Rare and orphan diseases
Unique challenges and complexities of rare and orphan disease clinical trials explored.
Using data from externally controlled trials in rare disease clinical development
External controls are most frequently leveraged in situations where conducting prospective randomized, controlled studies is not feasible; examples include products approved for rare, life-threatening, or severely debilitating conditions, in some cases slowly progressing, with no/inadequate available therapy. This briefing document describes external control arms and provides concise information on the FDA’s regulatory precedent regarding their acceptable use.
Read the briefingBeyond buzzwords: Diversity, equity and inclusion in rare disease clinical trials
The rarity of each individual rare disease introduces many unique challenges and complexity in clinical research including barriers to achieving representative trial populations and equitable access to trials.
Read the whitepaperNavigating orphan drug development from early phase to marketing authorisation
In this white paper, ICON’s experts discuss the intricacies of orphan drug development and the challenges that both the US and EU experience, including the EU concept of significant benefit criterion.
Read the whitepaperCrossing the finish line: Why effective participation support strategy is critical to trial efficiency and success in rare diseases
Rare disease clinical trials face unique challenges, such as the low prevalence of disease and few qualified investigators, resulting in higher risks to clinical development programmes for sponsors.
Read the whitepaperThe key to remarkable rare disease registries
ICON’s experts present best practices for sponsors and patient advocacy organisations interested in working together to design and implement patient registries.
Read the whitepaperCross-border enrollment of rare disease patients
The patient pool for rare disease clinical trials is often small and widely dispersed. Likewise, clinical sites with specialised experience are rare. These issues can be mitigated by enrolling patients who are not residents of the country where the trial is being conducted.
Read the whitepaperNatural history studies to improve drug development in rare diseases
Rare disease drug development is challenging due to limited info on patient distribution, change in disease progression and relevant outcomes to define treatment benefits.
Read the whitepaperUnlocking the potential of advanced therapies developed for rare diseases
Development of advanced therapies for rare diseases requires a customised regulatory strategy. Discover an approach and interaction plan that sponsors can follow across all phases of development to accelerate time to market.
Read the whitepaperICON supports World Rare Disease Day
ICON is joining other healthcare & patient organisations to raise awareness of rare diseases on World Rare Disease Day.
Download the infographicParticipant-focused tools designed to improve study success in rare disease clinical trials
There is a recognised a gap in the availability of structured tools to help sponsors operationalise patient-centricity and identify and mitigate risks in rare disease clinical development.
Learn moreLeveraging historical data for use in rare disease trials
Rare disease clinical trials have several challenges that make them more difficult to conduct than clinical trials for more common diseases. Small patient populations, pediatric populations and the desire by patients and their caregivers to receive active therapy while on a clinical trial make it much more likely that these trials will need to incorporate historical data into the design.
Read the whitepaperPatient centricity in orphan drug development
ICON analysed data on the use of patient-reported outcomes measures (PROMs) in orphan drug labeling claims and performed an extensive literature review on the use of PROMs in all phases of clinical research, observational/registry studies, and instrument development and validation. The findings and recommendations can be found in this whitepaper.
Read the whitepaperRare and orphan diseases blogs
Making rare disease clinical trials more human: Patient-centric best practices for improved diversity
In this blog, we share best practices for a more patient-centric approach to trials as discussed in our webinar to improve accessibility, inclusion and diversity.
Rare diseases and orphan drugs regulatory framework in Canada: Recent initiatives by Government of Canada
This blog details initiatives that are being taken by the Government of Canada and various organizations like Canadian Organization for Rare Disorders to promote a health care system that works for those with rare disorders.
A rare partnership: Collaborating with patient advocacy organisations for rare disease registries
Rare disease registries: practical ways to build trust and collaboration with patient advocacy groups.
Advanced therapies for rare disease - a regulatory roadmap
Navigating advanced therapy development for rare diseases is challenging from many perspectives and requires a customised development strategy.
Clinical development challenges faced by advanced therapies for rare disease
Advanced therapies are a class of products based on genes, tissues or cells used to treat or deliver treatment to patients.
Rare disease patients and advocates drive change in public policy
Learn how patients and advocates are key to driving legislative changes in rare disease research.
Effective patient recruitment for rare disease research
With 350 million people affected worldwide, rare diseases represent a major unmet medical need.
Accelerating drug development for patients with rare dseases
There are over 7,000 rare diseases which affect a small number of patients worldwide.
The importance of the patient voice in the rare disease market
Orphan drugs, by nature, remain commercially underdeveloped, and as demand in the market increases, patients in clinical trials need to be considered.
The rare disease revolution
Emerging research approaches and real-world evidence are fulfilling critical patient needs faster.
Four challenges to successful rare disease drug development
Developing drugs for rare diseases involves complexities beyond those typically seen in large trials for more common conditions.
Rare & Orphan Diseases media contributions
Accessibility in rare disease paediatric clinical trials
In this International Pharmaceutical Industry article, ICON experts Kirsten Sherman Cervati and William C. Maier discuss strategies to make clinical trials more accessible for Paediatric patients and their families.
