More than 60 leading retinal disease clinical researchers from around the world gathered in Baltimore on June 11, 2018 to discuss findings from ProgStar, the Stargardt disease natural history study launched by the Foundation Fighting Blindness Clinical Research Institute (FFB-CRI) in 2013.
FFB-CRI invested more than $6 million in the international study. The prospective arm of the study followed 259 Stargardt disease patients for 2 years. The retrospective arm enrolled 251 patients, and the last patient visit was in 2017. To date, 11 study-related research papers have been published in peer-reviewed journals. Analyses of the data continue with additional publications in process.
“If you build it, they will come,” Janet Cheetham, PharmD, FFB-CRI’s ProgStar project lead, underscoring the goal of boosting industry interest in therapy development, said in a news release. “If clinical trial endpoints for Stargardt disease are known, drug development will be more efficient.” She noted that six clinical trials are currently underway for Stargardt disease.
“We are excited to disseminate our extensive knowledge of disease progression to academic and industry communities for this devastating form of inherited macular degeneration,” Hendrik P.N. Scholl, MD, MA, ProgStar study chair, and professor and chairman of the Department of Ophthalmology, University of Basel, director of the newly founded Institute of Molecular and Clinical Ophthalmology Basel (IOB) and adjunct professor of Ophthalmology at the Wilmer Eye Institute, Johns Hopkins University, said in the news release.
“Therapy development for Stargardt disease presents many challenges. The condition is genetically heterogeneous and it varies in severity. Also, the rate of disease progression has not been well characterized, nor are there robust outcomes for evaluating disease progression in human studies. ProgStar is a major step forward in understanding disease progression and identifying outcome measures to effectively advance clinical trials for treatments,” Dr. Scholl said.
Progression of vision loss in Stargardt disease is difficult to measure over time using standard clinical tools like an eye chart. The ProgStar workshop on June 11 considered three disease-measurement alternatives — optical coherence tomography (OCT), fundus autofluoresence, and microperimetry — for potentially measuring disease progression and treatment efficacy in clinical trials.
Stargardt disease leads to significant loss of central vision. It is often diagnosed in children and young adults. In most cases, the condition is caused by biallelic mutations in the gene ABCA4. Approximately 30,000 people in the U.S. have Stargardt disease with tens of thousands more affected in Europe and around the world.