Applying 21st century approaches to treating rare inherited diseases

Patients, companies and regulatory agencies are in a race against the clock. Many serious diseases and medical conditions progressively worsen over time. This creates an unavoidable tension between the need for new therapies that can halt or potentially improve patients’ lives and the critical requirement to ensure the safety of every person who volunteers to help advance clinical research.

At AGTC, our work with patients who are living with rare inherited diseases has given us a deep appreciation for their sense of urgency to gain access to new therapies that have the potential to maintain or improve their lives. As a company committed to making such therapies a reality, patients need, and safety are critical factors that drive development of our clinical and regulatory strategies. We are acutely aware that our success depends on achieving balance between the two. Toward this end, our trials are designed with outcome measures that enable a straightforward regulatory pathway but also have clinical relevance to patients.


Our most advanced programs are designed to treat Inherited Retinal Diseases (IRDs). Because rare IRDs occur relatively infrequently, their biology, pathology and patterns of progression may not be as well characterized as common diseases such as diabetes and other prevalent health conditions. This often creates a challenge in identifying clinical trial endpoints that are both informative about the impact that an investigational therapy has on the underlying disease biology as well as how it can improve patients’ lives. Despite the challenges, we see an opportunity to lead the industry in incorporating new scientific information into our trials as they are identified and validated. Such advances may occur more slowly in rare IRDs given the limited number of patients from whom data can be collected, but we are poised to move rapidly once new discoveries have been made.

Scientific research is an essential component of advancing how new therapies for rare IRDs are developed and evaluated in clinical trials. At AGTC, we know the critical importance that speaking with rare IRD patients and their families and supporters plays in our development and clinical strategies. Through our conversations with an advocacy group representing patients we were able to identify light sensitivity as one of our most critical trial endpoints for one of our product candidates.


patient conversation, developing innovative gene therapies for people with rare IRDs can be challenging due to the small patient population. It’s critical to have a certain number of participants in each trial in order to ensure that safety and efficacy outcomes are properly evaluated.

One way to gain insight into how the presentation, progression and symptomatology of a rare IRD can differ from patient to patient is through natural history studies. Such studies, which enroll patients with a particular disease and then follow them over time but do not include therapeutic intervention, can provide data that helps to identify or define specific disease stages and may shed light on how the timing or severity of a particular symptom reflects or relates to the underlying disease. AGTC is conducting several natural history studies in order to characterize patients’ condition, measure testing variability, and estimate rates of progression of clinical parameters.

In addition, at AGTC, we encourage those who feel they may have or know someone who may have a rare IRD to undergo genetic testing and counseling to ensure correct diagnosis of the disorder. In addition to empowering patients to be informed about the genetic cause of their disease, genetic testing information could help inform the design of future clinical trials evaluating novel therapies with the potential to advance the care and outcomes of patients with rare IRDs.

Companies developing novel therapies for rare diseases, including rareIRDs, often compete with one another for intellectual property, clinical investigators and clinical trial participants. However, it is important for each of us committed to improving the lives of patients with these diseases to recognize the need for collaboration – among ourselves, academic researchers, clinicians, patients and regulators. Success in advancing new therapeutic approaches requires that all stakeholders in the medical research ecosystem work together to balance the urgency of now with the critical need for long-term safety and efficacy that can truly transform patients’ lives.


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