The human condition
In this article, Patricia Murphy discusses how the industry needs to make rare disease clinical trials more human.
Making accessibility strategy part of your rare disease trial planning
In this article, Laura Iliescu, director of patient advocacy strategy at ICON Plc, discusses strategies to improve inclusion of people with disabilities in rare disease trials.
Strategies for building greater DE&I in Rare Disease trials
This article describes some of the systemic factors that produce barriers at various stages of the rare disease drug development process, as well as identifies strategies to improve diversity in these trials.
Historical Controls in Rare Disease drug development: Using RWE to overcome key challenges
The following article will explore the advantages of using HCs, as well as several considerations for their effective use, including scientific methodology and regulatory guidance.
The power of partnership: Collaborating with patient advocacy organisations for better clinical research
Laura Iliescu explores the powerful potential of collaboration with PAOs for clinical trials, particularly how PAOs can inform trial design and the creation of patient registries.
Inclusive approaches to diversity and inclusion. How can we move from awareness to action?
Devra Densmore discusses the importance of DEI in rare disease clinical trials and shares actionable points for a more inclusive approach.
Rare disease drug development - real world evidence innovations with historical controls
Will Maier outlines the importance of utilising real world evidence from rare diseases in accelerating product approval and development.
Using RWE in rare disease drug development: effective innovations with historical controls
With a growing number of therapies under development for rare diseases, William Maier discusses how real-world evidence can be effectively used as a historical control, overcoming challenges presented in clinical development.
How real world evidence is impacting rare disease drug development
Will Maier, VP of Rare Diseases, shares how a more patient-focused approach to trials is leading to alternatives for randomisation.
Rare disease clinical trials call for intelligent design
Will Maier offers expert advice on planning and executing clinical studies with the unique needs of rare disease patients in mind.
Real world evidence and the patient experience: Involving rare disease patients for successful trials
William C Maier and Maggie Adamski consider how RWE can support those suffering with rare diseases around the world.
Patient centricity is vital to advancing rare disease treatments
Benoit Arnould, Director of Patient Centred Outcomes, discusses how putting the patient first in clinical research is essential to discovering new therapies for orphan diseases.
Using historical controls for rare disease trials
Rare disease clinical trials have several challenges that make them more difficult to conduct than clinical trials for more common diseases. (PDF)
An overview on rare disease research
Examine the key clinical, regulatory, and commercial challenges associated with the development of therapies for the treatment of rare diseases. (PDF)
Rare disease trials Q&A
Rare diseases are usually genetic and therefore chronic, and the lack of natural history data poses several key challenges in the development of new therapies.
Patient voices in the industry
Orphan drugs, by nature, remain commercially underdeveloped, and as demand in the market increases, patients in clinical trials need to be considered. (PDF)
Intricacies of precision medicine for biotechs
Project teams need to be challenged constantly to justify the study procedures and eligibility criteria they are proposing.
Applying RWE to rare disease drug development
Real-world data studies play a key role in orphan and rare disease research. (PDF)
A look at cost challenges of precision medicine and rare disease
Precision medicine can have an immense impact for patient outcomes in rare diseases and other therapeutic areas. (PDF)
Rare and orphan diseases on-demand webinars
Diversity, Equity and Inclusion in Rare Disease Clinical Trials: Beyond Buzzwords
The rarity of each individual rare disease introduces many unique challenges and complexity in clinical research including barriers to achieving representative trial populations and equitable access to trials.
Tools of the trade for patient-centric clinical development
Learn how the freely available Patient-Centric Trial Development Toolkit for rare diseases provides a framework for systematically and iteratively incorporating patient perspective from earliest stage of development and throughout the drug development lifecycle for any rare disease clinical program.
Rare diseases: Natural history studies for drug development
Receive guidance on the design and conduct of rare disease natural history studies including practical strategies for patient identification, recruitment and retention.
Using historical controls in rare disease clinical trials
The challenges and opportunities for rare disease drug development.
Engagement and retention of patients in rare and orphan disease clinical trials
Address the major challenges of patient engagement and retention during the study.
The rare disease revolution
Real world evidence is expected to play a major role in the approval of future new medicines.
Receive more insights on rare and orphan diseases from ICON
Please visit ICON's Preference Centre and select 'rare diseases' under 'Therapeutic Areas of Interest' to receive new insights on rare and orphans diseases.
Receive new insightsRare and orphan diseases videos
Rare and orphan diseases services
ICON is an experienced partner who can assist sponsors in navigating the many challenges of orphan drug development. ICON can help sponsors optimise the whole continuum of the clinical trial lifecycle from patient enrolment to payer reimbursement with its powerful solutions and proven strategies. ICON’s highly experienced clinical and therapeutic teams have conducted numerous rare disease trials across a wide range of therapeutic areas.
Read more about ICON's services in rare diseases