Clinical trials for rare diseases – finding and keeping patients

International Clinical Trial day (May 20th) celebrates the medical advances as a result of clinical trials. Clinical trials are essential to ensure drug safety and efficacy, and the recent increase in the development of orphan drugs has led to an increase in rare disease clinical trials. The nature of rare diseases creates specific challenges for clinical trial design and patient recruitment.

A major challenge in any clinical trial is the recruitment of enough suitable patients – something made more difficult with a rare disease because there are so few patients meaning recruitment has to occur from a wide geographical area. Patient support groups are key in identifying and contacting these patients, and often know of equivalent groups in other countries. Increasingly they have patient registers that can contain information on patient location, genetics, health and sometimes biological sample data. Early contact with a patient support groups can also help identify clinical or research experts and current treatment centres (and their patients) that could assist with a trial. Additionally a dedicated trial website, suitably advertised, enables patients to learn more about the trial independently and enquire if interested.

A good trial design ensures valid and useful results however the “gold-standard” of a randomised, parallel group controlled trial may not be feasible with rare diseases due to low patient numbers and a lack of comparative interventions. Instead rare disease trials are more likely to have under 50 patients and be single arm, non-randomised, open label trials (Bell & Tudar Smith 2014). Details of the different approaches for designing an effective clinical trial design for rare disease can be found in a methodical review from Gagne et al., (2014).

Rare disease clinical trial logistics also require additional thought and a more patient-centric approach can ensure adequate recruitment and retention. Early consideration of acceptable physical burden, treatment durations and travel requirements, which support groups can often advise on, can speed up patient recruitment.

Many rare diseases are debilitating and/or affect children so patients will require an accompanying carer for visits – which increases travel and accommodation costs. Multiple trial centres, potentially across several countries, can help reduce the required travel and be favourable to patients. An example is the AKU Society developAKUre trial which has trial centres in the UK, France and Slovakia enabling more local participation. These countries were chosen based on patient support groups and registries, clinical and research expertise and in Slovakia a higher than average patient density. AKU patients from throughout Europe are also travelling to the UK to participate which requires additional planning and patient support such as translation services.

An alternative clinical trial strategy, which takes patient preference and potential difficulty travelling into account, is the provision of an in-home clinical service; the majority of simple clinical procedures (treatment administration, blood draws, health monitoring) are administered by a clinical nurse at home with travel to the designated clinical trial site only required for certain appointments. This significantly reduces the disruption to patients and their families in terms of time and can reduce travel and accommodation costs for the sponsor. In-home supported clinical trials have been found to have reduced withdrawal rates and the reduced burden on patients can encourage greater enrolment and completion of trials ahead of estimates (Norris et al., 2012).

Choosing to take part in a clinical trial is a personal decision and a patient has the right to withdraw at any time. By supporting rare disease patients from the start and throughout, making taking part in clinical trials as easy as possible, more effective treatments for a range of rare diseases can hopefully be approved for use. Information about ongoing trials can be found at clinicaltrials.gov. Participation in a clinical trials is not entirely risk free and should always be discussed with your doctor. You can find more information about the process of clinical trials here.

  • Bell SA, Tudur Smith C. A comparison of interventional clinical trials in rare versus non-rare diseases: an analysis of ClinicalTrials.gov. Orphanet J Rare Dis. 2014 Nov 26;9:170. PubMed PMID: 25427578.
  • Gagne JJ, Thompson L, O’Keefe K, Kesselheim AS. Innovative research methods for studying treatments for rare diseases: methodological review. BMJ. 2014 Nov 24;349:g6802. Review. PubMed PMID: 25422272.
  • Norris N, Pascale W, Tulipano D. In-home Clinical Services: Reducing patient burden and improving patient participation in studies. ACRP Clinical Research Articles. April 2012. http://www.symphonyclinicalresearch.com/Final%20ACRP-Publication.pdf

Thank you to Oliver Timmis at the AKU Society for providing insight into the developAKUre trial.

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