0000000000789747
AUTHOR
Harir Drevon
showing 3 related works from this author
Longitudinal data from the international registry for Niemann-Pick disease type C (NPC)
2014
(0.69) years. Among 74/80 patients with available data, 10 (14%) patients had early-infantile (aged b2 years), 24 (32%) late-infantile (2 to b6 years), 24 (32%) juvenile (6 to b15 years), and 16 (22%) adolescent/ adult (≥15 years) onset of neurological manifestations. Mean (95%CI) composite disability scores at enrolment and last follow-up visit were 0.39 (0.34, 0.45; N = 75) and 0.45 (0.39, 0.51; N = 76), respectively. A total of 52/72 (72%) patients were categorised as ’improved/stable’ ;2 0/ 72 (28%) were categorised as ‘progressed’. Safety and tolerability findings for miglustat were in line with previous published data. A low proportion of patients had chronic diarrhoea during follow u…
Correction: Disease and patient characteristics in NP-C patients: findings from an international disease registry
2013
International audience
Disease and patient characteristics in NP-C patients: findings from an international disease registry.
2013
Abstract Background Niemann-Pick disease type C (NP-C) is a rare neurovisceral disease characterized by progressive neurodegeneration and premature death. We report data recorded at enrolment in an ongoing international NP-C registry initiated in September 2009 to describe disease natural history, clinical course and treatment experience of NP-C patients in clinical practice settings. Methods The NPC Registry is a prospective observational cohort study. Participating sites are encouraged to evaluate all consecutive patients with a confirmed diagnosis of NP-C, regardless of their treatment status. All patients undergo clinical assessments and medical care as determined by their physicians. D…