Psychiatric and neurological symptoms in patients with Niemann-Pick disease type C (NP-C): Findings from the International NPC Registry

Objectives: Niemann-Pick disease type C (NP-C) is a rare inherited neurovisceral disease that should be recognised by psychiatrists as a possible underlying cause of psychiatric abnormalities. This...

Recommendations on the diagnosis and management of Niemann-Pick disease type C

Niemann-Pick disease type C (NP-C) is a lysosomal storage disease in which impaired intracellular lipid trafficking leads to excess storage of cholesterol and glycosphingolipids in the brain and other tissues. it is characterized clinically by a variety of progressive, disabling neurological symptoms including clumsiness, limb and gait ataxia, dysarthria, dysphagia and cognitive deterioration (dementia). Until recently, there has been no disease-modifying therapy available for NP-C, with treatment limited to supportive measures. In most countries, NP-C is managed through specialist centers, with non-specialist support provided locally. However, effective patient Support is hampered by the a…

Miglustat in patients with Niemann-Pick disease Type C (NP-C): A multicenter observational retrospective cohort study

Miglustat has been shown to stabilize disease progression in children, juveniles and adults with Niemann-Pick disease type C (NP-C), a rare genetic disorder characterized by progressive neurological deterioration. We report findings from a retrospective observational cohort study assessing the effects of miglustat on neurological disease progression in patients treated in the clinical practice setting. Data from all NP-C patients prescribed miglustat at 25 expert centers were evaluated using a disease disability scale. The scale analyzed four key parameters of neurological disease progression in NP-C (ambulation, manipulation, language, swallowing). Mean individual parameter scores and a co…

100. A multicentre retrospective survey of miglustat in patients with Niemann-Pick type C disease

Longitudinal data from the international registry for Niemann-Pick disease type C (NPC)

(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…

Baseline data from a prospective international disease registry for Niemann-Pick disease type C

Correction: Disease and patient characteristics in NP-C patients: findings from an international disease registry

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Update From the International Registry for Niemann-Pick Disease Type C (NP-C) in Clinical Practice

Disease and patient characteristics in NP-C patients: findings from an international disease registry.

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…

1035 The International Registry for Niemann-Pick Disease Type C (NP-C) in Clinical Practice

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 19 th 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 ( 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.

Psychiatric and neurological symptoms in patients with Niemann-Pick disease type C (NP-C): Findings from the International NPC Registry

Objectives: Niemann-Pick disease type C (NP-C) is a rare inherited neurovisceral disease that should be recognised by psychiatrists as a possible underlying cause of psychiatric abnormalities. This study describes NP-C patients who had psychiatric manifestations at enrolment in the international NPC Registry, a unique multicentre, prospective, observational disease registry. Methods: Treating physicians’ data entries describing psychiatric manifestations in NPC patients were coded and grouped by expert psychiatrists. Results: Out of 386 NP-C patients included in the registry as of October 2015, psychiatric abnormalities were reported to be present in 34% (94/280) of those with available dat…