Rare diseases

President Donald Trump’s One Big Beautiful Bill, signed into law last week, reintroduces broader exemptions for orphan drugs from the IRA’s drug price negotiation program—a move welcomed by the biopharma industry. The new tax law also cuts Medicaid funding, posing a minimal risk to pharma’s bottomlines and potentially jeopardizing hospitals’ 340B status. It does not, however, include new rules for pharmacy benefit managers that had been in an earlier draft.

After a season of regulatory upheaval, obesity and rare genetic diseases will likely remain major themes for biopharma in 2025, according to Jefferies.

The pivotal trial for Neurogene’s Rett syndrome gene therapy makes use of baseline controls and a rigorous endpoint that could help ensure a broader label for the drug product, if approved, according to analysts.

Changing how biopharmas package their products, how regulators review new drugs and how mutated genes are fixed could make ultrarare disease treatments possible.

Isaralgagene civaparvovec is a “potential best-in-class gene therapy for Fabry disease,” according to analysts at H.C. Wainwright. Sangamo plans to use pivotal Phase I/II data to build an accelerated approval case for the asset.

Speaking at BIO2025, rare disease leaders from Ultragenyx, Amylyx and Yale questioned the need for the new regulatory pathway proposed by FDA Commissioner Marty Makary. They acknowledged, however, that creative thinking is required to enable more treatments for patients with ultrarare diseases.

The Inflation Reduction Act includes an exemption for orphan drugs for a single indication, but experts say this is far from sufficient to maintain momentum in the rare disease space.

Harliku is the only FDA-approved drug for alkaptonuria, a rare condition characterized by skin discoloration, arthritis and heightened risks of heart failure and stroke.

The new version of the bill will still need to go through the entire House and Senate.

Empaveli reduced proteinuria by 68% versus placebo in glomerulopathy and glomerulonephritis, an effect that was sustained through one year of follow-up.