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29 February 2024

Celebrating Rare Disease on the Rarest Day

by Kyle Holen, MD, SVP and Head of Development, Oncology and Therapeutics, Moderna

Today, on the rarest day, February 29, we join the rare disease community in the annual celebration of Rare Disease Day to reflect on the progress we’ve made to date as we look ahead to the work we still need to do to. Celebrated in more than 100 countries, Rare Disease Day aims to raise awareness and generate change for the 300 million people worldwide living with a rare disease, their families and caregivers.¹

Moderna’s mission is to deliver the greatest possible impact to people through mRNA medicines. We believe in the promise of mRNA to improve the well-being for those affected by rare diseases. Our mRNA pipeline includes seven rare disease intercellular therapeutic candidates.

Our rare disease portfolio, which includes therapies targeting methylmalonic acidemia (MMA), propionic acidemia (PA), glycogen storage disease (GSD1a), phenylketonuria (PKU), ornithine transcarbamylase deficiency (OTC), cystic fibrosis (CF), and Crigler-Najjar Syndrome Type 1 (CN-1) continues to show promise.

The Phase 1/2 trial for our MMA therapeutic candidate has dosed 11 participants with a total of 221 doses administered and all participants have opted into the Open-Label Extension study.² A global Phase 1/2 trial for our PA therapeutic candidate, our most advanced rare disease program, is enrolling patients in the dose confirmation arm, and again, almost all the patients who have completed the treatment period of the main study have opted to enter a long-term extension study. We expect to advance our MMA and PA programs into pivotal studies in 2024.

Enrollment is on-going for our Phase 1/2 clinical trial of our mRNA therapeutic to address GSD1a. Looking ahead, we will continue to evaluate the safety of this therapeutic candidate and lipid nanoparticle 2 (LNP2) and we will identify a dose to move forward to a repeat dose study. Our PKU and OTC candidates are in pre-clinical development, and we look forward to sharing data when available.

We are collaborating with the Institute for Life Changing Medicines to develop an mRNA therapeutic for CN-1, an ultra-rare disease in which the body cannot break down bilirubin, a substance made by the liver. Ultra-rare diseases are typically a challenge for our industry given the small number of patients who could benefit from the medicine. With this innovative partnership, once this candidate is thoroughly studied, our ultimate goal is to make an mRNA therapy for the treatment of CN-1 available at no cost to patients and their families. Another partnership is with colleagues at Vertex, the world’s leader in cystic fibrosis medicines, on an inhaled mRNA designed with the goal of helping produce CFTR directly in the target organ most affected by the disease. The first patients have been dosed and we are looking forward to further clinical evaluation.

At Moderna, we are incredibly inspired by the stories we have heard from the people who are affected by rare diseases, including families and patient organizations. Patients are at the center of everything we do, and we believe that our innovative mRNA science coupled with our commitment to working with patient communities could change how medicines for rare diseases may be delivered in the future.

One of these patients is Jordan, who was diagnosed with glycogen storage disease (GSD1a) when she was seven months old. GSD1a is a rare inherited metabolic disease resulting from a deficiency in the metabolism of glucose.³ To fulfill the need for glucose, Jordan drinks cornstarch as treatment every three hours during the day and every four hours at night. Jordan loves playing softball and swimming and is interested in marine biology. We are enrolling in our clinical trial for GSD1a with the hope of one day bringing better health to patients like Jordan and so many others affected by rare diseases.

The rare disease community—patients, families, caregivers and advocates—are tremendous partners and we are grateful for their openness in sharing their experiences and feedback.

We are incredibly thankful for the participants in our studies and the clinical trial teams working relentlessly to help advance our mRNA research. The efforts happening at Moderna and beyond our walls demonstrate the potential of what we can achieve together to help people with rare diseases.

We are guided by our unwavering belief that our mRNA platform can solve the world’s greatest health challenges—from diseases impacting millions to medicines individualized down to a single patient. While we are encouraged by our progress to date, we know that there is much work to be done, and we will continue our journey to deliver the greatest possible impact with our mRNA medicines.