TX RARE works to improve access and health outcomes for nearly three million Texans living with rare diseases. Khrystal Davis, Founder of TX RARE and mother of a son with Spinal Muscular Atrophy (SMA), has been the organization’s leading voice for the development of innovative treatments and improved patient access. She is on the front lines of efforts to limit coverage of these critical cures and treatments for patients – particularly in the rare disease community.
Khrystal recently testified before the U.S. House Energy and Commerce Health Subcommittee highlighting the need for continued research and development for the 95% of rare diseases without a treatment.
We had the opportunity to connect with Khrystal and hear more about what the promise of gene therapy means to her family and the rare disease community.
What inspired you to establish TX RARE?
Advocacy for the rare disease community is personal to me. I joined the rare disease community in 2011 when doctors diagnosed our newborn son, Hunter, with SMA Type I. At that time, doctors told us there was no treatment and no hope. They advised us to take Hunter home and enjoy the time we had left with him, which they expected to be about three months.
Ten years later, SMA has three FDA-approved treatments. The first approval came in 2016, and the FDA approved a gene therapy for SMA in 2019. Doctors no longer need to tell parents there is no treatment and no hope for their children.
But our work is not done. Now we must make sure children who need the treatments can get them. One way is by securing newborn screening for SMA in every state. We’re over halfway there, but we can’t afford to stop until each state is screening for SMA.
My personal goal is to help rare disease patients secure pre-symptomatic diagnosis and treatment to achieve the best health outcomes possible.
Why is gene therapy so important for the rare disease community in Texas specifically?
The Texas rare disease population makes up about ten percent of the total U.S. rare disease population. Our community includes patients with more common rare diseases like Amyotrophic lateral sclerosis (ALS), Duchenne muscular dystrophy, and Cystic fibrosis as well as those with ultra-rare diseases like Jansen’s Disease and Progeria.
Texas is becoming a leader in the research and development of gene therapy through Texas institutions and new biopharmaceutical companies. The pioneering research of Steven Gray, Ph.D. is particularly exciting. The Steven Gray Lab develops gene therapy for common rare diseases and ultra-rare diseases like Multiple Sulfatase Deficiency. In many cases, ultra-rare disease populations are told they don’t have enough patients to fulfill clinical trial requirements of regulators, like the Food and Drug Administration, so it is great to see researchers like Dr. Gray working to change that.
Did the COVID-19 pandemic change how you think about the benefits of gene therapies for rare disease patients?
We learned a valuable lesson during the pandemic on how vulnerable our medical supply chain can be for rare disease patients, in particular. Adhering to rare disease therapeutics is crucial for patients to improve and maintain their baseline health. Unfortunately, we saw many rare disease patients struggling to maintain access to treatments when shelter in place orders began.
Gene therapies provide a durable treatment that would significantly decrease the burden for rare disease patients and their families during any time of future pandemics, natural disasters, or other events that would interrupt access to maintenance therapeutics. This is one of many reasons why we need to double down on the development of gene therapies.
What are some of the major barriers to access you see for gene therapies and how can we address these?
Two significant barriers TX RARE is advocating to address are research funding and access to early diagnosis.
Gene therapies are changing the way we treat rare diseases, and we have many more patient communities with unmet needs than we have researchers working to develop innovative therapies. At TX RARE, we’re advocating for the creation of Rare Disease Diagnostic and Research Institute of Texas (RDDRIT). Through RDDRIT, we would increase our opportunities to secure funding to advance rare disease diagnostics and research in Texas. This institute would operate like the renowned Cancer Prevention and Research Institute of Texas (CPRIT), which contributes meaningfully to advances in cancer prevention and treatment. Additional funding is essential for researchers, like Dr. Gray, to grow their research labs and continue their work to develop more gene therapies.
And we cannot treat what we do not diagnose. TX RARE, along with IGT, is advocating for improved access to diagnostics through more robust newborn screening programs.
It takes an average of seven years to secure an accurate rare disease diagnosis. Time is not on the side of critically ill babies and children. Doctors need a fast and accurate diagnosis to prevent long-term effects by providing the proper treatment when possible.
We are proud of our work to successfully advocate for a newborn screening preservation account. This account makes it possible for Texas to work toward screening for conditions as they are included on the Recommended Uniform Screening Panel (RUSP) (a list of disorders that the Secretary of the Department of Health and Human Services recommends for states to screen as part of their state universal newborn screening programs).
As a Patient Advocate Advisory Council member, what do you hope IGT will accomplish?
TX RARE joined IGT’s Patient Advocate Advisory Council to help identify solutions to remove barriers to gene therapies for rare disease patients. We can do this faster by working together across patient, scientific, medical communities and industry . We can help the rare disease patients we serve secure their best possible health outcome, living longer and healthier lives. I’m honored to work alongside IGT to help rare disease patients by improving access to GRTs.
As a rare disease patient advocate, I see the increased importance of regulatory and policy reform to improve access for the rare disease community. IGT’s work focuses on critical policy issues. I’m honored to be part of the leaders helping ensure patient access to these transformative treatments.