Miglustat in Niemann-Pick disease type C patients: a review, Orphanet Journal of Rare Diseases
Por um escritor misterioso
Last updated 04 setembro 2024
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Niemann-Pick disease type C (NP-C) is a rare, autosomal recessive, neurodegenerative disease associated with a wide variety of progressive neurological manifestations. Miglustat is indicated for the treatment of progressive neurological manifestations in both adults and children. Since approval in 2009 there has been a vast growth in clinical experience with miglustat. The effectiveness of miglustat has been assessed using a range of measures. Comprehensive review of published data from studies of cellular neuropathological markers and structural neurological indices in the brain, clinical impairment/disability, specific clinical neurological manifestations, and patient survival. Cranial diffusion tensor imaging and magnetic resonance spectroscopy studies have shown reduced levels of choline (a neurodegeneration marker), and choline/N-acetyl aspartate ratio (indicating increased neuronal viability) in the brain during up to 5 years of miglustat therapy, as well as a slowing of reductions in fractional anisotropy (an axonal/myelin integrity marker). A 2-year immunoassay study showed significant reductions in CSF-calbindin during treatment, indicating reduced cerebellar Purkinje cell loss. Magnetic resonance imaging studies have demonstrated a protective effect of miglustat on cerebellar and subcortical structure that correlated with clinical symptom severity. Numerous cohort studies assessing core neurological manifestations (impaired ambulation, manipulation, speech, swallowing, other) using NP-C disability scales indicate neurological stabilization over 2–8 years, with a trend for greater benefits in patients with older (non-infantile) age at neurological onset. A randomized controlled trial and several cohort studies have reported improvements or stabilization of saccadic eye movements during 1–5 years of therapy. Swallowing was also shown to improve/remain stable during the randomized trial (up to 2 years), as well as in long-term observational cohorts (up to 6 years). A meta-analysis of dysphagia – a potent risk factor for aspiration pneumonia and premature death in NP-C – demonstrated a survival benefit with miglustat due to improved/stabilized swallowing function. The effects of miglustat on neurological NP-C manifestations has been assessed using a range of approaches, with benefits ranging from cellular changes in the brain through to visible clinical improvements and improved survival.
Niemann Pick Disease Type C - Symptoms, Causes, Treatment
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Australian Research Updates Australian NPC Disease Foundation Inc
![Miglustat in Niemann-Pick disease type C patients: a review, Orphanet Journal of Rare Diseases](https://i1.rgstatic.net/publication/273485495_Recent_Advances_in_the_Diagnosis_and_Treatment_of_Niemann-Pick_Disease_Type_C_in_Children_A_Guide_to_Early_Diagnosis_for_the_General_Pediatrician/links/618bb31ed7d1af224bd058df/largepreview.png)
Recent Advances in the Diagnosis and Treatment of Niemann-Pick
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Miglustat in Niemann-Pick disease type C patients: a review
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IJMS, Free Full-Text
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Dysphagia as a risk factor for mortality in Niemann-Pick disease
![Miglustat in Niemann-Pick disease type C patients: a review, Orphanet Journal of Rare Diseases](https://www.frontiersin.org/files/Articles/845246/fgene-13-845246-HTML/image_m/fgene-13-845246-g002.jpg)
Frontiers Case Report: Be Aware of “New” Features of Niemann
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Subcortical Volumetric Reductions in Adult Niemann-Pick Disease
![Miglustat in Niemann-Pick disease type C patients: a review, Orphanet Journal of Rare Diseases](https://www.researchgate.net/profile/Jackie-Imrie/publication/40443634/figure/fig2/AS:394173518761989@1470989698363/Protocol-for-initiation-of-miglustat-treatment-in-NP-C-Reproduced-with-permission-from.png)
Protocol for initiation of miglustat treatment in NP-C. Reproduced
![Miglustat in Niemann-Pick disease type C patients: a review, Orphanet Journal of Rare Diseases](https://media.springernature.com/lw685/springer-static/image/art%3A10.1186%2Fs13023-023-02804-4/MediaObjects/13023_2023_2804_Fig1_HTML.png)
Effects of miglustat therapy on neurological disorder and survival
![Miglustat in Niemann-Pick disease type C patients: a review, Orphanet Journal of Rare Diseases](https://www.mdpi.com/ijms/ijms-20-04392/article_deploy/html/images/ijms-20-04392-g001.png)
IJMS, Free Full-Text
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Disease characteristics, prognosis and miglustat treatment effects
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Validation of the 5-domain Niemann-Pick type C Clinical Severity
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Niemann-Pick disease type C as a neurovisceral disease. Schematic
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PDF) Disease characteristics, prognosis and miglustat treatment
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