Rare diseases
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.
In a roundtable event on Thursday, HHS Secretary Robert F. Kennedy Jr. said his office will work to eliminate barriers that keep cell and gene therapies from the market.
The Platform Technology Designation, which predates the current FDA leadership, is designed to streamline the drug development and review process, particularly for rare diseases.
The FDA plans to “rapidly make available” rare disease drugs and make use of surrogate endpoints to get promising medicines to patients before they clear the traditional efficacy bar for authorization, Prasad said Tuesday.
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