ICON can help you navigate the clinical development challenges in rare and orphan diseases

We understand the unique challenges rare disease patients face generally and in clinical research studies, compared to those in more common indications. Lives are uprooted and postponed in search of treatment, not just the lives of patients but their entire care circles. We understand that every day without treatment means another day filled with doctors' appointments, lab work, postponed opportunities, and cancelled plans.

By maintaining focus on the patient, their family, and their quality of life, we can anticipate and mitigate risks, and efficiently conduct rare disease studies. We understand the critical success factors necessary to conduct rare disease studies, and we have the experience to back it up.


  • 730+

    Rare disease studies
  • 88,400+

    Patients enrolled
  • 28,800+

    Sites worldwide

ICON provides deep expertise on patient recruitment and retention, which are especially challenging for diseases characterised by small patient populations and fewer specialised study sites. Our experts can also guide and advise on study design, targeted patient enrolment, data management and analysis, visualisation of large real-world datasets, complex regulatory issues, and pricing, market access and reimbursement challenges.

Our team has built mutually beneficial relationships with patients and patient advocacy groups to ensure your study has the best chance of success. We work with you to ensure you have a feasible study strategy that will contribute to commercial success, built from real patient insights and data.

Our medical informatics allow us to qualify and quantify rare disease patients and treating physicians through public and private data sources. We use industry-leading third-party data sources and claims, pharmacy, specialty lab, and diagnostic data, and electronic health records. We also examine the competitive landscape and investigator performance. This evidence-based methodology, combined with our core set of study-branded tools, helps sponsors identify sites and sites to identify potential patients.

Integrated expertise and support

A well-designed rare disease clinical trial involves unique regulatory, scientific, and operational considerations. To meet this need, we’ve established the Gene Therapy Working Group: a multidisciplinary team of dedicated professionals including experts in regulatory affairs, scientific affairs, study start-up, patient strategy, real world solutions, mobile health, medical affairs, clinical pharmacology, and clinical delivery. This group provides guidance and support to all phases of advanced therapy clinical trials in the rare disease space, including, but not limited to:

  • Assessment of appropriate technology-based solutions (i.e., wearables, virtual study visits, etc.)
  • Integration of evolving global regulatory landscapes
  • Analysis of competitive landscapes
  • Patient journey and patient pathway analyses
  • Training for research sites and operational teams
  • Protocol refinements

We incorporate the patient perspective into all we do because our work is foremost for the patient. We’ve built partnerships with relevant patient advocacy groups to create stronger study awareness and support, and we practice social listening and conduct patient-focused feasibility and focus groups to better understand what patients want. Our recruitment and retention strategies include the voice of patients and their caregivers during study design and throughout the entire product development lifecycle.

Rare and orphan diseases insights

ICON's Rare and Orphan Diseases team provides analysis including whitepapers, blogs and contributions to media and industry conversations relating to all aspects of rare and orphan diseases in clinical trials.

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