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28 February 2021

Rallying for Rare: Working Together to Help Patients in Need

Ruchira Glaser
SVP and Therapeutic Area Head of Rare Diseases, Cardiovascular Disease and Autoimmune Diseases

Only by working together can we maximize our impact on patients. We know that great science is being done around the world, and we are committed to being a part of this broader ecosystem as our team works to deliver new mRNA medicines for patients with rare diseases. Also, only through strong partnerships with patients and advocates will we be able to deliver on the promise of mRNA for the rare disease community.

Since our celebration of Rare Disease Day last February, we’ve made strides to build the Moderna team, renew our focus on Rare Disease and strengthen our science and study designs. We are energized by the safety and efficacy of our mRNA vaccine against COVID-19, and even more committed to using mRNA to address rare diseases.

Our rare disease pipeline now includes four candidates in development for Methylmalonic Acidemia (MMA), Propionic Acidemia (PA), Glycogen Storage Disorder Type 1a (GSD1a) and Phenylketonuria (PKU). We have also collaborated in Pulmonary Arterial Hypertension (PAH) and Cystic Fibrosis (CF). I’ll outline some of the progress we’ve made over the past year.

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 our team.

Last year, as we were preparing to initiate clinical work on organic acidemia, the COVID-19 pandemic led to a decision that we previously announced to pause ongoing enrollment recruitment in the study—for the purposes of protecting the health of those patients and their caregivers and not bringing them into clinical settings during this time. We've since restarted some of that effort. And, we used the time during that pause to make some important improvements as below, that we think will help advance the program more quickly as we reinitiate.

We are implementing changes that I believe will help to accelerate the clinical development of MMA, including the introduction of a new drug product with better pharmacology as well as a protocol revision to enhance operational performance and patient outreach. I am particularly proud of our team’s efforts to develop our next generation MMA candidate as well as to use feedback from sites, patients, families and caregivers to remain patient-focused and reduce patient burden in the study design.

In September 2020, we announced an exciting collaboration with Chiesi Group, an international research-focused healthcare group, aimed at the discovery and development of mRNA therapeutics for the treatment of PAH—a progressive rare disorder characterized by high blood pressure in the arteries of the lungs with concomitant right heart failure. This new relationship underscores our commitment to partner with companies that have unique disease expertise, and share our vision for the promise of mRNA therapeutics.

Additionally, we announced a new strategic research collaboration aiming to use our mRNA technology and Vertex’s expertise and investment in gene editing technology, to try to bring together an innovative treatment for CF—a rare, life-threatening genetic disease. The initial focus will be the discovery and optimization of novel lipid nanoparticles (LNPs) and mRNAs that can deliver gene-editing therapies to cells in the lungs.

This year, with the power of our wonderful people and great science, we are especially energized by the possibility of delivering on the promise of mRNA for patients in need. By working together, across our organization and industry, and with our partners and patients, I am optimistic about the opportunity before us to change rare diseases for the better for patients.

When considering next steps in rare disease, we're looking forward to the PA study with its new revised protocol to begin to dose patients. We’ll be next filing an investigational new drug (IND) application and a clinical trial application (CTA) for our MMA program, followed by GSD1a and PKU. Success in these diseases will not only help us develop further in them in particular, but also show us the principle that mRNA can deliver in rare disease. We have several new potential therapies for diseases on the horizon that would be interrogated for their biological promise and safety.

Team meeting Rare Disease Day

The Moderna team gathers from across the globe to “show their stripes” for Rare Disease Day.

On Rare Disease Day, we aim to raise awareness of rare diseases and their impact on patients’ lives. The rare disease community—patients, families, caregivers and advocates—are tremendous partners as we try to solve these rare diseases. We learn from their experiences and feedback, and continue to do what we can to bring progress and care. 

I’m proud of our Rare Disease team at Moderna and their commitment to this important research and development work. The efforts happening at Moderna and beyond our walls are exciting because they signify the potential of what we can achieve together in support of rare disease patients worldwide.

Today, we stand united with the rare disease community. The challenges we face together in rare diseases are significant, but we are so very inspired by you all, to continue to work as hard as possible to find solutions for patients who are in need, and waiting.

Forward-Looking Statement

This post contains forward-looking statements within the meaning of the Private Securities Litigation Reform Act of 1995, as amended, including statements regarding: the safety and efficacy of the Company’s vaccine against COVID-19; the potential for mRNA technology to address rare diseases; improvements to clinical development candidates, including for MMA; potential mRNA therapeutics for pulmonary arterial hypertension; the development of LNPs to facilitate the delivery of gene-editing therapies; dosing of patients for propionic acidemia candidates; and the status of INDs and CTAs for certain programs. In some cases, forward-looking statements can be identified by terminology such as “will,” “may,” “should,” “could,” “expects,” “intends,” “plans,” “aims,” “anticipates,” “believes,” “estimates,” “predicts,” “potential,” “continue,” or the negative of these terms or other comparable terminology, although not all forward-looking statements contain these words. The forward-looking statements in this statement are neither promises nor guarantees, and you should not place undue reliance on these forward-looking statements because they involve known and unknown risks, uncertainties, and other factors, which could cause actual results to differ materially from those expressed or implied by these forward-looking statements. These risks, uncertainties, and other factors those other risks and uncertainties described under the heading “Risk Factors” in Moderna’s Annual Report on Form 10-K for the year ended December 31, 2020, filed with the U.S. Securities and Exchange Commission (SEC) and in subsequent filings made by Moderna with the SEC, which are available on the SEC’s website at Except as required by law, Moderna disclaims any intention or responsibility for updating or revising any forward-looking statements contained in this annual report in the event of new information, future developments or otherwise. These forward-looking statements are based on Moderna’s current expectations and speak only as of the date hereof.