For many rare disease patients, the wait for treatment and research advancements can feel like a never-ending process. This wait is made more complicated by COVID-19, which has caused barriers for both research options and people who want help managing their illness. Some research has halted during the pandemic.
Cure Rare Disease is one of the many research companies learning to adapt to COVID-19. Cure Rare Disease founder and president Richard Horgan and his team are researching custom therapeutics for Duchenne muscular dystrophy, a condition that Horgan’s brother Terry lives with. Duchenne muscular dystrophy (DMD) causes progressive muscle degeneration, which leads to muscle weakness and other health complications.
Horgan talked to The Mighty about the importance of rare disease research, changes that his company had to make during COVID-19 and his goals for Duchenne muscular dystrophy research.
Here’s what Horgan told us:
Editor’s note: This interview has been edited for content and clarity.
Can you give us an overview of the custom therapeutics you’re working on and their importance to the Duchenne muscular dystrophy (DMD) community?
There are over 7,000 different rare diseases impacting over 400 million people worldwide. With such a wide range of rare diseases, the “one size fits all” approach is not sufficient. We collaborate with leading researchers to develop a customized therapeutics platform.
Our strategy is to create a common foundation from which our collaborators can take multiple therapeutic “shots on goal.” The process has four steps and begins with establishing a cell line unique to the individual. With this, we can better analyze the patient’s genetic mutations and apply the information to develop therapeutic candidates using CRISPR/Cas9, a gene-editing tool. Our team then determines which of the therapeutic “tools” will be most effective at restoring functional protein levels based on the individual’s genetics.
Of the therapeutic candidates, the lead candidate will be developed and optimized. Once complete, we will move into a single clinical trial. Our goal is to be in a clinical trial in one to two years. In parallel, we will begin to generalize the process by creating cohorts of different mutation groups and include other individuals. This is especially important for patients with DMD because not all patients have the same genetic mutations.
What have been the biggest challenges continuing rare disease research during the COVID-19 pandemic and how have you adapted?
Just making sure that research continues is a challenge in itself, we relocated our dosing study from Yale, which was closed down during COVID-19, to our collaborator Charles River Labs who remained open during the crisis. Fortunately, our science was able to continue and we are on track to submit our FDA meeting request, a big step in the drug development process, by the end of June.
Fundraising also poses a huge challenge. Canceling in-person events forced us to re-think our fundraising strategies. So, we started running webinars with pharmaceutical partners to drive awareness of how therapeutic development is impacted, launched a line of Cure Rare Disease wine and also launched a line of masks with another collaborator, Fritz & Friends.
We’re trying to think outside of the box to take advantage of new opportunities. For example, we started an e-sports initiative; since many of our patients and followers have disabilities, we feel as though gaming is a great equalizer for this community and offers an escape for patients who aren’t able to leave home. We aim to raise funds for research and also awareness of the importance of rare disease. Of course, we also took advantage of the federal programs to keep advancing.
Why is rare disease research so important?
Rare disease research is incredibly important to support! Rare disease impacts over 30 million Americans or 10% of the population. Unfortunately, given the lack of awareness, only 5% of the over 7,000 rare diseases have effective treatments or cures. You probably know someone impacted by a rare disease yet because awareness of rare diseases is low, you may not be aware. We need to increase awareness of rare diseases and provide treatments for people even if they are the only individual with that respective disease — a diagnosis shouldn’t be a death sentence.
What’s next? What stage is the project in and what’s the timeline for moving forward?
We’ve learned a number of critical lessons about how to be nimble during a crisis. Maintaining communication with stakeholders, families and the public was important before the crisis but is even more so during uncertain times.
Regarding the science, we will submit our preIND to the FDA by the end of June. This is a major step in getting permission to dose and one we are excited for since this will be a first-in-human drug. From there, we have one additional study left to run. This study, called a pharm-tox study, will be to look for additional efficacy signs and safety signals as well. It’s critical that we do no harm first and foremost.
Ultimately, our timeline for dosing the first patient is the end of 2020 or early 2021. For our second patient, we’ve shown that we can correct his cells in a dish and will begin preclinical development — figuring out how much of the drug to give for efficacy [dose] and the safety profile of the drug — soon.