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28 February 2020

Rare Isn’t Rare: Accelerating Progress in Rare Disease Treatment

Kelly Lindert
M.D. Head of Metabolic Rare Diseases Clinical Development

When most people think of “rare,” they think of scarce, unusual, infrequent. The National Institutes of Health (NIH) defines rare diseases as those that affect fewer than 200,000 people.

While individual rare diseases may be uncommon, there are many different types of rare diseases. That means collectively, the number of people who live with rare diseases, including their families and caregivers, is by no means small. In fact, more than 300 million people around the world live with one or more of the more than 7,000 rare diseases identified. The majority of these conditions have no approved treatments and many include significant health complications. This represents an enormous unmet need.

On Rare Disease Day, we shine a light on the rare disease community—the patients, families, caregivers and advocates. We learn from their experiences. We share awareness of their challenges. We continue to do what we can to bring progress and care. 

Moderna’s mission is to deliver on the promise of mRNA science to create a new generation of transformative medicines for patients, including those with certain rare diseases. Hear more from the PA community.

I am grateful for and humbled by the lessons I have learned and continue to learn from the rare disease community. Hearing these voices is critical to me and our team as we work toward developing new treatments and understanding the potential impact of these treatments for the community.

I feel privileged to join the team at Moderna, as we are also conducting an observational study in patients with methylmalonic acidemia (MMA) and propionic acidemia (PA). We are learning so very much about the patients and their experiences living with these conditions.

We hope to learn so much more with our first interventional trials in MMA and PA patients. The first patient has been enrolled into the MMA study, and we look forward to understanding more about the potential of an mRNA approach to treatment. 

This commitment to learning and dedication to helping individuals with rare diseases is shared across our entire organization. Every day, we do what we can to more deeply understand the science and the people living with these diseases. We are inspired by the potential of mRNA technology, which is designed to target the root cause of several different rare diseases that currently have no approved treatment.

Our rare disease pipeline now includes five candidates in development for MMA, PA, glycogen storage disorder Type 1a (GSD1a), phenylketonuria (PKU) and Fabry disease. Alongside our MMA study, start-up is ongoing for our Phase 1/2 PA study. I am optimistic about continued momentum in advancing progress across these programs.

Rare Disease team

The Moderna team “shows their stripes” for Rare Disease Day.

I’m proud of our Rare Disease team at Moderna and their commitment to this important research. The work happening around us—at Moderna and beyond our walls—is so exciting because this signifies collective progress and fuels hope that we will one day be able to treat these diseases and improve the lives of patients around the globe.

Today, we thank the rare disease community for inspiring us, educating us and sharing their experiences. We invite them to continue to share their perspectives as we work toward meaningful progress in the treatment of rare diseases.