Applied Genetic Technologies Corporation (AGTC), Blueprint Genetics, and Foundation Fighting Blindness, have announced that AGTC, a biotechnology company conducting human clinical trials of adeno-associated virus (AAV)-based gene therapies for the treatment of rare diseases, will join the My Retina Tracker® Program as a new scientific collaborator to enhance development of its investigational gene therapies for inherited retinal diseases (IRDs). The My Retina Tracker Program, a collaboration between Blueprint Genetics, Foundation Fighting Blindness and InformedDNA, is an open access, no-cost program that offers individuals with IRDs easy access to high-quality genetic diagnostics and genetic counseling. This program has become one of the largest volume genetic testing initiatives for IRDs globally.
As a scientific collaborator, AGTC will have access to specific deidentified genetic data and expert healthcare providers to help AGTC rapidly identify potential candidates eligible for their clinical trials. AGTC’s initial focus in the collaboration will be X-linked retinitis pigmentosa (XLRP), specifically RPGR-associated disease. Disease-causing variants in RPGR are the third most common cause of IRDs. AGTC has initiated an expansion of its Phase 1/2 gene therapy clinical trial and is planning to initiate a Phase 2/3 clinical trial in early 2021 in males with XLRP with a pathogenic variant in the RPGR gene.
“We are delighted to be among the scientific collaborators in the My Retina Tracker Program who share our mission of improving the vision of patients with IRDs. Patient registries are a rich source of information for sponsors of clinical trials, particularly for rare diseases, where patient identification can be more challenging,” said Sue Washer, President and CEO of AGTC. “The critical genetic data from the My Retina Tracker Program will benefit current and future patients as it is an important step in being able to participate in clinical trials that may lead to effective treatments for these diseases. We thank all the registrant participants for their contribution to a greater understanding of these conditions.”
Patients taking part in the My Retina Tracker Program are offered Blueprint Genetics’ 322-gene panel that includes comprehensive coverage of major IRD genes, noncoding variants, copy number variants and mitochondrial genome analysis. One of the hallmarks of the panel is the high performance of RPGR testing, including the difficult-to-sequence ORF15 region which harbors approximately 80% of disease-causing RPGR variants. Blueprint Genetics has done extensive work to develop high-quality testing capabilities for this gene using a unique NGS-based approach in order to maximize XLRP diagnostic yield. The My Retina Tracker Program has also received excellent feedback regarding the comprehensive genetic counseling provided by InformedDNA. All patients taking part in the program are provided no-cost, post-test genetic counseling by expert genetic counselors from InformedDNA.
“With the very strong focus on gene–specific and gene variant–specific therapies dominating the late preclinical and clinical trials pipelines, knowing the genetic basis of disease is an important component of any inherited retinal disease diagnosis,” said Dr. Brian Mansfield, executive vice president research and interim chief scientific officer of the Foundation Fighting Blindness. “The Foundation is delighted to partner with industry partners, like AGTC, and other non-profit foundations, to be able to make genetic testing accessible to people with an inherited retinal disease—at no cost to patients. By partnering with industry sponsors to proactively genotype people with these rare diseases, our partners not only provide a valuable service to affected people but also significantly reduce their overall expense in finding potential clinical trial participants, compared to solo screening programs.”
“Over the past few years, we have invested in improving the quality and performance of genetic analysis of this challenging RPGR gene. It has been a privilege to witness the significance of these efforts to patients and is even more rewarding now as we have opportunities to collaborate with biopharmaceutical companies like AGTC that are developing product candidates with the potential to change the lives of these patients with RPGR-targeted gene therapy,” said Blueprint Genetics Executive Medical Director, Dr. Tero-Pekka Alastalo.