Developers in rare disease emphasise cashflow and R&D expansion as evidence of their transition from emerging biotechs to established companies after strong performances in 2025.
Several rare disease biotechs hailed commercial successes in 2025 as marking a turning point in the sector’s maturation, despite lingering reliance on single lead assets and pressure to cut staff to remain financially stable. Even so, developers promised deepening pipelines and regulatory advancement in 2026 to attendees at the 2026 J.P. Morgan Healthcare conference in San Francisco, taking place from 12 to 15 January.
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2025 was a “breakout year” for siRNA biotech Alnylam Pharmaceuticals according to CEO Yvonne Greenstreet. The company secured FDA approval for its flagship asset Amvuttra (vutrisiran) in transthyretin-mediated amyloidosis with cardiomyopathy (ATTR-CM) in March and achieved nearly $3bn in combined sales throughout the year.
Greenstreet said Alnylam now projects sales as high as $5.3bn in 2026, noting as much as $4.7bn is expected to come solely from ATTR sales of Amvuttra and Onpattro (patisiran). During this year, she added the company expects four clinical readouts, three programmes advanced into Phase III, and three to four Investigational New Drug (IND) filings.
“It seems like everyone is doing rare disease drug development these days,” stated Emil Kakkis, CEO of Ultragenyx. The rare and ultra-rare disease biotech expects two approvals in 2026, Kakkis said — for gene therapies UX111 (rebisufligene etisparvovec) in Sanfilippo syndrome and DTX401 (pariglasgene brecaparvovec) in glycogen storage disease.
The FDA has notably made efforts to clear regulatory paths for rare disease developers in recent months, including by allowing for more adaptive clinical trials. In September 2025, the agency implemented the Rare Disease Evidence Principles (RDEP) framework to potentially approve therapies based on just one single-arm study. On 12 January 2026, the FDA also dropped certain manufacturing quality control requirements for cell and gene therapies (CGTs) in cases of unmet need.
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By GlobalDataHowever, Kakkis admitted Ultragenyx had met setbacks during 2025. In December, the company announced results for the Phase III Orbit (NCT05125809) and Cosmic (NCT05768854) trials of setrusumab in osteogenesis imperfecta, neither of which achieved their primary endpoint. This, along with a failed approval bid for UX111 in July, means Ultragenyx is now planning staff reductions, Kakkis added.
But financial outlooks are perhaps not as bleak across the sector as in previous years, with PTC’s CEO Matthew Klein reporting the biotech closed 2025 with $1.94bn in cash reserves. Like Alnylam, PTC’s sales remain largely centralised to its flagship asset, in this case its hyperphenylalaninemia therapy Sephience (sepiapterin), providing $588m of a total $823m in 2025 revenues.
PTC is therefore focussed on its continued global launch of Sephience through 2026, looking to launch in Japan and Brazil among other countries, in the hopes of reaching break-even cash flow this year. Concluding his presentation, Klein stated that over the last two years, PTC had transformed into a global biopharmaceutical company.
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