The Patient Perspective – My Experience In A Clinical Trial
By Ed Miseta, Chief Editor, Clinical Leader
Despite being diagnosed at the age of three with an untreatable inherited retinal disorder (IRD), “out of sight, out of mind” has never been part of Alison Lynch’s approach to life. Encouraged by her parents to pursue her interests and dreams despite her visual impairment, Alison rode bicycles, tried her hand at basketball, and successfully completed college and law school (Juris Doctor degree). Today she provides legal services to incarcerated individuals who have mental health issues and competes in triathlons.
Alison has achromatopsia (ACHM), an IRD associated with extremely poor visual acuity (most affected individuals are legally blind), extreme light sensitivity resulting in daytime blindness, and complete loss of color discrimination. There is no specific treatment for ACHM, although deep red tinted glasses or contact lenses can reduce symptoms of light sensitivity and daytime blindness.
After years of following the evolving landscape of ACHM therapeutic development, Alison participated in one of the first clinical trials for a potential treatment for this incurable disease. Although that trial failed to demonstrate benefit, Alison continues to support ongoing efforts to develop a treatment that would provide meaningful visual improvements for patients with ACHM.
She also recently joined the Patient Advisory Committee for AGTC, a leading innovator of gene therapies for IRDs, including ACHM. In this role she provides a critical patient perspective that helps inform how AGTC communicates with patients, designs and executes clinical trials, and aligns its product development goals with the needs of patients.
In celebration of Clinical Trials Day on May 20, Alison recently spoke with Clinical Leader to share her perspectives on trial participation and the necessity to look at the big picture.
Ed Miseta: When were you first diagnosed with Achromatopsia (ACHM)?
Miseta: You participated in one of the first clinical trials for ACHM. How did you first become aware of clinical trials, and what prompted you to participate in one?
Lynch: I had been following some clinical trial recruitment sites and achromatopsia community social media pages, and I saw that a trial was recruiting participants with a particular achromatopsia-related mutation. I had always thought about participating in clinical research and felt compelled to learn more.
Miseta: What is your role on the AGTC Patient Advisory Committee? What impact has your participation -- as well as other individuals with IRD – had on the clinical trials conducted by AGTC?
Lynch: My role on the AGTC PAC is to evaluate materials for various clinical trials for accessibility and provide feedback from the perspective of a patient with achromatopsia. This includes new clinical trial awareness and educational materials for potential participants and healthcare professionals. It’s been incredibly rewarding to feel like I’m “paying it forward” by potentially helping others in my position to feel more comfortable making informed decisions about their role in clinical research.
Miseta: What was the trial experience like for you?
Lynch: It was a combination of exciting, rewarding, tiring, and challenging - sometimes all these things within a few hours! My highest high was getting almost a week of barely perceptible positive visual change and seeing textures I’d never seen before. My low point came days later when I awoke with a bright red eye that could barely function. I then had to travel immediately to National Institutes of Health (NIH) for evaluation, and, after two days of treatment and tests, I learned that my eye was inflamed to the point where vision could be lost if the trial implant wasn’t removed. I’m so grateful that I had a team of doctors, nurses and techs who bent over backwards to be supportive. I always tell people that, while there was never a dull moment in being a lab rat, I’ve never had a second of regret for being one.
Miseta: Is there anything the drug company or the clinical site could have done to make your trial experience better or easier?
Lynch: Absolutely not. The NIH went above and beyond to ensure that I was comfortable in the days leading up to the procedure, during the procedure itself, and while managing the complications afterwards. They recognized how personal this is for patients and took the time to explain everything in as much detail as each participant needed.
Miseta: Patient recruitment in clinical trials is a challenge for most drug developers. What advice do you have for companies conducting trials?
Lynch: In this age of social media, there are so many platforms available and so many ways to contact people. Besides the big ones that everyone knows (Facebook, Instagram, YouTube), there are a myriad of other ways to connect with the younger generation (ex: Clubhouse, Telegram, TikTok) to generate awareness and disseminate information. Getting involved on new platforms can open recruitment to many others, especially when trying to recruit younger patients who are more likely to be using newer social media platforms.
Miseta: For patients contemplating trial participation, what factors do you recommend they consider prior to making that decision?
Lynch: It’s very important to consider the amount of time a trial will take - not just the number of years enrolled -- but also the travel time, frequency of visits, downtime after the procedure, and possible downtime after complications. Of course, the potential for complications - minor or major - should always be evaluated and carefully considered.
Secondly, the results, both positive and negative, should be taken into account. Obviously, everyone wants to see improvement, but it’s important to understand that in a Phase I/II safety trial you may not obtain the same level of improvement as someone who participates in either a higher dose group or in a later stage.
Additionally, it’s important to really understand the absolute worst-case scenario, such as total loss of vision in the study eye. Could I live like that? If I waited for a later-stage clinical trial, there was a chance of being included in the control group and not receiving the investigational therapy at all.
Lastly, it’s critical to evaluate your trust in the company or facility conducting the trial. Do your research. Read up on their policies around clinical trial research. Do the people recruiting give you sufficient answers and take the time to go through the process in clear, direct terms? These are all significant factors in your trial experience.
Miseta: Do you have any regrets regarding your trial participation? Anything you would have done differently?
Lynch: I really don’t have any regrets, even though my trial didn’t indicate that the treatment was effective. I take comfort in knowing that this “failed” trial contributed to pushing research away from CNTF-based treatment and further toward gene therapy models, which initial data suggest may be able to provide more benefit.
Miseta: Despite your diagnosis, you have not let the disease define you. You have done many of the things most children do, such as ride a bike and play baseball. You also completed college and law school. Do you have any advice for parents on how they can support children with ACHM?
Lynch: My advice is to let your kids define their own limitations. Don’t set them in advance, and don’t put your kids in a bubble. While there will be things your children cannot do because of visual limitations, don’t immediately discount those activities as “impossible.” Instead, encourage them to pursue creative solutions. My parents never let me use my vision as an excuse, so I learned to adapt, rather than admit defeat.
Miseta: Although ACHM has no treatment, there are new treatments on the horizon. What can you tell us about them?
Lynch: I’ve been following the trials closely, and the initial public reporting looks very encouraging. The trials are identifying criteria (dose, age, retinal issues) that are more likely to result in positive outcomes, while managing the safety issues that can arise from gene therapy surgery. Stem cell therapies are also an interesting alternative, although fewer U.S.-based trials are ongoing in this field.