Developing IQVIA’s positions on key trends in the pharma and life sciences industries, with a focus on EMEA.
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Developing IQVIA’s positions on key trends in the pharma and life sciences industries, with a focus on EMEA.
Learn more
Developing IQVIA’s positions on key trends in the pharma and life sciences industries, with a focus on EMEA.
Learn more
Developing IQVIA’s positions on key trends in the pharma and life sciences industries, with a focus on EMEA.
Learn more
Utilising the extensive range of data assets exclusively available to IQVIA, combined with our market leading expertise, we are able to support the NHS meet the challenge of delivering high quality, efficient and cost effective healthcare by identifying actionable insight and realising the value in data.
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IQVIA’s Pharmacy Communications offers pharma companies a simple and cost-effective channel to communicate product changes, updates and patient advice directly to patients via pharmacists.
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Launching a rare disease product into the UK market presents several significant challenges. The small patient populations inherent to rare diseases can make recruitment into clinical trials difficult, leading to limited clinical evidence at the time of market entry1. There is also a low awareness about rare diseases in the general population and health care system, with only a few clinicians with the expertise to treat these conditions. These challenges underscore the need for robust real world evidence (RWE) studies to understand the effectiveness and safety of |
treatments post-launch in an underserved patient population filling the gaps left by traditional clinical trials2.
There are typically two main types of RWE studies: secondary database studies and primary data collection studies (PDCs). Secondary database studies utilise existing data held in structured format such as medical claims databases, and patient registries to analyse treatment outcomes and patterns of care3. In a previously published blog, a database study focused on sickle cell disease was highlighted4. This year, the blog will spotlight PDCs looking at the challenges and solutions to implementing PDCs in rare diseases, and how these challenges can be overcome in order to deliver robust RWE to fill in evidence gaps and support the delivery of new and innovative drugs to often underserved patient groups.
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PDCs involve the collection of original data directly from primary sources using observational research methods including surveys, interviews, clinical assessments, or medical records5. In these studies, data can be collected prospectively, retrospectively, or both, into a bespoke registry or study dataset. In the context of rare diseases, where disease prevalence is low, and existing knowledge is often limited, PDC studies are crucial in generating real world evidence from these unique populations. Patient registries are often |
beneficial sources of real world data on the natural history of rare diseases and facilitate the understanding of standard of care practices in routine clinical settings6.
Rare disease research often faces significant challenges primarily due to small patient populations and a scarcity of information in secondary databases. Additionally, rare diseases are often geographically dispersed, and vary in clinical presentation, disease severity or progression making it difficult to define endpoints or adequately capture disease trajectories7. These instances underscore the need for PDCs to specifically address these and other rare disease nuances. PDCs can be designed to collect first-hand, targeted, and high-quality data including patient-reported outcomes, thereby circumventing the limitations of pre-existing datasets. However, setting up a PDC study in a rare disease requires strategic thinking and careful planning to account for low patient numbers and other significant considerations such as dispersed locations, and variations in disease presentation within a specific rare disease.
As Real world data (RWD) often comes from diverse sources such as patient registries, and electronic health records, the diversity can lead to inconsistencies and variability in the data, affecting the reliability of study outcomes8. In secondary database studies this is a known and acknowledged limitation and before conducting a study an assessment is carried out to determine if these data sets are fit for purpose to answer the research question.
PDC study designs are usually flexible and pragmatic to allow for the capturing of high-quality data from various sources that truly reflect these unique patient populations and any variations in routine clinical care. Commonly used study designs in PDC studies include retrospective or prospective observational cohort studies and cross-sectional studies. Prospective study designs allow for the collection of bespoke data which improves data quality. In some rare diseases, patient symptom diaries are completed daily in order to gain deeper insights. In cross sectional studies, careful planning and using standardised data collection tools that incorporate logical checks will reduce missing or inconsistent data points. Source data verification, remote or in-person monitoring by highly experienced IQVIA site managers also contributes to high data quality in PDCs. Another major hurdle to conducting robust clinical studies in rare disease is lack of standardised endpoints. This is due to a poor understanding of the natural history of the disease, and the absence of well-established endpoints associated with many rare diseases, making the measurement of treatment response challenging. As discussed in an IQVIA white paper, it is challenging balancing clinically measurable endpoints with increasingly important patient relevant endpoints in rare disease9. This makes the engagement of key opinion leaders particularly critical, in designing a rare disease study to ensure that endpoints identified are highly relevant and measurable and can inform future clinical research. In rare diseases, where expertise in managing the disease may be limited, extensive training and carefully defined Standard Operating Procedures and coordination are often required9.
Real world data can be subject to various biases and confounding, such as selection bias and information bias. These biases need to be carefully managed to ensure the validity of the study findings.
At IQVIA, we recognise these challenges and ensure standardised data collection tools and protocols across study sites to minimise information or misclassification bias. Eligibility criteria is usually clearly defined to ensure a homogenous study population and potentially reduce selection bias. To minimise confounding, detailed information is collected on potential confounders to allow for adjustment in the analyses using regression or stratification methods.
Rare diseases have small patient populations, which amplifies the challenges in recruiting participants for PDCs and finding suitable research sites with optimal resources, compounded by the geographical dispersion of the patients. Consequently, it becomes difficult to gather a large enough sample size for statistically significant results10.
