The landscape for rare disease treatments appears to be evolving rapidly, thanks to a confluence of regulatory momentum and a booming market forecast. Statements from key federal figures in recent months combined with market data suggest that a transformative moment may be approaching for cell and gene therapies targeting rare conditions.
Regulatory Winds Shift Toward Early Access
In his recent keynote address at a National Organization for Rare Disorders event,[i] newly appointed Food and Drug Administration (“FDA”) Center for Biologics Evaluation and Research (CBER)[ii] Director Vinayak “Vinay” Kashyap Prasad, M.D., M.P.H.[iii] pledged to make rare disease[iv] drugs rapidly available at the “first sign of promise.” Prasad indicated that the FDA[v] would leverage surrogate endpoints and real-world data to grant early, conditional access to experimental drugs.[vi] These comments are in line with recent remarks from FDA Commissioner Marty Makary[vii] outlining a future pathway for conditional approval of scientifically plausible rare disease drugs based on single-arm trials when randomized studies are infeasible.[viii] Health and Human Services[ix] Secretary Robert F. Kennedy Jr.[x] added further momentum for this emerging regulatory pathway during a recent FDA-hosted roundtable, where he pledged to eliminate barriers for bringing cell and gene therapies to market, “accelerating approvals for drugs and treatments that treat rare diseases.” [xi] Together, the FDA leadership appears poised to empower patients to access promising treatments faster while gathering post-market data to assess long-term effectiveness.
A Market on the Rise
Orphan drugs are medical products directed to preventing, diagnosing and treating rare disorders.[xii] Given the rarity of these disorders, historically there has been little incentive for the development and marketing of these products for a small number of patients under normal market conditions. However, due in part to an increasing prevalence of rare diseases and rapid advances in cell and gene therapies along with favorable regulatory frameworks like the Orphan Drug Act[xiii], which provided economic incentives[xiv] such as grants, research design support, FDA fee waivers, tax incentives, and orphan drug market exclusivity, the orphan drug market is currently valued at about $216 billion USD.[xv] The market is expected to continue to grow at a compound annual growth rate (CAGR) of between about 10-12%, reaching valuation in excess of $500 billion by 2032.[xvi]
Implications for Developers and Patients
This confluence of momentum to reform some regulatory hurdles at the FDA together with a positive market forecast signals a pivotal time for drug developers in the rare disease space. While it remains to be seen how the FDA will streamline the process for regulatory approval, the promised conditional approvals combined with expanded post-market surveillance may soon redefine how novel rare-disease therapies reach patients.
At least based on statements from the current FDA leadership, the era of waiting for conclusive data before treating rare conditions may be shifting to a model of timely intervention and collaborative learning. For the rare disease community, that shift may make all the difference.
Edited by: Brenden S. Gingrich, Ph.D.
[i] See https://endpoints.news/fdas-vinay-prasad-says-he-will-rapidly-push-forward-rare-disease-advances/; see also https://www.biospace.com/fda/fdas-prasad-vows-to-make-rare-disease-drugs-available-at-first-sign-of-promise?
[ii] See https://www.fda.gov/about-fda/fda-organization/center-biologics-evaluation-and-research-cber
[iii] See https://www.fda.gov/about-fda/fda-organization/vinayak-prasad
[iv] See https://rarediseases.org/
[vi] See https://www.biospace.com/fda/fdas-prasad-vows-to-make-rare-disease-drugs-available-at-first-sign-of-promise?
[vii] See https://www.fda.gov/about-fda/fda-organization/martin-makary
[viii] See https://www.youtube.com/watch?app=desktop&v=-ZKkXlFR8FQ
[x] See https://www.hhs.gov/about/leadership/robert-kennedy.html
[xi] See https://www.fda.gov/vaccines-blood-biologics/workshops-meetings-conferences-biologics/cell-and-gene-therapy-roundtable-06052025
[xii] See https://www.cancer.gov/publications/dictionaries/cancer-terms/def/orphan-drug
[xiii] See https://www.fda.gov/industry/designating-orphan-product-drugs-and-biological-products/orphan-drug-act-relevant-excerpts
[xiv] See Seoane-Vazquez E, Rodriguez-Monguio R, Szeinbach SL, Visaria J. Incentives for orphan drug research and development in the United States. Orphanet J Rare Dis. 2008 Dec 16;3:33. doi: 10.1186/1750-1172-3-33. PMID: 19087348; PMCID: PMC2631478.
[xv] See https://www.towardshealthcare.com/insights/orphan-drug-market-sizing: The global orphan drug market between 2025 and 2034.; see also https://www.biospace.com/press-releases/orphan-drugs-market-size-to-reach-usd-541-3-billion-by-2032-impelled-by-the-increasing-prevalence-of-rare-diseases
[xvi] See id.
