Rare Disease Day is held every year on the last day of February, meaning every four years it falls on Leap Day. Rare Disease Day aims to raise awareness for the more than 300 million people globally that are living with a rare disease. The US definition of rare disease means that it impacts less than 200,000 people and there are currently more than 10,000 known rare diseases with more discovered every week and only about 5-10% of these have an approved treatment. This is a critical unmet need for patients and for many, clinical trials are their only treatment option.
The rare disease journey
If we refer to typical patient disease experiences as journeys, rare disease experiences are an odyssey. They are incredibly difficult to diagnose and it often takes 5-7 years from when individuals seek medical help until their official diagnosis. Raising awareness through events like Rare Disease Day will provide more exposure to healthcare providers and hopefully reduce diagnosis timelines for people suffering.
Once diagnosed, the treatment pathway can be long and full of false starts and the experience of a rare disease can be isolating in itself. Patient advocacy organisations (PAOs) are a key resource for people living with rare diseases and their families as they are a trusted source of information. PAOs are also an important forum for sharing experiences between patients and families as well as with doctors, hospitals and clinical trials to help advocate for the unique unmet needs of this community.
In their words: Laura-Jayne Turnbull, Project Associate
After months of testing and doctor’s visits to address my inability to retain fluids and vitamins that resulted in extremely blurry vision and unsteady gait, I was diagnosed with Wernicke’s Encephalopathy (WE). I developed WE after an operation – the chances of which were only 1.4%. The disease is primarily found and researched among long-term alcoholics in relation to the thiamine/B1 deficiency which causes eye nystagmus (rapid involuntary vertical and horizontal eye movements), ataxia (unsteady gait), and confusion.
The treatments did not sufficiently reduce my symptoms though it raised my thiamine levels. After visits to an orthoptist and ophthalmologist, a batch of tests including an electroretinogram, MRIs, and a lumbar puncture, the neurologist came up with a plan to try and slow my nerves with medication. Working at ICON shows me the importance of work in rare disease and helps bring us one step closer toward a better quality of life or an overall cure and can help prevent others from suffering the complications that I have faced.
In their words: Sophie Lim PMP, Project Manager II, Laboratory
My dad was diagnosed with Multiple System Atrophy (MSA) in 2019, making ‘rare disease’ a personal reality. MSA can present similarly to Parkinson’s disease, with tremors and stiffness, and it advances rapidly, stripping away physical abilities and identity while adding emotional strain for the affected person and their family.
Our family's routine was rewritten around his needs, doctor's appointments, and research on treatments that were frustratingly limited. It's a peculiar kind of pain to feel so helpless, to watch someone you love fade in slow motion, and it's a journey that countless families understand intimately. The ripple effect of his diagnosis was felt throughout our circle of friends and community. The isolation can be profound. Not many people know about these diseases, and that ignorance is its own kind of barrier. Many didn't know how to help or even understand what MSA was. We found ourselves explaining, educating, and sometimes, just trying to smile through the complexity and heartache.
Living with rare diseases requires a kind of courage that I never knew existed. My dad's journey has been a lesson in true resilience. It's about facing each day with hope, despite knowing what the disease may bring. And for me, it's been a realisation of the strength we possess as a family, the importance of community, and the critical need for awareness and research for rare diseases.
Beyond awareness: Leading Rare Disease development
ICON is leading the way in rare disease clinical development and is working to alleviate the challenges rare disease patients face. We have conducted 779 rare disease studies in the last five years, enrolling over 24,000 patients into clinical trials which provide both a means for developing new drugs and a treatment option for patients currently suffering from the disease. Rare disease trials differ from traditional trials and require additional design and operational considerations to reduce enrolment burdens, including the use of historical control arms instead of placebo controls.
ICON’s Centre for Rare Diseases (CfRD) team is a dedicated group of experts in this space, providing sponsors with collaborative support across the development lifecycle, from trial strategy and protocol design to global regulatory and patient advocacy strategies. We have participated in the pivotal studies that led to the original and/or supplemental market approval of 60 rare disease products and are dedicated to not only raising awareness for rare disease, but developing meaningful therapies for those most in need.
