Community stories and news

Laura Steinbusch has a son, 5-year-old Enzo, who has been diagnosed with Leber congenital amaurosis 10, or LCA10. It has made Laura a patient advocate for this disease, and in this interview she explains how the diagnosis has changed her life.

The Netherlands boasts the most prominent patient organization for Usher syndrome. Part of their secret is the passion of the Board. We caught up with president Ivonne Bressers and the Board’s secretary Annouk van Nunen at Annouk’s home in Leiden.

During one of ProQR’s Expert Perspectives calls ProQR’s Chief Medical Officer Dr. Aniz Girach reviewed new data from an ongoing clinical trial of sepofarsen with Dr Ian MacDonald, Professor Emeritus from the University of Alberta.

Podcast on how the patient's perspective can positively impact research from protocol development to clinical trials. Featuring Francesca Diodati (information specialist, living with Leber congenital amaurosis) and Laura Brady (Fighting Blindness Ireland).

Podcast on the importance of accessible information during the COVID-19 era and the challenges that come with isolation. Both Molly Watt (web accessibility consultant) and Rebecca Alexander (psychotherapist) live with Usher syndrome, a condition causing combined blindness and deafness.

Molly Watt (25) is becoming a household name in the world of accessibility in technology. She is a young, independent entrepreneur, who frequently consults designers, web developers and UX experts on the subject of inclusion. The subject of accessibility, she says, is “anything, but black and white”.

It has been roughly two years since David Rodman became the Executive Vice-President Research & Development at ProQR. He was appointed to apply his knowledge of study design and genetic diseases on our pipeline for genetic eye diseases. In September of 2018, we were able to present positive interim results from the clinical study for sepofarsen, our potential therapy for Leber congenital amaurosis 10 (LCA10), a genetic disease that causes blindness in childhood.

The work at ProQR would not be possible without the help from patient organizations and foundations. One of our main supporters is the Foundation Fighting Blindness, who generously provided funding for the clinical development of QR-421a, our drug candidate for Usher syndrome and retinitis pigmentosa.

At a glance, it’s hard to tell Maartje de Kok – 41, married and mother of four – has Usher syndrome. Though she manages her life very well, it took her a long time to get to that point. “I have learned to be optimistic, but the somberness is always there.”

New therapies are thoroughly tested in clinical studies. This is necessary to ensure they are safe and efficacious, but for a company like ProQR, which aims to treat small groups of patients with rare diseases, innovating within the system is essential to removing the obstacles on the way to caring for patients. As one of our new faces of 2018, Jessica Ibbitson is trying to rethink the way we do clinical studies.

ProQR has a promising pipeline in ophthalmology programs that is built on RNA technology. According to Dr. Peter Adamson, ProQR’s Senior Vice President Ophthalmology Franchise, RNA may eventually help fulfill the ultimate ophthalmology promise that seems outrageously optimistic: to make blind people see again. In this interview Dr. Adamson expresses his reasons for optimism and the advancements in ProQR’s quest.

Dr. Ted Dryja is a member of ProQR’s Scientific Advisory Board. The American pioneer in the field of inherited retinal diseases brings a wealth of knowledge and experience to the table. At age 66 and after a series of important discoveries in his long career, Dr. Dryja joined ProQR to help push the organization forward. “I am excited about what RNA technology may have in store for the development and advancement of ProQR’s ophthalmology and other pipelines.”