Working to Change the Future for Patients with Rare Metabolic Disorders
February 28, 2019
By Lin Guey, Ph.D.
Senior Director, Rare Diseases
Kathy Stagni gave birth to a baby girl, Melissa, in 1988. Only four days later, Melissa slipped into a coma and was diagnosed with a rare metabolic disorder called propionic acidemia, or PA for short. PA is caused by a missing enzyme involved in breaking down certain proteins and fats and is part of a group of disorders called organic acidemias. Currently, there are no approved medicines that treat the underlying causes of PA or other organic acidemias.
Today, in addition to being a mother and working a full-time job, Kathy is Executive Director of the Organic Acidemia Association (OAA). Thanks to Kathy and her group’s efforts, organic acidemia disorders such as PA, methylmalonic acidemia (MMA), isovaleric acidemia and glutaric acidemia, have now been added to the recommended uniform newborn screening panel in the U.S. across all 50 states.
A few of my colleagues and I had the pleasure of attending OAA’s bi-annual meeting last year in Minnesota. Kathy organizes this meeting for OAA in collaboration with Fatty Oxidation Disorders (FOD), a family support group for another set of rare metabolic disorders. This meeting connects families with each other as well as with expert doctors and researchers. Kathy’s leadership at this meeting and beyond has made a real difference and impact for this community.
My role at Moderna is to lead a cross-functional effort to advance potential medicines for MMA and PA. I’m part of a dedicated team focused on bringing a new class of medicines based on messenger RNA (or mRNA) to patients with rare diseases. I learn from my colleagues, physicians and many others in this journey, but I learn the most from patients and their caregivers.
The work we’ve started to do with rare disease patient organizations like OAA and the Propionic Acidemia Foundation (PAF) is inspiring. Building relationships early with advocates and listening to their stories and priorities enables us to better understand what is meaningful to patients and the broader community. This input helps us immensely as we consider how to design the overall drug development program.
With mRNA, we believe we can finally start to consider treating the underlying cause of many rare diseases. In fact, we recently received approval from the US Food and Drug Administration (FDA) to start a Phase 1/2 study of the investigational medicine mRNA-3704 in patients with MMA in the U.S. This is exciting as it’s our first rare disease program to move into a clinical trial and it puts us one step closer to determining the safety and effectiveness of this investigational mRNA medicine. Additionally, the Moderna team is working to advance investigational mRNA medicines forward for other rare diseases -- PA, phenylketonuria (PKU) and Fabry disease.
We value and appreciate the many important roles that patients, their families and advocates play in helping to create positive change – from awareness to support to policy engagement to drug development and more. On Rare Disease Day, we join others in celebrating heroes like Kathy whose individual and collective voices are making a real difference. It’s why my colleagues and I come to work every day.