Methodological challenges in monitoring new treatments for rare diseases: lessons from the cryopyrin-associated periodic syndrome registry

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  • Tilson, Hugh
    • Affiliation: Gillings School of Global Public Health
    • Other Affiliation: Chair, CAPS Registry Steering Committee
  • Primatesta, Paola
    • Other Affiliation: Novartis Pharma AG, Basel, Switzerland
  • Kim, Dennis
    • Other Affiliation: Novartis Pharmaceuticals Corporation, East Hanover, NJ, USA
  • Rauer, Barbara
    • Other Affiliation: Novartis Pharma AG, Basel, Switzerland
  • Hawkins, Philip N
    • Other Affiliation: University College London Medical School, London, United Kingdom
  • Hoffman, Hal M
    • Other Affiliation: University of California at San Diego, San Diego, CA, USA
  • Kuemmerle-Deschner, Jasmin
    • Other Affiliation: University Hospital Tuebingen, Tuebingen, Germany
  • van der Poll, Tom
    • Other Affiliation: Academic Medical Center, University of Amsterdam, Amsterdam, Netherlands
  • Walker, Ulrich A
    • Other Affiliation: Rheumatologische Universitäts-Poliklinik, Felix-Platter Spital, Basel, Switzerland
Abstract
  • Background: The Cryopyrin-Associated Periodic Syndromes (CAPS) are a group of rare hereditary autoinflammatory diseases and encompass Familial Cold Autoinflammatory Syndrome (FCAS), Muckle-Wells Syndrome (MWS), and Neonatal Onset Multisystem Inflammatory Disease (NOMID). Canakinumab is a monoclonal antibody directed against IL-1 beta and approved for CAPS patients but requires post-approval monitoring due to low and short exposures during the licensing process. Creative approaches to observational methodology are needed, harnessing novel registry strategies to ensure Health Care Provider reporting and patient monitoring. Methods: A web-based registry was set up to collect information on long-term safety and effectiveness of canakinumab for CAPS. Results: Starting in November 2009, this registry enrolled 241 patients in 43 centers and 13 countries by December 31, 2012. One-third of the enrolled population was aged < 18; the overall population is evenly divided by gender. Enrolment is ongoing for children. Conclusions: Innovative therapies in orphan diseases require post-approval structures to enable in depth understanding of safety and natural history of disease. The rarity and distribution of such diseases and unpredictability of treatment require innovative methods for enrolment and follow-up. Broad international practice-based recruitment and web-based data collection are practical.
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  • Article
Rights statement
  • In Copyright
Rights holder
  • Hugh Tilson et al.; licensee BioMed Central Ltd.
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Journal title
  • Orphanet Journal of Rare Diseases
Journal volume
  • 8
Journal issue
  • 1
Page start
  • 139
Language
  • English
Is the article or chapter peer-reviewed?
  • Yes
ISSN
  • 1750-1172
Bibliographic citation
  • Orphanet Journal of Rare Diseases. 2013 Sep 10;8(1):139
Publisher
  • BioMed Central Ltd
Access right
  • Open Access
Date uploaded
  • October 1, 2013

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