​Involving Families in Rare Disease Clinical Trials
Susan Tansey
Apr 19, 2017

While individual rare diseases can affect relatively small numbers of people, overall, the impact is staggering. There are around 7000 different known rare diseases, with the numbers growing every year. In total, rare diseases affect around 350 million people worldwide, more than the total population of the US. Around 75% of rare diseases affect children, and 35% of them will die in their first year of life.

While there is still a huge amount of unmet need, biopharma are increasing their focus on rare diseases, and this is bringing hope to affected people and their families. There are currently more than 450 medicines in development, and almost half of all the novel drugs approved in Europe in 2015 were for rare diseases.

In February 2017 I spoke on the importance of involving patients in rare disease clinical trials at the British Paediatric Surveillance Unit's second Rare Disease in Paediatrics conference, run in collaboration with Birmingham Children's Hospital. The theme of the conference was ‘From bench to bedside: New treatments for children with rare disease’, and my session was co-chaired by Mohini Samani, the chair of the NIHR West Midlands Clinical Research Network - Young Person’s Steering Group and a childhood acute lymphoblastic leukaemia survivor. In this blog, I reflect on some of the key themes that arose at the conference.

Meeting the rare disease challenge

Rare disease is a challenge for drug development. We don't know much about the mechanisms underlying many of the rare diseases and how they progress, and the differences in disease severity and sub-types adds to this challenge. This makes it harder to know what endpoints and outcome measures should be used in clinical trials. Added to this, patients may be scattered across the world, including remote locations.

While the regulatory bodies are trying to smooth the path to market, the approval pathways can be complex and may include post-marketing commitments and risk management requirements.

Working together with patients and their families can help companies to navigate some of these difficulties.

Involving families in drug development: Keeping the patient central

Developing a drug for a rare disease is a complex process, and there are a number of different ways that companies can create patient-centric trials and improve patient engagement, leading to better outcomes for both patients and researchers.

Working with patients, patient advocacy groups, and communities can help with trial recruitment by designing a trial that is clinically relevant to patients, and helps to ensure that the study not only fulfils the regulatory requirements but is feasible to conduct. Websites, mobile apps and social media can also help patients find the studies and sites and see how they can be involved.

It doesn't end with finding the patients, though. The clinical trial needs to be designed to make it as family-friendly as possible. This includes making sure that the study is practical and feasible for the patients and their families, without having too great an impact on school, work and family life. This could include keeping the number of visits and interventions to a minimum while retaining the need for sufficient data, and reducing travel for patients who may already be frail, or have school age siblings and working parents. Patient groups can also help to educate study sites and investigators about the disease.

People with rare diseases may be spread over wide geographic areas, and working with families and patient groups will help companies understand where patients may be concentrated, or how clinical trials could be taken to patients. Social media can help us to understand the patient pathway and how best to recruit them.

Patients can also play an important role in the creation of study documents and recruitment materials, both by checking the suitability of the language for children and adults, and by suggesting alternative materials, such as stickers and fridge magnets, or storybooks and comics.

Patient referral: Accessing the trials

The internet is increasingly becoming the key source for information about diseases, drugs and clinical trials, and this is particularly important in childhood disorders as the first generation of digital natives reach their mid-thirties and become parents. Companies and patient advocacy groups can use the opportunities available through websites, mobile apps and social media to inform patients about the treatments and trials available, educate them about rare diseases, and help them to connect and network with other families.

One of the opportunities available is through patient referral websites, where patients can read about the study aims, and apply to take part. It is important, though, to be aware that not all patients will be eligible, and study co-ordinators should follow up those who do not meet the inclusion criteria in order to provide support, and discuss other studies or treatment options that might be able to help them. Nurse educators can play an important role in support here.

Patient referral websites, electronic medical records and collaborations with geneticists can also help the pharmaceutical companies to understand about disease incidence, prevalence and geographic location of potential subjects.

From bench to bedside

Patients with rare diseases often have few treatment options. Through clinical trials of new treatments, pharmaceutical companies can offer hope for these patients. The patients need to be the centre of this process, and creating relationships between patients, patient advocacy groups, researchers and sites is a vital step towards clinical trials awareness, patient-focused trial design and patient recruitment.

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