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.
Expert perspective's series
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 2 - Leber congenital amaurosis
July 20, 2020
Dr. Girach presents the first snapshot of data from the ongoing InSight Phase 1/2 extension 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.
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 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.