WATERTOWN, Mass. — Disc Medicine, Inc. a clinical-stage biopharmaceutical company focused on the discovery, development, and commercialization of novel treatments for patients suffering from serious hematologic diseases, today announced the submission of a New Drug Application (NDA) to the U.S. Food and Drug Administration (FDA) for bitopertin for patients aged 12 years and older with erythropoietic protoporphyria (EPP), including X-linked protoporphyria (XLP). Disc submitted the NDA under the FDA’s accelerated approval pathway using reduction of protoporphyrin IX (PPIX) as a surrogate endpoint and requested a Priority Review based on bitopertin’s potential to address the significant unmet need for EPP patients. Bitopertin has received Orphan Drug Designation and Rare Pediatric Disease Designation from the FDA.
“This NDA submission represents a pivotal moment not just for Disc but for the EPP community as we seek to provide patients with a treatment option that has the potential to address the underlying cause of disease,” said John Quisel, J.D., Ph.D., Chief Executive Officer and President of Disc. “We look forward to working closely with regulators throughout the review process and remain focused on preparations for bitopertin’s anticipated launch. I want to express our gratitude to our dedicated investigators and the patients who participated in our clinical trials, and their families and caregivers who helped make this all possible.”
The NDA submission is supported by the results of the Phase 2 BEACON and AURORA studies in EPP, as well as prior data generated by Roche, including a safety database of over 4,000 clinical trial participants. The BEACON and AURORA studies demonstrated significant reductions in PPIX and improvements across key aspects of the disease, including improvements in light tolerance, reduction of phototoxic reactions, and improvements in quality of life. Disc is also studying bitopertin in a long-term extension study, HELIOS, and initiated the APOLLO confirmatory study in April 2025.
The NDA includes a request for Priority Review, which, if granted, would accelerate the timing of the FDA’s goal for review of the application to six months following the end of the 60-day filing review period rather than the standard 10-month review period. Priority Review status is designated for drugs that may offer a significant improvement in the safety or effectiveness of the treatment, diagnosis, or prevention of a serious condition.
About Bitopertin
Bitopertin is an investigational, clinical-stage, orally administered inhibitor of glycine transporter 1 (GlyT1) that is designed to modulate heme biosynthesis. GlyT1 is a membrane transporter expressed on developing red blood cells and is required to supply sufficient glycine for heme biosynthesis and support erythropoiesis. Disc is planning to develop bitopertin as a potential treatment for a range of hematologic diseases including erythropoietic porphyrias, where it has potential to be the first disease-modifying therapy. Bitopertin has been studied in multiple clinical trials in patients with EPP, including the Phase 2 open-label BEACON trial, the Phase 2 double-blind, placebo-controlled AURORA trial, an open-label extension HELIOS trial, and the confirmatory Phase 3 double-blind, placebo-controlled APOLLO trial.
Bitopertin is an investigational agent and is not approved for use as a therapy in any jurisdiction worldwide. Disc obtained global rights to bitopertin under a license agreement from Roche in May 2021.
About Erythropoietic Protoporphyria (EPP)
Erythropoietic protoporphyria (EPP), including X-linked Protoporphyria (XLP), is a rare, debilitating and potentially life-threatening disease caused by mutations that affect heme biosynthesis, resulting in the accumulation of a toxic, photoactive intermediate called protoporphyrin IX (PPIX). This causes severe reactions when patients are exposed to sunlight, characterized by excruciating pain, edema, burning sensations and potential blistering and disfigurement. PPIX also accumulates in the hepatobiliary system and can result in complications including gallstones, cholestasis, and liver damage in 20-30% of patients and in extreme cases liver failure. Current standard of care involves extreme measures to avoid sunlight, including restricting outdoor activities to nighttime, use of protective clothing and opaque shields, and pain management. This has a significant impact on the psychosocial development, quality of life, and daily activities of patients, particularly in young children and families. There is currently no cure for EPP and only one FDA-approved therapy, a surgically implanted synthetic hormone designed to stimulate melanin production called Scenesse® (afamelanotide).
About Disc Medicine
Disc Medicine (NASDAQ:IRON) is a clinical-stage biopharmaceutical company committed to discovering, developing, and commercializing novel treatments for patients who suffer from serious hematologic diseases. We are building a portfolio of innovative, potentially first-in-class therapeutic candidates that aim to address a wide spectrum of hematologic diseases by targeting fundamental biological pathways of red blood cell biology, specifically heme biosynthesis and iron homeostasis. For more information, please visit www.discmedicine.com.
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