Disease characteristics, prognosis and miglustat treatment effects on disease progression in patients with Niemann-Pick disease Type C: an international, multicenter, retrospective chart review

Niemann-Pick disease Type C (NP-C) is a lysosomal lipid storage disorder characterized by progressive neurodegenerative symptomatology. The signs and symptoms of NP-C vary with age at disease onset, and available therapies are directed at alleviating symptoms and stabilizing disease progression. We...

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Bibliographic Details
Published in:Orphanet journal of rare diseases 2019-02, Vol.14 (1), p.32-32, Article 32
Main Authors: Pineda, Mercedes, Juríčková, Katarína, Karimzadeh, Parvaneh, Kolnikova, Miriam, Malinova, Vera, Insua, Jose Luis, Velten, Christian, Kolb, Stefan A
Format: Article
Language:English
Subjects:
1-Deoxynojirimycin - analogs & derivatives
1-Deoxynojirimycin - therapeutic use
Adolescent
Adults
Age
Analysis
Ataxia
Brain diseases
Care and treatment
Child
Child, Preschool
Development and progression
Diagnosis
Disease characteristics
Female
Genetic disorders
Humans
Linear Models
Lipids
Male
Medical prognosis
Medical research
Metabolic disorders
Miglustat
Mutation
Neurological disorders
Niemann-Pick disease
Niemann-pick disease type C
Niemann-Pick Disease, Type C - drug therapy
Niemann-Pick Disease, Type C - pathology
NP-C
NP-C disability scales
Patients
Pediatrics
Pick's disease
Prognosis
Rare diseases
Retrospective Studies
Signs and symptoms
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Summary:Niemann-Pick disease Type C (NP-C) is a lysosomal lipid storage disorder characterized by progressive neurodegenerative symptomatology. The signs and symptoms of NP-C vary with age at disease onset, and available therapies are directed at alleviating symptoms and stabilizing disease progression. We report the characteristics and factors related to disease progression, and analyze the effect of miglustat treatment on disease progression and patient survival using NP-C disability scales. This retrospective, observational chart review included patients with NP-C from five expert NP-C centers. Patient disability scores were recorded using three published NP-C disability scales, and a unified disability scale was developed to allow comparison of data from each scale. Disease progression was represented by scores on the unified NP-C disability scale. Patients were stratified as infantile (
ISSN:1750-1172
1750-1172
DOI:10.1186/s13023-019-0996-6