By: Daniel de Boer
First and foremost, CUREUsher has created a welcoming community for everyone affected by Usher syndrome ? patients, loved ones, caregivers, and the medical community. It means a lot to me that I am able to share my story here.
As the father of a son with a cystic fibrosis, I am keenly aware of the far-reaching impact of rare genetic diseases. I?ve found that the most important aspect of becoming part of the rare disease community has been to listen to my son and other patients who actually have the disease to learn how best to help them. In my case, my son?s diagnosis prompted me to start a company, ProQR Therapeutics, to find a treatment for his disease and for other rare genetic disorders. For this reason, the driving force behind ProQR (pronounced ?pro-cure?) is patients and their quality of life, and we are constantly pushing to develop treatments that will actually impart meaningful benefits to a patient.
When I was getting the company off the ground, I worked with a team of experts in rare genetic diseases to find a treatment approach that would address the underlying genetic component of the disease while focusing on the patient experience. We decided to go after RNA therapies, drugs that correct RNA, which is the ?blueprint? for proteins ? proteins that do not function properly due to mutations in the genetic material that codes for them. ?Targeting RNA is particularly appealing because it doesn?t permanently affect a person’s DNA ? the source of the genetic code ? reducing the risk of permanent side effects. Injecting RNA therapies is also much more acceptable than other types of genetic therapy that require complicated retinal surgery. Because our RNA therapies get to places in the eye where other genetic therapies can?t get to, we think we can target diseases that are otherwise untreatable ? in fact, this is what led us to study inherited retinal diseases. Usher syndrome can?t be treated with gene therapy as this disease starts in the peripheral retina and develops inward. With gene therapy, the drug is delivered to a specific area in the retina, so the therapy would only be effective in that specific, small area of the retina. Given that Usher is a peripheral disease, the therapy needs to reach the whole retina, and this is something we took into account when we were inventing and optimizing our therapy for Usher syndrome. We needed to develop something that reaches the entire retinal area.
We started a program at ProQR dedicated to treating vision loss in patients with Usher syndrome type 2 due to specific mutations. We initiated a clinical trial, STELLAR, to assess the safety and efficacy of our candidate drug, QR-421a, which targets mutations in exon 13 of the USH2A gene that affect approximately 16,000 patients worldwide. In addition, we are developing QR-411, targeting the approximately 1,000 patients who have Usher syndrome due to a different mutation in the USH2A gene. Our hope is that we are able to reverse the effects of this disease in the eye and potentially reverse blindness.
Besides working to develop a treatment for Usher, we also work to better understand the patient story and what aspects of a patient?s quality of life the disease affects the most. We frequently host patients at the ProQR headquarter in the Netherlands or our office in Boston so that our employees can meet the families they hope to help. It is also beneficial for us to hear from the patients themselves to understand more about their day to day life and how we can potentially better help them.
In the early days of our program for Usher syndrome, I remember vividly hearing an Usher patient speak at a company meeting. Here was this young woman handing out paper glasses with two tiny holes to look through and explained this was close to what vision she had left. Of course, I knew the numbers before but to actually look around the office seeing what she saw shocked me. These encounters are crucial in our patient centric approach and are a great motivation for our employees. Inspired by this real-life experience we got to thinking how we can help others understand the impact of retinal diseases. This led to developing an app ?Thru My Eyes? (available in the Apple app store) that uses filters in your phone?s camera to experience how someone affected by a certain disease sees the world.
We have set ambitious goals to help as many patients as we can using our RNA therapies. By keeping patients at the center of our goals, we aim to deliver transformative therapies to those who suffer from genetic blindness.
CUREUsher would like to express it’s deep gratitude to Daniel de Boer for taking the time to write for us and sharing his story with the Usher community.?