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Applying real-world evidence to orphan drugs

How to prove pharma’s innovative treatments really can bring about positive outcomes

Double Helix Mariam BibiRandomised Controlled Trials (RCTs) are fundamental for generating clinical data on efficacy and safety and, due to their internal validity, have earned their place at the top of the hierarchy of evidence. However, they only provide part of the story due to their strict inclusion/exclusion criteria and, as a result, the information may not be 'generalisable' to a broader group of patients. Increasingly, stakeholders, including regulators and payers, are seeking supporting evidence of effectiveness in routine clinical practice, which is applicable to their population.

Real-world evidence has been widely discussed as the missing piece of the evidence puzzle. The challenge for pharmaceutical companies is understanding what this evidence looks like and how it can be used to demonstrate positive patient outcomes and achieve commercial success. This is increasingly important as the pharmaceutical industry moves away from a blockbuster model to more novel, often innovative, therapies. Healthcare providers are having to derive increased value from medicines in targeted patient populations, while maximising healthcare resource, in order to provide optimal patient outcomes.

This is particularly challenging in the area of rare diseases, in which there have been substantial advances, largely due to our increased knowledge of the genomic and biological makeup of the conditions. In 2014, the European Medicines Agency (EMA) recommended a record number of orphan designated medicines for marketing authorisation: 17 out of 82 medicines recommended were for the treatment of a rare disease, providing life-changing therapies for patients who often have limited or no treatment options. However, for many rare disease therapies, the research and development (R&D) costs far outweigh the expected revenue once the product is launched.

Increasingly stakeholders, including regulators and payers, are seeking supporting evidence of effectiveness in routine clinical practice

Rare disease incentives
In both the US and Europe, a number of initiatives have been set up to offer incentives to pharmaceutical companies, in order to encourage the development of innovative treatments in the rare disease space.

These include the United States 1983 Orphan Drug Act, which offers tax incentives, the Food and Drug Administration (FDA) Office of Orphan Products (OOPD) which promotes collaboration between multiple stakeholders by offering training programmes to encourage research, and the National Institutes of Health (NIH) Office of Rare Disease Research (ORDR), which funds new research and promotes educational initiatives in rare disease research. In Europe, the EU Committee of Experts on Rare Diseases (EUCERD) and the European Platform for Rare Disease Registries (EPIRARE) both encourage research and collaboration in the rare disease space.

Gathering iterative evidence
Although incentives are offered to promote R&D in rare disease treatment, iterative evidence generation is required. Providing complementary evidence to stakeholders is invaluable as, often due to the small number of patients and lack of head-to-head clinical trial data, the evidence base is limited. This is where real-world evidence can play an important role and where real-world data can support evidence generation across the product lifecycle. So what can this look like for a pharmaceutical company working in the rare disease space?

Disease registries, which have historically been established to support post-marketing safety requirements, are increasingly used to help understand the burden of the disease, highlight any unmet needs and provide epidemiological data. They can also be used to inform clinical trial design, demonstrate effectiveness and support value post launch but it is important to appreciate that a 'one size fits all' approach is not always appropriate or efficient.

Real-world data options
However, in some cases, the implementation of a disease registry may not be feasible, so an understanding of the breadth of real-world data options can help companies select the right approach to plug various evidence gaps. These can range from individual patient data records from primary care and secondary care, as well as disease-specific, demographic and socioeconomic databases that can be used to assess treatment patterns, outcomes, service evaluations and access to care. Prospective or retrospective real-world data from patients, caregivers or healthcare professionals, observational studies, surveys or databases are a few other examples of approaches that come under the broad umbrella of real-world evidence.

Embracing real-world evidence as a tool to demonstrate effectiveness beyond the clinical trial setting can help pharmaceutical companies provide evidence on improved patient outcomes, improve healthcare system efficiencies, and provide a rewarding return on investment (ROI).

Dr Mariam Bibi is principal, real world evidence at Double Helix Consulting. Email:

In association with Double Helix

23rd March 2016

From: Research



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