Commercializing a rare disease therapy is both a meaningful opportunity to change the future for underserved patients—with 95% of rare diseases lacking an FDA-approved therapy¹—and a high-risk, high-reward investment for pharmaceutical manufacturers.
The rare patient population is small by definition, clinical trial infrastructure is often limited, the regulatory path can be unforgiving, and the tension between success and failure continues long after FDA approval.
Capturing opportunity requires more than scientific innovation. It depends on how effectively manufacturers and their partners help patients access therapy, navigate complexity, and remain supported throughout the treatment journey. Designing around the patient is not separate from protecting value—it is how manufacturers reduce avoidable risks and help ensure that the full clinical and long-term value of a therapy can be realized.
Rare disease patients live with ongoing risks
On average, rare disease patients are misdiagnosed three times and see five physicians before receiving the correct diagnosis2. For one family, that meant losing a child before they knew the name of the disease and carrying a subsequent pregnancy with both hope and uncertainty. When their baby was born, he required an immediate, coordinated intervention to begin therapy without delay.
Even with an approved treatment available, the risks did not disappear. As the family prepared to leave the hospital, they faced a new, equally urgent fear: whether access to life-sustaining therapy would continue beyond the inpatient setting. After weeks of negotiations, their insurance company approved in-home access. Yet this experience underscores the common reality of long diagnostic pathways and complex prior authorization (PA) requirements for people living with rare diseases.
Risk thrives in fragmentation
Rare disease care relies on careful orchestration of many interdependent stakeholders. Scale-based pharmacy models often distribute coordination across disconnected teams and systems, increasing the likelihood of delays, miscommunication, and patient drop-off. When coordination breaks down, fragmentation redistributes the burden to those least equipped to manage—usually patients and their caregivers.
Insights from a 2026 PANTHERx® Rare and Morning Consult survey capturing the real-world experience of rare disease patients supported by a dozen specialty pharmacies (SPs) reinforce this reality. Among rare disease stakeholders, 68% reported waiting for updates at critical moments of care.3
When that coordination isn’t happening, its absence is felt quickly. Industry data show that only 61% of specialty prescriptions are approved and filled. Among those who started, the majority didn’t remain on treatment after a year.4 As these data show, many patients fall through the cracks.
Rare Pharmacy can help reduce manufacturers’ risks
When confronted with the risks of rare disease commercialization, some manufacturers rely on large, traditional SPs with experience dispensing thousands of therapies. However, models built for scale aren’t equipped for the realities of rare diseases, where precision is paramount.
Complex dosing regimens, safety monitoring, limited prescriber experience, intricate payer requirements, and intensive patient support leave little margin for error. With the FDA planning new pathways to potentially move therapies toward approval faster, improved outcomes hinge on thoughtful program design and ongoing adaptation to the lived experience of rare disease patients.
Rare Pharmacy—defined as an SP specifically built for rare diseases—is designed to actively manage variability and risk at the individual patient level, with:
- Real-time visibility to enable early identification of friction points and support rapid interventions
- Adaptive workflows that evolve with individual patient, prescriber, and payer needs
- End-to-end coordination by a dedicated team
- Individualized engagement and care for every single patient, and
- Dedicated partnership with the manufacturer to continuously monitor and adapt programs to maximize patient outcomes and satisfaction.
With coordination intentionally embedded into the care model, the patient experience becomes more satisfying, predictable, and sustainable. We measure the impact operationally and clinically. For example, 95% of PANTHERx patients report having no unresolved medication-related barriers during annual assessment.5
Risks evolve from launch through lifecycle management
Risks during drug development do not disappear at FDA approval; they simply evolve. Real-world performance must continuously validate the clinical promise and health economic benefits that earned approval and coverage in the first place.
Manufacturers who invest in the right partnerships, data infrastructure, access discussions, and patient engagement plans well before launch can proactively mitigate the risks in rare disease launches. And an experienced Rare Pharmacy like PANTHERx can help identify and manage both expected and unexpected risks during each phase of a therapy’s life cycle.
Endnotes
1 National Center for Advancing Translational Sciences (NCATS), NIH. Rare Diseases Fact Sheet. 2023.
2 “Moving Past Misdiagnosis: The Value of a Genetic Evaluation,” SequenceMD, 2023.
3 “The State of Rare Disease Care: Stakeholders Identify a Clear Path to Faster, More Personalized Care,” PANTHERx Rare and Morning Consult, February 2026.
4 “Half of Novel Specialty Prescriptions Go Unfilled,” Specialty Pharmacy Continuum, April 10, 2025 (coverage of IQVIA data presented at the NASP 2025 Annual Meeting).
5 PANTHERx Rare, Program Evaluation Report, 2025 (internal data on patient outcomes and access barriers).