Abstract
BackgroundThe 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.MethodsA web-based registry was set up to collect information on long-term safety and effectiveness of canakinumab for CAPS.ResultsStarting 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.ConclusionsInnovative 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.
Highlights
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)
FCAS and MWS, on the less severe end of the spectrum, are typically first noted in infancy, early childhood or adolescence; while NOMID, known as Chronic Infantile Neurologic Cutaneous Articular (CINCA) syndrome is a severe, sporadic form of the condition presenting in the neonatal period with multi-organ system inflammatory involvement, including significant central nervous system manifestations, not seen in other forms of CAPS
This paper presents data entered in the Registry by Dec 31, 2012
Summary
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). Cryopyrin-Associated Periodic Syndromes (CAPS), Familial Cold Autoinflammatory Syndrome (FCAS), Muckle-Wells Syndrome (MWS), and Neonatal Onset Multisystem Inflammatory Disease (NOMID), are a group of rare hereditary autoinflammatory diseases, with estimated population frequency ranging from 1–3 per million [1]. These syndromes are typically a result of an autosomal dominant or de novo mutation of the cold-induced auto-inflammatory syndrome 1 (CIAS1)/nod-like receptor protein 3 (NLRP3) gene on chromosome 1 [2]. FCAS and MWS, on the less severe end of the spectrum, are typically first noted in infancy, early childhood or adolescence; while NOMID, known as Chronic Infantile Neurologic Cutaneous Articular (CINCA) syndrome is a severe, sporadic form of the condition presenting in the neonatal period with multi-organ system inflammatory involvement, including significant central nervous system manifestations, not seen in other forms of CAPS
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