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


Trial recruitment is enabled by the Foundation Fighting Blindness' patient registry, My Retina Tracker Registry, which includes 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.

Usher Syndrome Coalition

The Usher Syndrome Coalition is also partnering with ProQR for the clinical trial. Patients diagnosed with Usher syndrome can visit the USH Trust registry to become a part of a pool of researchers to tap for the trials. According to its website, the USH Trust registry is the largest international Usher syndrome registry in the world. 

Earlier this year, the Usher Syndrome Coalition announced a partnership with ProQR to support clinical trial enrollment for a potential therapy for USH2A mediated retinitis pigmentosa.

At the time, de Boer noted that the company was pleased to be an industry partner for the Usher Syndrome Coalition USH Trust registry.

“We strive to be at the forefront of developing new treatments for genetic eye diseases and are committed to putting patients first and incorporating their voice at every step of drug development,” de Boer said at the time. “Creating wide awareness of our clinical research and harnessing the community’s own motivation through their engagement with the USH Trust is going to play a key role as we advance our ultevursen program for people living with USH2A mediated retinitis pigmentosa.”

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