This series of videos provides an in-depth review of topics related to our clinical trial data, R&D pipeline and serves as a platform to inform the medical community. With full transparency and the help of physicians, patients and other IRD experts we tackle important questions in this field.
Our Chief Medical Officer, Aniz Girach, MD is the host for the series. Dr. Girach is an ophthalmologist with experience in academia and clinical practice as well as industry and drug development.
Episode 3 - Disease education and endpoints in Usher syndrome and non-syndromic Retinitis Pigmentosa
February 22, 2021 - The call features a discussion between Aniz Girach, MD, Chief Medical Officer of ProQR and Paul Yang, MD, PhD of Casey Eye Institute. The discussion focuses around which vision measures are most informative in the context of this disease setting, the role of patient baseline and disease progression, and an overview of the objectives of the Phase 1/2 Stellar trial of ultevursen (QR-421a) for USH2A mediated Usher syndrome and retinitis pigmentosa.
Dr. Paul Yang, MD, PhD
Dr. Paul Yang is an assistant professor in ophthalmic genetics and immunology at the Casey Eye Institute (Oregon Health & Science University) where he specializes in patients with inherited retinal degenerations, autoimmune retinopathy, and gene therapy associated uveitis. He is a principal investigator and sub-investigator on numerous gene therapy and neuroprotection clinical trials for inherited retinal degenerations. Dr. Yang continues to conduct translational research in his lab with the goal of bringing new medical treatments to the clinic for patients with inherited retinal degenerations. Dr. Yang received doctorates in medicine and neurophysiology at Dartmouth Medical School, which was funded by an MD/PhD pre-doctoral award from the National Institutes of Health. He completed residency and fellowship in ophthalmology at the Moran Eye Center in Salt Lake City, during which he first developed an interest in inflammatory eye diseases and degenerative retinal disorders. Thereafter, he pursued a fellowship in ocular immunology and uveitis at the Massachusetts Eye Research and Surgery Institution in Cambridge, Massachusetts, as well as a fellowship in ophthalmic genetics and inherited retinal degenerations at Casey Eye Institute in Portland, Oregon. He was funded by the Foundation Fighting Blindness (FFB) Clinical Research Fellowship Award, FFB Career Development Award, and NIH K08 to evaluate the effectiveness of mycophenolate as a neuroprotective agent in inherited retinal degenerations. For his pioneering work, he was awarded the 2015 ARVO/Alcon Early Career Clinician-Scientist Research Award.
Episode 2 - Sepofarsen InSight study update for Leber congenital amaurosis 10
July 20, 2020 - Dr. Girach presents the first snapshot of data from the ongoing InSight Phase 1/2 extension clinical trial of sepofarsen including new preliminary data on second eye treatment. Sepofarsen is ProQR’s investigational RNA therapy for Leber congenital amaurosis 10 due to the p.Cys998X mutation in the CEP290 gene. Dr. MacDonald and Dr. Girach then discuss the interpretation of the data and key takeaways in relation to the overall sepofarsen experience to date. Participation in this extension study was offered to patients who completed their participation in a Phase 1/2 trial of sepofarsen. The 12-month results of the Phase 1/2 trial were presented at ARVO 2020 by Steven Russell, MD.
Episode 2 - ProQR Expert Perspectives
Sepofarsen - RNA therapy for CEP290 Leber congenital amaurosis
A full length recording of this Expert Perspectives call is also available. You will have to register first. View the full length episode.
Dr. Ian M. MacDonald
Dr. MacDonald is one of the top experts in the Inherited Retinal Diseases field, and is currently Professor Emeritus in the Department of Ophthalmology and Visual Sciences, University of Alberta and past Chair of the Department for 20 years. Prior to becoming Chair in Edmonton, in 1992, he was a Career Scientist of the Ontario Ministry of Health at the University of Ottawa. From 2007-2008, he was Branch Chief of Ophthalmic Genetics and Visual Function at the National Eye Institute of the NIH. Dr. MacDonald completed residency training in Family Medicine at McGill University, Montreal, Ophthalmology residency training at the University of Ottawa and Clinical Genetics fellowship training at the University of Ottawa, Queen's University, Kingston and the Hospital for Sick Children, Toronto. He is an Editor Emeritus of the Canadian Journal of Ophthalmology and currently serves on the Editorial Board of the American Journal of Ophthalmology for Genetics.
Episode 1 – Usher Syndrome and Retinitis Pigmentosa
June 22, 2020 - The primary results of ultevursen (QR-421a), ProQR’s investigational RNA therapy for Usher syndrome and retinitis pigmentosa are discussed. Dr. Koenekoop and Dr. Girach discuss the role of genetic testing and outcome measures related to visual field and visual acuity, including OCT EZ area, DAC, FST, and BCVA. Additionally, the call features questions around the relative significance of slowing disease progression, stabilization, and visual improvement. Being affected by Usher syndrome, Molly Watt discussed her experience and gives her perspective.
Dr. Koenekoop is a Professor of Pediatric Surgery, Human Genetics and Ophthalmology at McGill University. He is also the Director of the Laboratory for Retinal Genetics and Therapeutics. Additionally, he is Chief of Pediatric Ophthalmology and has been involved in numerous global clinical trials for patients with inherited retinal diseases (IRDs). As a clinician-scientist, he focuses on finding genetic causes and new treatments for childhood blindness and has participated in international collaborations leading to the discoveries of multiple new IRD genes. He is currently the PI on seven different human clinical trials in Montreal, testing the safety and efficacy of therapies in adults and children with severe visual loss due to Choroideremia, retinitis pigmentosa, Usher syndrome and Leber congenital amaurosis patients. He has published over 150 refereed publications, lectured around the world extensively, and holds grants from NIH, CIHR, Fighting Blindness Canada and Reseau du Quebec.
Molly Watt is a Keynote speaker and an Accessibility & Usability consultant, specializing in assistive technology and design for those with sensory impairments, with the goal to find solutions for online inclusivity. A lot of Molly's work stems from her life experiences as an individual with Usher syndrome-deafblindness.