Health Secretary Robert F. Kennedy Jr. has added metachromatic leukodystrophy (MLD) and Duchenne muscular dystrophy to the federal government’s Recommended Uniform Screening Panel (RUSP), which outlines diseases for newborn screening in the United States.
The change could lead to increased demand for Libmeldy, a gene therapy for MLD sold by Kyowa Kirin through its subsidiary Orchard Therapeutics, according to a report from Jefferies analysts. The report notes that adding MLD to the RUSP "is likely to accelerate the adoption of MLD screening and boost demand for the gene therapy treatment, Libmeldy," with each treatment priced at $4.25 million.
Libmeldy received FDA approval in 2024, and sales began in the U.S. this year. Jefferies estimates that four patients will be treated in 2025, resulting in ¥2.1 billion ($13.3 million) in revenue. With more states expected to implement MLD screening due to its addition to RUSP—potentially at least 14 states covering over half of the U.S. population—the number of patients treated annually could rise to 40, which may increase annual sales by ¥18 billion ($114.3 million). Globally, Libmeldy's sales are projected at ¥6.9 billion ($43.8 million) this year.
MLD is a rare lysosomal storage disease affecting the nervous system, typically leading to death between ages five and eight if untreated. While Libmeldy does not eliminate all symptoms, early administration can extend survival and slow disease progression.
Orchard Therapeutics welcomed the recommendation to include MLD on RUSP but highlighted challenges ahead for widespread implementation at the state level due to funding issues. CEO Bobby Gaspar stated: "the addition of MLD to the RUSP is a monumental step toward enabling newborn screening in the U.S., implementation now must happen at the state-level, a historically multi-year process inhibited by the lack of adequate federal and state funding."
Debra Miller, founder and CEO of CureDuchenne, also responded positively: "We applaud HHS for this decision, which marks a breakthrough moment for our community," she said in a statement to BioSpace. "Early diagnosis offers families a critical window to access care and emerging treatments when they may be most effective."
Libmeldy remains the only FDA-approved treatment available for children with MLD and works by providing patients with a functional copy of the ARSA gene responsible for their condition.
At the time of Libmeldy's approval, Nicole Verdun, then-director of the Office of Therapeutic Products said: “This approval represents important progress in the advancement and availability of effective treatments, including gene therapies, for rare diseases.”
