The recent proliferation of gene therapy solutions has led to new possible outcomes for patients and those suffering from a variety of diseases. In particular, gene editing tools such as CRISPR have been lauded for their potential to help treat and understand these maladies.
However, for the large population of people suffering from a rare disease, gene therapy provides a unique opportunity to study and remedy conditions that may have lacked a solution for a long time. While each of these conditions may not have a particularly large patient population associated with it, they are collectively numerous. Monogenetic disorders, which constitute around 80% of rare diseases, were in fact the focus of some of the first gene therapy research efforts.
In the past, these disorders have been overlooked due to a limited market for treatments and cures, often leaving these individuals without a solution. Now, progress in the field of gene therapy has made studying these disorders much more viable, with proven processes to aid research efforts.
Even in the government, rare disease research now enjoys dedicated support. The National Institute of Health Common Fund allocated a significant portion of funds to examining the origins of rare diseases as well as better methods of diagnosis. The NIH also launched the Therapeutics for Rare and Neglected Diseases, a program dedicated to overcoming challenges in gene therapy for these disorders, as well as creating a set of best practices for minting new techniques in the field.
There is a lot of buzz around researchers discovering better delivery methods for gene therapy. AAV viral vectors have received particular attention at recent rare disease conferences for their ability to deliver treatment options that only generate mild immune responses and can be used on a variety of types of tissue.
Genome editing has also been discussed in depth lately, with the insertion of a corrective gene now more feasible than ever before. These techniques are valuable for patients with rare diseases, as similar methods can be used to treat many disorders. Going forward, these technologies will both have to be approved on a regulatory basis and ensure that safety is not a concern.
And for researchers studying Duchenne muscular dystrophy (DMD), a disorder characterized by muscular degeneration, gene therapy may provide them with the tools to immediately make a difference in the lives of patients. Solid Biosciences is attempting to study multiple facets of DMD, including its genetic origins and variants of the disease, though not without challenges. Part of the company’s efforts have gone towards enabling safe clinical trials, though they are optimistic that gene therapy may provide some measure of immediate relief for patients that standard pharmaceutical research may not.
With new improvements to gene therapy techniques come new opportunities to learn more about rare diseases and provide treatments that have long been considered infeasible. Though progress is not without its hurdles, companies are poised to improve outcomes for patients that have previously fallen by the wayside.