In this section
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Digital Disruption
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Clinical trial data anonymisation and data sharing
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Clinical Trial Tokenisation
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Closing the evidence gap: The value of digital health technologies in supporting drug reimbursement decisions
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Digital disruption in biopharma
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Disruptive Innovation
- Remote Patient Monitoring
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Personalising Digital Health
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The triad of trust: Navigating real-world healthcare data integration
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Patient Centricity
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Agile Clinical Monitoring
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Capturing the voice of the patient in clinical trials
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Charting the Managed Access Program Landscape
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Developing Nurse-Centric Medical Communications
- Diversity and inclusion in clinical trials
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Exploring the patient perspective from different angles
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Patient safety and pharmacovigilance
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A guide to safety data migrations
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Taking safety reporting to the next level with automation
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Outsourced Pharmacovigilance Affiliate Solution
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The evolution of the Pharmacovigilance System Master File: Benefits, challenges, and opportunities
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Sponsor and CRO pharmacovigilance and safety alliances
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Understanding the Periodic Benefit-Risk Evaluation Report
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A guide to safety data migrations
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Patient voice survey
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Patient Voice Survey - Decentralised and Hybrid Trials
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Reimagining Patient-Centricity with the Internet of Medical Things (IoMT)
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Using longitudinal qualitative research to capture the patient voice
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Agile Clinical Monitoring
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Regulatory Intelligence
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An innovative approach to rare disease clinical development
- EU Clinical Trials Regulation
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Using innovative tools and lean writing processes to accelerate regulatory document writing
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Current overview of data sharing within clinical trial transparency
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Global Agency Meetings: A collaborative approach to drug development
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Keeping the end in mind: key considerations for creating plain language summaries
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Navigating orphan drug development from early phase to marketing authorisation
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Procedural and regulatory know-how for China biotechs in the EU
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RACE for Children Act
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Early engagement and regulatory considerations for biotech
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Regulatory Intelligence Newsletter
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Requirements & strategy considerations within clinical trial transparency
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Spotlight on regulatory reforms in China
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Transfer of marketing authorisation
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An innovative approach to rare disease clinical development
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Therapeutics insights
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Glycomics
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Respiratory
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Rare and orphan diseases
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Advanced therapies for rare diseases
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Cross-border enrollment of rare disease patients
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Crossing the finish line: Why effective participation support strategy is critical to trial efficiency and success in rare diseases
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Diversity, equity and inclusion in rare disease clinical trials
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Identify and mitigate risks to rare disease clinical programmes
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Leveraging historical data for use in rare disease trials
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Natural history studies to improve drug development in rare diseases
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Patient Centricity in Orphan Drug Development
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The key to remarkable rare disease registries
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Therapeutic spotlight: Precision medicine considerations in rare diseases
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Advanced therapies for rare diseases
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Transforming Trials
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Accelerating biotech innovation from discovery to commercialisation
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Ensuring the validity of clinical outcomes assessment (COA) data: The value of rater training
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Linguistic validation of Clinical Outcomes Assessments
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Optimising biotech funding
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Best practices to increase engagement with medical and scientific poster content
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Decentralised clinical trials
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Biopharma perspective: the promise of decentralised models and diversity in clinical trials
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Decentralised and Hybrid clinical trials
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Practical considerations in transitioning to hybrid or decentralised clinical trials
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Navigating the regulatory labyrinth of technology in decentralised clinical trials
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Biopharma perspective: the promise of decentralised models and diversity in clinical trials
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eCOA implementation
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Implications of COVID-19 on statistical design and analyses of clinical studies
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Improving pharma R&D efficiency
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Increasing Complexity and Declining ROI in Drug Development
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Innovation in Clinical Trial Methodologies
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Risk Based Quality Management
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Transforming the R&D Model to Sustain Growth
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Accelerating biotech innovation from discovery to commercialisation
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Value Based Healthcare
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Strategies for commercialising oncology treatments for young adults
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US payers and PROs
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Accelerated early clinical manufacturing
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Cardiovascular Medical Devices
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CMS Part D Price Negotiations: Is your drug on the list?
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COVID-19 navigating global market access
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Ensuring scientific rigor in external control arms
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Evidence Synthesis: A solution to sparse evidence, heterogeneous studies, and disconnected networks
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Global Outcomes Benchmarking
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Health technology assessment
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Perspectives from US payers
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ICER’s impact on payer decision making
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Making Sense of the Biosimilars Market
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Medical communications in early phase product development
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Navigating the Challenges and Opportunities of Value Based Healthcare
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Payer Reliance on ICER and Perceptions on Value Based Pricing
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Payers Perspectives on Digital Therapeutics
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Precision Medicine
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RWE Generation Cross Sectional Studies and Medical Chart Review
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Survey results: How to engage healthcare decision-makers
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The affordability hurdle for gene therapies
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The Role of ICER as an HTA Organisation
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Strategies for commercialising oncology treatments for young adults
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