28 Jul SLC13A5 at the ASGCT 26th Annual Meeting
Author: Sydney Cooper, Clinical Research Assistant Lead at UT Southwestern
During this past May, I was fortunate to travel from Dallas to Los Angeles for the 26th American Society for Gene and Cell Therapy (ASGCT) annual meeting. This meeting presented the opportunity for me to share some of the work that the caregiver community, TESS Research Foundation, Dr. Kimberly Goodspeed, and I have completed together at UT Southwestern Medical Center.
THE CAREGIVER IMPACT PROJECT
In November of 2022, I completed my master’s capstone project that focused on how SLC13A5 Deficiency affects patients and their caregivers. I could not have done this without the enthusiastic participation of the TESS caregiver community. Twenty-five SLC13A5 Deficiency caregivers took the time to voluntarily complete this survey to teach researchers, including myself, that the impacts of this disease extend beyond what is seen in the clinic. In addition to the seizures, developmental delay, and mobility challenges, this disorder affects families emotionally, financially, and socially. This demonstrates that families of people affected by SLC13A5 Deficiency value a broad spectrum of clinical outcomes, emphasizing the importance of including this perspective in therapeutic development.
THE VALUE OF THE CAREGIVER VOICE
Early in 2023, Dr. Goodspeed and I applied to present our results to the attendees of the ASGCT meeting in an effort to bring more awareness to the rare disease and to emphasize the importance of the caregiver perspective in scientific research. The project was accepted as a poster presentation.
These poster sessions are opportunities for researchers to share results with the scientific community before results are published in a publication. For example, preliminary results from the survey (shown in the graph below) indicate that caregivers of older patients reported the lower seizure impact and higher cognitive delay impact than the younger group. Both groups are highly impacted by communication and motor symptoms.
Throughout the meeting, I met rare disease parents and family foundation founders who were actively educating researchers and advocating for the communities they represent. I am fortunate to see the resilience and tenacity of rare disease caregivers firsthand in my position as a research coordinator, and I am consistently impressed by the impact their stories have on people who are new to the world of rare disease. Representing TESS Research Foundation, Kim Nye’s presentation proved to be particularly memorable. Several attendees noticed the TESS logo on my presentation poster and explained to me that they were struck by her words and impressed with her perseverance. It is clear that testimony from a rare disease mother and research foundation founder is an invaluable motivator for researchers and the TESS community has an inspirational champion in Kim.
Because of the patient and caregiver representation at meetings such as this, it is becoming increasingly acknowledged that caregivers are a necessary part of the team when it comes to caring for the rare disease community. Developing studies that solicit the perspective of everyone affected by a disorder helps to ensure that patient and caregiver impact is effectively considered as new therapies are developed and throughout the clinical trial process, and I was pleased to share ours as an example.
Furthermore, I was encouraged by the attendance of presentations at the meeting that were focused on the patient impact of treatments like gene therapy. For example, efforts include advocating to insurance companies about the necessity of treating diseases directly with gene therapy while emphasizing that there is little point in dedicating the time and effort for developing gene therapy if the intended consumers cannot afford the cost or cannot travel to receive it. This demonstrates that families are recognized as important players when it comes to therapy implementation.
I have learned that there are many innovative individuals working towards improving the lives of those affected by rare diseases, and this could not be accomplished without patients and caregivers on the team, led by research foundations like TESS. I want to thank the caregivers who took the time to participate in the online survey study in 2022 and taught researchers like Dr. Goodspeed and me what is important and impactful for caregivers in this community. As for next steps, we plan on publishing the results in a peer-reviewed publication so that the broader community is able to learn from this study. It is important that all members of the community are given the opportunity to learn how SLC13A5 Deficiency affects not only their loved ones, but all others who are living similar experiences. Additionally, this data can inform the design of future clinical projects for SLC13A5 Deficiency to maximize the impact of the effort that this community dedicates to research.
Thank you to the families, researchers, and partners for making this possible!