Foundation Fighting Blindness, InformedDNA screening patients for pivotal clinical trials for Usher syndrome and retinitis pigmentosa clinical trials

ProQR's Phase 2/3 trials center around its emerging therapy, ultevursen (previously named QR-421a), and are accepting patients with mutations in exon 13 of the USH2A gene.

The Foundation Fighting Blindness is partnering with ProQR Therapeutics and InformedDNA to accelerate patient identification and enrollment in clinical research for people with Usher syndrome or non-syndromic retinitis pigmentosa (RP) due to mutations in exon 13 of the USH2A gene.

RP is a degenerative disease of the retina that currently leads to legal blindness in nearly all patients and affects approximately one in 4,000 people throughout the world. Usher syndrome is a rare and debilitating disease that causes RP in combination with hearing loss or deafness. ProQR's Phase 2/3 trials center around its emerging therapy, ultevursen (previously named QR-421a), and are accepting patients with mutations in exon 13 of the USH2A gene.

According to a news release, the ultevursen program will be looking to recruit individuals with early to moderate and advanced vision loss. The ultevursen program is taking place at multiple sites in the U.S. and EU, following observations of vision improvements in the Phase 1/2 trial for ultevursen (previously named QR-421a).

Moreover, the release noted that the foundation is using its exclusive My Retina Tracker Registry to identify patients with mutations in USH2A-exon 13 to accelerate identification of candidates for the trials. Registry members who are contacted by Foundation staff may make an appointment with an InformedDNA board-certified genetic counselor, who will review the clinical study opportunity and screen the patient for likely study eligibility. There is no cost for individuals to speak with counselors from InformedDNA about the trials.

"To get vision-saving therapies across the finish line, we need to identify participants for current and future clinical trials. That was the impetus for launching the My Retina Tracker Registry," said Todd Durham, PhD, senior vice president of clinical research outcomes at the Foundation Fighting Blindness. "Finding trial participants is challenging because IRDs are rare.”

Durham noted that the foundation is excited about this collaboration with InformedDNA because it allows the foundation to showcase the value of the Registry as a resource for both patients with inherited retinal diseases, such as USH2A-mediated retinitis pigmentosa, and the researchers developing therapies to save and restore their vision.

"This collaboration should accelerate the recruitment process for these trials and provide our Registry members valuable access to genetic counselors at InformedDNA, who can discuss whether these trials may be appropriate for them,” he added in a statement. “As with every clinical trial, we encourage our members to consult with their ophthalmologist."

Karmen Trzupek, MS, CGC, director of clinical trial services at InformedDNA, explained that the USH2A gene is the most common gene associated with both retinitis pigmentosa and Usher syndrome, making it a critical problem to solve for this patient community,

“This collaborative recruitment effort, sponsored by ProQR and supported by the Foundation Fighting Blindness My Retina Tracker Registry and InformedDNA's specialty genomics services, represents an important step in expanding access to clinical trials for patients with these rare diseases,” Trzupek said in a statement. “Once potential candidates for the trials are identified through the Registry, our virtual screening process is highly efficient and effective at engaging patients in their home communities and decreasing time to enrollment in the trials."

"We are pleased to partner with the Foundation Fighting Blindness and InformedDNA to use the My Retina Tracker Registry to help enable genetic diagnosis, improve access to clinical trials, and raise awareness of ongoing clinical research and our ultevursen program for people living with USH2A-mediated retinitis pigmentosa," Daniel A. de Boer, Founder and CEO of ProQR Therapeutics, said in a statement.