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1035 The International Registry for Niemann-Pick Disease Type C (NP-C) in Clinical Practice
  1. FA Wijburg1,
  2. E Mengel2,
  3. MC Patterson3,
  4. JE Wraith4,
  5. MT Vanier5,
  6. B Schwierin6,
  7. A Muller6,
  8. H Drevon7,
  9. M Pineda8
  1. 1Department of Pediatrics, Academic Medical Center, University of Amsterdam, Amsterdam, The Netherlands
  2. 2Villa Metabolica, University of Mainz, Mainz, Germany
  3. 3Mayo Clinic, Rochester, MN, USA
  4. 4Academic Health Science Centre, St Mary’s Hospital, Manchester, UK
  5. 5INSERM Unit 820, Lyon, France
  6. 6Actelion Pharmaceuticals Ltd, Allschwil, Switzerland
  7. 7Numerus Ltd, Sandhurst, UK
  8. 8Hospital Sant Joan de Déu, Barcelona, Spain

Abstract

Background and Aim An international disease registry was started in September 2009 to evaluate the long-term disease course of NP-C in clinical settings.

Methods Descriptive data from enrolment are presented for all patients with available data who were included in the Registry as of 19th August 2011.

Results 121 patients have been enrolled. The median (range) age at enrolment was 16.9 (0.9−56.6) years, age at onset of neurological manifestations was 8.2 (< 1−48.0) years (n=100), and age at diagnosis was 11.8 (0.1−53.9) years (n=110). A history of neonatal jaundice was recorded in 4/4 evaluable patients with early-infantile (EI) onset of neurological manifestations (at age < 2 years; n=9), 6/21 (29%) with late-infantile (LI) onset (at 2 to < 6 years; n=31), 6/21 (29%) with juvenile (JUV) onset (at 6 to < 15 years; n=31), and 3/20 (15%) with adolescent/adult (AA) onset (at ≥ 15 years; n=29). Miglustat therapy at enrolment was recorded in 88/121 (73%) patients; mean (SD) exposure 1.69 (1.85) years (n=86). Neurological manifestations were observed in 71/84 (85%) patients: ataxia (71%), vertical gaze palsy (68%) and dysarthria (62%) were most frequent. Median (range) disability scores (0=normal; 1=worst) were: 0.0 (0.0–0.94) in EI (n=7), 0.29 (0.0–1.0) in LI (n=28), 0.41 (0.15–0.88) in JUV (n=28), and 0.29 (0.06–0.81) in AA-onset patients (n=26). A low proportion of patients had normal language, manipulation, ambulation, and/or swallowing.

Conclusions Over two-thirds of this NP-C cohort had infantile or juvenile onset of neurological manifestations; neonatal jaundice was observed more frequently in these patients versus adolescent/adult-onset patients.

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