|March 13, 2014 – The Foundation Fighting Blindness Clinical Research Institute (FFB CRI), supported by a significant grant from the Shulsky Foundation, is expanding its ProgSTAR natural history study of Stargardt disease to include patients with a very rare, autosomal dominant form of the condition caused by mutations in the gene PROM1. Known as Stargardt disease type 4 (STGD4), it is estimated to affect a small number of patients, with only 41 individuals reported in scientific literature worldwide. The expanded study for STGD4 is called ProgSTAR-4.
In 2013, the $4.8-millon ProgSTAR study was launched by FFB and began enrolling people with autosomal recessive Stargardt disease type 1 caused by mutations in ABCA4. Known as STGD1, it is the world’s most common form of early-onset macular degeneration affecting about 30,000 people in the United States and tens of thousands more around the world.
The overall goal of ProgSTAR and ProgSTAR-4 is to develop a better understanding of Stargardt disease progression and how to effectively and quickly measure it in clinical trials. That information will help researchers and biopharmaceutical companies investigate the efficacy of therapeutic intervention and accelerate the regulatory approval process for emerging therapies.
“While we need much more knowledge about all forms of Stargardt disease, relatively little is known about STGD4,” says Hendrik Scholl, M.D., of the Wilmer Eye Institute, Johns Hopkins Hospital, and ProgSTAR’s study director and protocol principal investigator. “We are delighted by the additional support from the Shulsky Foundation to help us better diagnose STGD4 patients, distinguish them from those with STGD1 and facilitate development of treatments they desperately need.”
As many as 250 people will be enrolled in ProgSTAR and ProgSTAR-4 across research centers in the United States and Europe. Investigators are monitoring disease progression of study participants for two years using a number of state-of-the-art imaging and vision measurement tools.
“There are several biopharmaceutical companies developing therapies for Stargardt disease, and they are watching ProgSTAR and ProgSTAR-4 very closely,” says Patricia Zilliox, Ph.D., chief drug development officer at FFB CRI. “What we learn from our studies will help them design human studies and select the clinical-trial endpoints that will enable them to gain regulatory approval to move vision-saving treatments out to the people who need them.”