Responding to the challenge of recruiting for orphan diseases

Over the last few decades I have witnessed profound changes and advances not only in the range of treatments but in the way, and now the variety of venues used to administer drugs for clinical trials. This diversity in administration has brought with it some interesting challenges for both the recipients and the administrators of drugs alike but it has also broadened the flexibility and ease of compliance for one particular group – those that suffer from a disease in the group known as “orphan diseases”.

Orphan diseases or rare diseases affect a small percentage of the population as individual diseases although currently 3.5 million people are affected in the UK1.   Orphan diseases in the EU are those affecting less than 5 in 10,000 people or in the US less than 200,000 people.

The majority of these diseases are genetic and although symptoms may not appear immediately they are usually present throughout that patient’s life.  The reality is harsh, as many as 30% of children affected by these orphan diseases die before they reach the age of five.

Recruiting and retaining patients with orphan diseases for clinical trials has traditionally been somewhat difficult. One of the key reasons being that for someone with an orphan disease their time is precious and it can be a serious decision to set aside some of that time for the benefit of research. Many sufferers have complex illnesses that result in them feeling most comfortable in their own environment, whether that be their own bedroom or a family member’s living room. In addition blood samples and other bodily samples may be taken and processed in the patient’s home.

Home visiting and the practicalities of community administration are an obvious way to address this issue. They provide an emphatic and beneficial outcome for the sufferer, which is ultimately the gold standard. This in turn  can lead to all sorts of other benefits such as  reductions in overnight stays in hospital thereby lowering overheads and the strong possibility of prolonged compliance if the subject does not have to do all the travelling to specialist clinics. Patients are likely to be far more willing to enter into a clinical trial in the first place and not only that far more likely to stay in the study for the duration if treated and assessments undertaken in the home (or school or workplace where this is appropriate).

In addition, for sufferers of orphan diseases and their families there is another strong reason to remain compliant and enter clinical trials; prognosis is poor for many patients, and so any possibility of a treatment that will improve the quality of life not only for the subject but their families and carers offers a large incentive both for sufferers and for researchers.

Research nurses have a vital role to play in providing this avenue of treatment in the community to this group of patients.  This method of care and administration ensures compliance, and if appropriate correct teaching to either the subject or carer and builds up a rapport with members of the research team and, most importantly, visits can be arranged to suit the subject’s life style.  By allowing experienced research nurses to carry out these home visits, the trial data collected is clean and Quality of Life assessments gained are truly accurate.  What better way is there to rise to the challenge and trial medical devices /IMP in the environment in which it is anticipated that it will be administered in, especially in this challenging and sometimes neglected area of orphan diseases?

  1. Rare Disease UK – The National Alliance for people with rare dieases & all who support them

Sue Mackay

Sue is Research Nurse Team Manager at With over 30 years nursing experience, 14 of which have been in research, she is a much respected member of the management team.

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