CAPS orphan disease
As with all very rare diseases, the clinical development program with canakinumab included a very limited number of patients for a necessarily brief period of follow-up; therefore, the post-approval period was deemed a critical phase in which to gather more knowledge regarding the short- and long-term safety, effectiveness and treatment patterns associated with use of the product by clinicians and patients. Non-intrusive, wholly observational registry approaches are appropriate for such situations. The complexity of patients’ co-medications and co-morbidities can well be captured by an observational/registry study . However, the rarity of the condition poses some specific challenges because any one practice, even specialty practices, will likely only have a few patients, so that the treating physician needs to have clear guidance about which patients to include in the registry, and periodic reminders to keep the participation and data capture to acceptable levels. Methods for this registry were developed in accordance with the STROBE guidelines and the Registries User’s Guide, which importantly sets up criteria and recommendations supporting the planning, design and implementation of registries including considerations on data collection and quality assurance .
For the CAPS registry, a robust system for data collection was adopted. The CAPS registry approach features global reach, often with national coordinators/advocates; intensive collaboration with/ownership by opinion leaders/referral centres; targeted local and area programs of disease and registry awareness; and innovative low effort methods (web-based) of data collection.
An additional challenge regarding recruitment of these patients was due to the fact that these conditions can not only be diagnosed by paediatricians/ paediatric rheumatologists, but also by specialists caring for adult patients within and outside of rheumatology (e.g. dermatologists, immunologists and others). Thus, the referral centers were encouraged to extend the net of participating centers as widely as possible. This allowed capturing a more detailed natural history of the disease and understanding the gap between onset of disease and diagnosis, and treatment.
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