Miglustat in Niemann-Pick disease type C patients: a review, Orphanet Journal of Rare Diseases
Por um escritor misterioso
Last updated 01 junho 2024
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.
IJMS, Free Full-Text
PDF) Disease characteristics, prognosis and miglustat treatment
Laboratory diagnosis of Niemann-Pick disease type C: the filipin
PDF) Effects of miglustat therapy on neurological disorder and
The Neuropsychiatry of Niemann-Pick Type C Disease in Adulthood
Effects of Miglustat on Stabilization of Neurological Disorder in
PDF] Miglustat for treatment of Niemann-Pick C disease: a
Subcortical Volumetric Reductions in Adult Niemann-Pick Disease
IJMS, Free Full-Text
Effects of miglustat therapy on neurological disorder and survival
Recomendado para você
-
Niemann-Pick Type C « Niemann-Pick Children's Fund, Inc01 junho 2024
-
ASMD O TIPO “A” DA - Associação Niemann-Pick Brasil01 junho 2024
-
Doença de Niemann-Pick Concise Medical Knowledge01 junho 2024
-
Doença de Niemann-Pick01 junho 2024
-
Doença de Niemann-Pick tipo A: mancha vermelho-cereja e regressão01 junho 2024
-
Manifestacoes clinicas presentes na doenca de Niemann-Pick tipo c01 junho 2024
-
Niemann-Pick Disease - Western New York Urology Associates01 junho 2024
-
Pense NP-C / Niemann-Pick Tipo C01 junho 2024
-
Protocol for initiation of miglustat treatment in NP-C. Reproduced01 junho 2024
-
Família relata drama de menino com 'cérebro trêmulo' - BBC News Brasil01 junho 2024
você pode gostar
-
Diablo Immortal best classes for beginners01 junho 2024
-
Akatsuki nuvem PNG imagem transparente01 junho 2024
-
Snowrbx noob to pro series got roasted01 junho 2024
-
WFM – Apps no Google Play01 junho 2024
-
Vetores de Ícone De Vetor Chama Fogo e mais imagens de Bola de Fogo - Bola de Fogo, Fogo, Logotipo - iStock01 junho 2024
-
one piece stampede luffy #onepiece #luffy #boahankock#fyp #fypシ #onep01 junho 2024
-
Steins;Gate 0 (TV series) - Wikipedia01 junho 2024
-
The Weight - song and lyrics by Playing For Change, Robbie Robertson, Ringo Starr, Lukas Nelson, Mermans Mosengo01 junho 2024
-
Bully 2 e DLC de história de GTA V aparecem em vazamento da Rockstar01 junho 2024
-
Steam Community :: :: Me emperra01 junho 2024