Ophthalmic Orphan Programs

Science driven, retina focused company with multiple programs concentrated in orphan indications

Stargardt Disease

Ophthotech’s orphan ophthalmic disease strategy will be led by a randomized, controlled clinical trial assessing the safety and efficacy of Zimura (avacincaptad pegol), the Company’s C5 complement inhibitor, for Stargardt disease, a devastating inherited retinal orphan disease causing vision loss during childhood or adolescence for which patients have no approved treatment. This trial is scheduled to start by the end of 2017.

Ophthotech has engaged Foundation Fighting Blindness (FFB), a highly-distinguished organization recognized for its scientific commitment to orphan inherited retinal degenerative diseases with an established network of scientists and a robust patient registry, to provide the Company with information from its publicly available ProgStar study, the largest natural history study on Stargardt disease to date, which Ophthotech plans to use in the design of its planned clinical trial of Zimura for Stargardt disease.

Stargardt disease is a devastating inherited retinal orphan disease that causes vision loss during childhood/adolescence with no FDA-approved treatment option. There is a high unmet medical need for a treatment option. The estimated prevalence in the US is approximately 32,000 to 41,000 patients.1


Intermediate/Posterior non-infectious Uveitis

Ophthotech is planning a Phase 2a clinical trial of Zimura for intermediate/posterior non-infectious uveitis, an orphan inflammatory disease of the back of the eye. The study is planned to start in 2018.

Intermediate/Posterior Uveitis is a non-infectious, rare inflammatory disease of the back of the eye. There is a high unmet medical need for effective treatments with minimal local and systemic adverse events. The total estimated Intermediate/Posterior Uveitis prevalence in the U.S. is 38 in 100,000 or about ~120,000.2


Von Hippel-Lindau Syndrome

The National Eye Institute is leading a Phase 1/2 clinical trial of the Company’s drug candidate, Fovista® (pegpleranib) in combination with anti-VEGF therapy for the treatment of retinal manifestations of the orphan disease Von Hippel-Lindau Syndrome.

Von Hippel-Lindau Syndrome is an orphan disease where the ocular manifestation presents as retinal capillary hemangiomas that may leak, induce traction and cause vision loss. There is a high unmet medical need with no optimal treatment option available. The estimated prevalence in the U.S. is approximately 7,000.3


Patient Resources

To find out more about the symptoms and signs of AMD, please refer to these sites. Ophthotech is not responsible for the information provided by these organizations.

Clinical Trials




  1. Blacharski PA. Fundus flavimaculatus. In: Newsome DA ed. Retinal Dystrophies and Degenerations. New York: Raven Press; 1988:135–159.
  2. Orphanet J Dis. 2012; 7: 57. Published online 2012 Aug 29. doi:10.1186/1750-1172-57.
  3. Surv Ophthalmol. 2001 Sep-Oct;46(2):117-42.
  4. Int J Ophthalmol.2011; 4(1): 103–109. Published online 2011 Feb 18. doi: 0.3980/j.issn.2222-3959.2011.01.24