In order to address this in the United Kingdom (UK), IQVIA leverages its long-standing partnerships with the National Health Service (NHS) by facilitating muti-centre collaborations. IQVIA works closely with several NHS trusts, National Institute for Health and Care Research (NIHR) and healthcare providers to identify patients. Robust bespoke feasibility studies prior to the commencement of data collection also ensure we maximise the data sources and identify suitable sites and investigators and work with them to identify patient populations. In addition to our collaboration with NHS, IQVIA’s prime site network exemplifies a long-term strategic collaboration with hospitals for the advancement of global multi-site clinical research.
Finally, innovative patient recruitment methods, such as digital engagement platforms and national reaching home care schemes spanning over the entire country, with diverse geographical spread can maximise the potential patient cohort. By combining these novel approaches with a deep understanding of patient care pathways and local access, IQVIA can include patients even beyond routine NHS care. This targeted strategy results in significantly higher recruitment rates.
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Conducting studies in rare disease populations requires careful ethical consideration, especially when dealing with vulnerable populations like paediatric patients or adults lacking mental capacity. Ensuring accessible and proportionate informed consent processes are implemented and promoting diversity and inclusion are crucial. Alongside this, these patients and their families can face considerable physical, psychological, and social challenges. The burden of managing a rare disease can be |
overwhelming, involving frequent medical appointments, complex treatment regimens, and significant financial costs. This burden can impact the quality of data collected, as patients may be less able to participate consistently in studies, contributing to the additional burden.
Patients and public involvement and engagement (PPIE) is crucial for rare disease research. It provides valuable insights, helps co-design trials, and enhances recruitment and retention. PPIE ensures ethical considerations are addressed from the outset, leading to more ethical and patient-centred research. Additionally, it fosters transparency and trust between researchers and the rare disease community, significantly boosting recruitment and improving study outcomes.
Ethics experts at IQVIA ensure that our studies are designed with a patient-centric approach, minimising patient burden while upholding the highest ethical standards. For example, incorporating remote consenting processes and remote follow-ups whenever possible. The informed consent process is also tailored to meet the specific needs of patients, their families, and caregivers, which is particularly significant as patients may have limited knowledge of their condition. Additionally, all studies undergo thorough ethical review by Research Ethics Committees within the Health Research Authority in the UK11.
The need for robust real world evidence (RWE) studies to understand the underserved patient populations that could be helped by new treatments and also to support the efficacy and safety of treatments post-launch is evident and PDCs are crucial in rare diseases due to limited existing knowledge and dispersed patient populations. By addressing these challenges head-on, IQVIA is committed to advancing rare disease research and improving patient outcomes through innovative and ethically sound methodologies.
References
1. Pharmaphorum. The biggest challenges facing rare disease pharma – and how the industry can tackle them https://pharmaphorum.com/r-d/views-analysis-r-d/biggest-challenges-rare-disease.
2. Craig Bradley. What are the opportunities and challenges in the UK rare disease environment? https://pf-media.co.uk/opinion/what-are-the-opportunities-and-challenges-in-the-uk-rare-disease-environment.
3. Pharmaphorum. Understanding the complex rare disease and specialty pharmaceutical landscape https://pharmaphorum.com/market-access/understanding-complex-rare-disease-and-specialty-pharmaceutical-landscape.
4. Stella Tattan, Nelly Ly, Sophia Fleming, Ayomikun Ilevbare, Vickram Tittrea, Rachel Armstrong, Valeria Lascano Rare Disease Day: How Precision Medicine and RWE are improving outcomes for sickle cell disease patients https://www.iqvia.com/locations/united-kingdom/blogs/2024/02/how-precision-medicine-and-rwe-are-improving-outcomes-for-sickle-cell-disease-patients.
5. ATLAS.ti Primary Data: Definition, Examples & Collection Methods. https://atlasti.com/research-hub/primary-data.
6. Liu J, Barrett JS, Leonardi ET, Lee L, Roychoudhury S, Chen Y, et al. Natural History and Real World Data in Rare Diseases: Applications, Limitations, and Future Perspectives. The Journal of Clinical Pharma [Internet]. 2022 Dec [cited 2025 Feb 5];62(S2). Available from: https://accp1.onlinelibrary.wiley.com/doi/10.1002/jcph.2134
7. Whicher D, Philbin S, Aronson N. An overview of the impact of rare disease characteristics on research methodology. Orphanet J Rare Dis. 2018 Dec;13(1):14.
8. Hageman IC, van Rooij IALM, de Blaauw I, Trajanovska M, King SK. A systematic overview of rare disease patient registries: challenges in design, quality management, and maintenance. Orphanet J Rare Dis. 2023 May 5;18(1):106.
9. Stefan Lutzmayer, Kirstie Scott, Sarah Rickwood. From Orphan to Opportunity: Mastering Rare Disease Launch Excellence from-orphan-to-opportunity-mastering-rare-disease-launch-excellence.pdf.
10. Mitani AA, Haneuse S. Small Data Challenges of Studying Rare Diseases. JAMA Netw Open. 2020 Mar 23;3(3):e201965.
11. NHS Health Research Authority https://www.hra.nhs.uk/approvals-amendments/what-approvals-do-i-need/research-ethics-committee-review.
IQVIA Real World Solutions is the proven partner life science companies trust to take on their complex evidence challenges. We enable our customers to generate and disseminate real world evidence to answer crucial questions and meet the needs of their stakeholders.
