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

Orphanet Journal of Rare Diseases

Ulrich A Walker¹  Tom van der Poll⁶  Jasmin Kuemmerle-Deschner³  Hal M Hoffman⁸  Philip N Hawkins⁷  Barbara Rauer⁵  Dennis Kim²  Paola Primatesta⁵  Hugh Tilson⁴ 

[1] Rheumatologische Universitäts-Poliklinik, Felix-Platter Spital, Basel, Switzerland;Novartis Pharmaceuticals Corporation, East Hanover, NJ, USA;University Hospital Tuebingen, Tuebingen, Germany;UNC Gillings School of Global Public Health, Chapel Hill, NC, USA and Chair, CAPS Registry Steering Committee, Chapel Hill, NC, USA;Novartis Pharma AG, Basel, Switzerland;Academic Medical Center, University of Amsterdam, Amsterdam, Netherlands;University College London Medical School, London, United Kingdom;University of California at San Diego, San Diego, CA, USA

关键词: Observational study;    Epidemiology;    Registry;    Cryopyrin-associated periodic syndrome;   

Others  :  863562
DOI  :  10.1186/1750-1172-8-139

 received in 2013-06-18, accepted in 2013-09-03,  发布年份 2013

【 摘 要 】

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.

【 授权许可】

   
2013 Tilson et al.; licensee BioMed Central Ltd.

【 图 表 】

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