

Relevance to the CHM Community

Choroideremia Research Foundation Acquires Spark Therapeutics, Inc., CHM Gene Therapy Assets, Advances Data Analysis
In 2025, Choroideremia Research Foundation (CRF) acquired all Spark Therapeutics, Inc. assets related to its SPK- 7001 gene therapy for treating Choroideremia (AAV2-hCHM-101) following the decision to discontinue the program....

Important note: Please note that any information about clinical trials, gene therapies, or genetic testing is for informational purposes only. The Choroideremia Research Foundation does not endorse any specific company, trial, or test. Patients should discuss questions with their healthcare provider.

Spark Therapeutics Sponsored Study

Safety and Dose-Escalation Study of AAV2-hCHM in Participants With CHM (Choroideremia) Gene Mutations

NCT: NCT02341807
URL: https://clinicaltrials.gov/study/NCT03496012
Intervention: BIOLOGICAL: AAV2-hCHM

Technical Summary: The 2-year interim results showed no significant loss or gain in vision in treated eyes for most patients. Best-corrected visual acuity (BCVA) remained within 15 letters of baseline in 13 of 15 treated eyes, indicating stable vision over that period. No serious treatment-related adverse events were reported; the therapy was generally well-tolerated. Mild procedure-related complications were noted in a couple of cases (e.g. one case of foveal thinning and one macular hole), suggesting some surgical risk to the fragile retina. Overall, the trial demonstrated safety of the subretinal gene therapy and maintenance of visual function, but no dramatic efficacy signal (no significant improvement in acuity) at 2 years.

Lay Language Summary: The two-year results showed that most participants maintained their vision in the treated eyes. Vision stayed within a small range of baseline levels in 13 out of 15 treated eyes, showing that eyesight remained stable over this period. The treatment was generally safe and well tolerated. No serious side effects related to the therapy were reported. A few mild procedure-related issues occurred, including one case of thinning in the central retina and one macular hole, which shows that there is some surgical risk for the delicate retina. Overall, the study showed that the subretinal gene therapy was safe and helped maintain vision, but it did not lead to significant improvements in eyesight after two years.