Journal article
Development of a Suspicion Index to aid diagnosis of Niemann-Pick disease type C
FA Wijburg, F Sedel, M Pineda, CJ Hendriksz, M Fahey, M Walterfang, MC Patterson, JE Wraith, SA Kolb
Neurology | Published : 2012
Abstract
Objectives: Niemann-Pick disease type C (NP-C) is a rare, autosomal recessive lysosomal lipid storage disorder that is invariably fatal. NP-C diagnosis can be delayed for years due to heterogeneous presentation; adult-onset NP-C can be particularly difficult to diagnose. We developed a Suspicion Index tool, ranking specific symptoms within and across domains, including family members who have NP-C, to provide a risk prediction score to identify patients who should undergo testing for NP-C. Methods: A retrospective chart review was performed in 5 centers in Europe and 2 in Australia (n 216). Three patient types were selected: classic or variant filipin staining NP-C cases (n 71), NP-C noncase..
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Funding Acknowledgements
[ "Development of the Suspicion Index was supported by an unrestricted grant from Actelion Pharmaceuticals Ltd., Allschwil, Switzerland.", "The authors thank the sponsor, Actelion Pharmaceuticals Ltd., Switzerland, for providing financial support for development of the Suspicion Index tool, and staff at their research centers for assistance with data collection; and Joost Nicolai of the University Hospital Maastricht, Hannerieke van den Hout of the Erasmus Medical Center, Rotterdam, and Linda van der Tol and Ben Poorthuis of the Academic Medical Center, Amsterdam, for their support in obtaining the data of the Dutch patients. Statistical analysis of the data was conducted under the responsibility of Harbajan Chadha-Boreham of Actelion Pharmaceuticals Ltd., with advice from Martin Schumacher of the University of Freiburg, Germany, and was performed by Martin Scott and Lynn Dunsire of Numerus Ltd., UK. Input into study design, data collection, and editorial support during the preparation of the manuscript was provided by Charles Robinson and Jude Fry of PHOCUS Services, Basel, Switzerland, supported by Actelion Pharmaceuticals Ltd." ]