USH2014 Presentations - Dr. Patricia Zilliox, Therapy and Clinical Trials

Delivered by Patricia Zilliox at the International Symposium on Usher Syndrome.

Download the presentation slides here.

Zilliox, P.

Foundation Fighting Blindness, Clinical Research Institute, Columbia, MD


The Clinical Research Institute is a subsidiary of the Foundation Fighting Blindness with the focus of accelerating development of promising therapies for retinal degenerative diseases toward clinical trials and regulatory approvals.

To move a treatment into human studies requires vast capital resources, strong regulatory expertise, and clinical-trial know-how. Many of these promising therapies are emerging from academic centers or incubators with limited experience in drug development and limited financial resources.

The Clinical Research Institute’s mission is to identify promising therapies (e.g., small molecules, biologics, gene therapies, stem cells therapies), and for which preclinical efficacy and safety have already been demonstrated in pre-clinical models.

Strong therapeutic candidates are evaluated by members of the Scientific Advisory Board and by drug development experts. The Clinical Research Institute prioritizes these therapies based on their chances of success, as well as gaps in resources, expertise, management and finances and will assist with clinical-development expertise and funding to get these treatments into human studies.

In parallel, the Clinical Research Institute is building close relationships with Big Pharma (e.g., Sanofi) to create visibility and awareness of these therapies, so their development can be taken over until commercialization.

One of the challenges is the absence of clinical trial endpoints that have been validated and accepted by the FDA and European regulatory agencies. These agencies want guarantees that the treatments are safe and also bring a significant clinical benefit for the patients.

The Clinical Research Institute is taking on this challenge through programs such as ProgSTAR, a natural history study of Stargardt disease. ProgSTAR has been designed in collaboration with world experts with the objective of following up to 250 genotyped Stargardt disease patients for two years, measuring disease progression using state of the art imaging and functional testing equipment. The study will enable to validate new clinical trial endpoints and greatly improve study design and potential for success.

The Clinical Research Institute is also leading an effort to validate the ellipsoid zone, as measured with spectral domain optical coherence tomography, as a possible clinical endpoint for some patients with retinitis pigmentosa. The basis of these efforts comes from work published by David Birch, Ph.D., at Retina Foundation of the Southwest, and Richard Weleber, Casey Eye Institute, Oregon Health & Science University.

Another Foundation-supported resource for better understanding disease progression and accelerating enrollment in clinical trials is My Retina Tracker, a state-of-the-art patient registry implemented in collaboration with the Office of Rare Diseases. All patients with retinal degenerative diseases are encouraged to enroll in the registry.