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28 February 2018

Expanding Our Commitment to Rare Disease Therapeutics

John Mendlein
Ph.D., President, Corporate and Product Strategy

Each year, the last day of February serves as a reminder to pause and reflect on the challenges and unique needs of patients and families living with rare diseases. It is an opportunity for all members of the patient, medical, and scientific communities to shine a light on the urgent need to improve the care and support for those impacted by such conditions. At Moderna, we are working to intensify this light across an array of rare genetic diseases – and our intent is to bring the full potential of our mRNA-based medicines to create new therapies for untreatable, and previously undruggable ailments.    

We have long believed that our platform has great potential in treating rare genetic diseases. With this potential, we recognize the tremendous responsibility we have to patients, and to be a thoughtful and rigorous partner in our efforts to help address their needs. As a pre-commercial company, we have given significant thought to the impact our approach can have, and we have a clear vision that guides our efforts. This vision is centered on a commitment to bring the potential of our innovative medicines to patients, put patient needs at the center of all our efforts, and to use our platform approach and associated scale to bring value to health systems.  

The potential of our innovative medicines to treat patients with rare genetic diseases is profound. Our mRNA platform is a completely novel approach to drug development that overcomes many of the limitations of traditional modalities. Rather than replacing proteins or genes, mRNA instructs cells to produce specific proteins. The patient’s cell then becomes the factory that produces the needed protein.

Our scientists tap into this powerful biology for patients, and it is our belief that once we demonstrate the ability to successfully replace a missing protein in one rare genetic disease, we should be able to treat other like diseases using a similar approach. This provides us with a unique opportunity to make a difference in not just one or two diseases, but across a vast array of rare genetic diseases in a relatively short period of time.

Over the past six months we have started to validate these beliefs with new data and have added new rare disease development candidates to our pipeline. The potential new medicines are for the treatment of methylmalonic acidemia (MMA) and propionic acidemia (PA), diseases with defective enzymes along the same metabolic pathway.  These diseases are caused by a genetic defect that results in either too little or no production of a critical metabolic enzyme produced by liver cells, leading to recurring, life-threatening metabolic events as the patient’s blood becomes highly acidic. Typically impacting young children, these events cause devastating long-term impairments – and currently the only effective treatment is a liver or kidney transplant. We now are looking at new opportunities to use our mRNA platform to instruct the liver to direct expression of missing enzymes in patients with other genetic diseases.

Putting patient needs at the center of our efforts means understanding patients as individuals and as members of the communities in which they live. This requires a critical investment of time and resources for any company. Given our unique potential across rare diseases, we need an advocacy approach that enables us to engage with a broad range of communities. As we go forward, defining this approach to ensure that we are meeting the needs of rare disease communities is a critical focus for the company.

We also believe that we have real potential to bring value to healthcare systems. With the speed at which we are able to advance programs and the ability to scale development and manufacturing to target multiple rare genetic diseases, we hope to drive improved patient outcomes – and the associated economic benefits – to a broad swath of the rare disease community. The benefits to patients and health systems could be significant.

On this Rare Disease Day, we are still in the early stages of our efforts, but we have a great deal of excitement and optimism that we can bring better outcomes to those living with rare genetic diseases. Through rigorous, innovative science and our deep commitment to listening to and working with patients and patient communities, we believe we are at the forefront of a change in how medicines for rare diseases may be delivered in the future. 

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