How Can Sponsors Support Sites Running a Rare Disease Trial?

Posted by Heather Pitt on Aug 19, 2019 2:10:43 PM

For decades, patients with a rare disease were often left without a confirmed diagnosis and had few or no treatment options. Efforts to research rare diseases were siloed and there was little in the way of global collaboration.

Then in 2011 the International Rare Diseases Research Consortium (IRDiRC) was established. Since then, we’ve seen a surge of research activity in the area of rare diseases, thanks to major public sector research initiatives, as well as increased engagement and partnering between public funders, scientists, industry, and patients.

Today, a search of suggests there are nearly 200 orphan drugs in development. However, the practicalities of running trials for rare diseases can still be a challenge.


Running trials for rare diseases

The manifold challenges involved in running a trial in a rare disease range from the fundamental knowledge about disease etiology and progression to the dispersed physical locations of a small number of patients. From an operational perspective, however, there are several unique challenges that need to be considered.

Patients with rare diseases may be entering your trial after many years of searching for a diagnosis and waiting for a potential treatment. They may be experiencing a diminished quality of life, and they (and their family) may already feel frustrated with their level of care. An understanding of the burden of the patient’s condition will be essential in engaging with them and recruiting them to the study.

Retention of patients is even more critical in a rare disease trial as the pool of prospective patients is so small. It is, therefore, extremely important to ensure that patients are well supported throughout the trial. This includes considering whether the protocol takes into account the day-to-day reality of living with a rare disease, especially if sites are dispersed across large geographical areas and patients need to travel. Treatment of rare diseases often also involves multiple clinical specialities, and so an important aspect of running any rare trial is coordinating individual patient care.

Many sites have never run a rare disease trial and it is vital that sponsors ensure they have the support they need. This involves training in both the disease being studied and the unique burdens faced by patients. But it will also include navigating the various cultures, processes, and regulations related to orphan drug development in different countries.


How can sponsors support sites running a rare disease trial?

In order to reach the patient population for rare disease studies, sponsors may need to expand outside their usual experienced sites. As these sites are not as experienced they will require more support. So what can be done?

Proactively engage patients and sites to help shape your study

Patients with rare diseases and their families tend to be very well informed about their condition and engaged with healthcare providers. By involving patients and sites in the development of the trial, you can be sure that the protocol is well suited to patient needs, and both patients and sites will be engaged from the start and motivated to help make the trial a success. This can be particularly important in the case of children and young adults, who comprise approximately 50% of the rare disease patient population.

Train up your sites to succeed

In addition to including sites in trial development, providing them with ongoing support is essential. This includes delivering training up-front but also ensuring they can continually access refresher training modules and other information when they need it. This is especially important in rare diseases as new information comes to light, and as the regulatory approval pathway is still evolving. 

Fail early

We go to great lengths to write protocols that accurately predict the number of patients we will recruit to clinical studies. However, the realities soon kick in when we witness consistent screening failures due to the eligibility criteria. Accurate pre-screen metrics are crucial to understanding how we tweak those eligibility criteria to allow more patients into our studies.

Provide a slick, seamless trial experience for everyone

To ensure high levels of patient retention, it’s important to reduce the burden on the patient and caregiver in terms of the number of clinic visits. Consistent communication to the patient via video media, messaging, and a centralized and approved online knowledge repository will go a long way to keeping patients informed and interested in the study. It’s equally crucial to provide a good experience when patients need to attend the clinic. Much of this can be achieved through offering tools to prep your study sites in advance, reducing complexity, and ensuring that clinic visits are a seamless and slick experience for everyone. 

Embrace digital and mobile technologies

By virtue of needing to find out more about their condition, patients with rare diseases are often familiar with accessing information via the internet, and frequently participate in communities on social media. By embracing mobile and web-based communication channels, sponsors and sites can make the most of the way these patients already interact with health information, along with their familiarity with technology, to achieve deeper engagement. This can help with initial recruitment but may also provide the means for continued engagement from the beginning of the trial through to follow-up.



Patients with rare diseases are a unique population and it is important to engage them in the design of trials for their condition. In addition, geographical dispersion and the complexity of rare diseases can pose unique challenges to trial sites.

To achieve success, sponsors should embrace new technologies that build deeper engagement with patients and sites, and make it easy to adapt to demands caused by the evolving regulatory environment for drugs for rare diseases.

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Topics: Clinical Trial Results, Patient Compliance, patient engagement, clinical trial technologies, Mobile technology, Rare Diseases, Clinical Reseach, Clinical Trials, Sponsors, Rare Disease Trial

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