A paradox inherent in any effort to develop a therapy targeting a rare disease—defined in the US as one afflicting fewer than 200,000 people and in the EU as one afflicting fewer than 5 in 10,000 people1,2—is that testing the efficacy of the therapy requires identifying and then engaging individuals with the disease in clinical trials. When a disease afflicts so few people, it can be very challenging to find and recruit afflicted individuals for a clinical trial— particularly when the disease is complex to manage. Sites that have an established pedigree in interventional clinical research may not have a sufficiency of individuals with the condition within their catchment area. Centers and large academic institutions—where rare disease trials are traditionally conducted and which have expertise in the clinical management of patients with rare disorders—may have neither the staffing nor the infrastructure appropriate for interventional clinical trials administered according to current good clinical practice (GCP) protocols.
While a Phase I clinical trial for any investigative product (IP) involving prototypical small molecules typically recruits healthy volunteers, trials involving advanced therapy medicinal products (ATMPs) generally cannot be evaluated in that population. The question of whether an ATMP targeting a rare disease will be safe and potentially effective for the population afflicted by the disease becomes the focus in clinical management. Thus, the ability to conduct studies with sufficient rigor, at centers with appropriate expertise, and with patients afflicted with the rare disease becomes a key operational challenge and a precursor to successful program completion.
This unique aspect of clinical research involving rare disease patients poses a number of novel questions about patient contact, pre-screening and screening, management, and logistics. This paper explores those questions, the challenges they create, and how they can be addressed.
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