ArticleJournal of inherited metabolic disease2013
Long-term efficacy of miglustat in paediatric patients with Niemann-Pick disease type C.
Article in Journal of inherited metabolic disease, 2013. The graph could read no effect estimate from its abstract, so it casts no vote on the map. It is linked to trial NCT01760564 (Application of Miglustat in Patients With Niemann-Pick Type C), which is not on this map. Cited by 26 papers.
What it found
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
Application of Miglustat in Patients With Niemann-Pick Type C
Who cites it
26 citing papers in PubMed, 42 citations in OpenAlex.
- Long term follow-up to evaluate the efficacy of miglustat treatment in Italian patients with Niemann-Pick disease type C.Orphanet journal of rare diseases · 2015Trial
- Article
- Evaluation of the safety and efficacy of miglustat for the treatment of Chinese patients with Niemann-Pick disease type C: A prospective, open-label, single-arm, phase IV trial.Intractable & rare diseases research · 2024Article
- Loss of Flot2 expression in deep cerebellar nuclei neurons of mice with Niemann-Pick disease type C.Heliyon · 2023Article
- Characterization of Dysphagia and Longitudinal Changes in Swallowing Function in Adults with Niemann-Pick Disease Type C Treated with Miglustat.Dysphagia · 2021Article
- Long-term survival outcomes of patients with Niemann-Pick disease type C receiving miglustat treatment: A large retrospective observational study.Journal of inherited metabolic disease · 2020Observational
- Psychiatric and Cognitive Symptoms Associated with Niemann-Pick Type C Disease: Neurobiology and Management.CNS drugs · 2019Review
- Miglustat in Niemann-Pick disease type C patients: a review.Orphanet journal of rare diseases · 2018Review
- Distinguishing neurocognitive deficits in adult patients with NP-C from early onset Alzheimer's dementia.Orphanet journal of rare diseases · 2018Article
- Modeling Niemann Pick type C1 using human embryonic and induced pluripotent stem cells.Brain research · 2017Review
- Less Is More: Substrate Reduction Therapy for Lysosomal Storage Disorders.International journal of molecular sciences · 2016Review
- Combination Therapies for Lysosomal Storage Diseases: A Complex Answer to a Simple Problem.Pediatric endocrinology reviews : PER · 2016Review
- Normalisation of brain spectroscopy findings in Niemann-Pick disease type C patients treated with miglustat.Journal of neurology · 2016Observational
- Niemann-Pick disease treatment: a systematic review of clinical trials.Annals of translational medicine · 2015Review
- Stable or improved neurological manifestations during miglustat therapy in patients from the international disease registry for Niemann-Pick disease type C: an observational cohort study.Orphanet journal of rare diseases · 2015Article
- Phenotypic heterogeneity of Niemann-Pick disease type C in monozygotic twins.Journal of neurology · 2015Article
- Recent advances in the diagnosis and treatment of niemann-pick disease type C in children: a guide to early diagnosis for the general pediatrician.International journal of pediatrics · 2015Review
- Development of targeted therapies for Parkinson's disease and related synucleinopathies.Journal of lipid research · 2014Review
- Niemann-Pick C disease and mobilization of lysosomal cholesterol by cyclodextrin.Journal of lipid research · 2014Review
- Sphingolipid lysosomal storage disorders.Nature · 2014Review
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
9 authors at 2 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Niemann-Pick disease type C (NP-C) is a rare inherited neurovisceral disease characterized by progressive neurological manifestations. Oral miglustat was first approved for the treatment of children and adults with NP-C in Europe in 2009. There are still relatively few published data on the long-term efficacy and safety of miglustat in patients with NP-C in clinical practice. We report the effects of up to 6 years of treatment with miglustat 100 mg t.i.d. in five children. Overall, 3/5 patients displayed progressive dysphagia before starting miglustat, and 4/5 showed marked cognitive and/or motor impairment. The mean age at treatment start was 11.6 years, and the median (range) duration of therapy so far is 4 (4.1 to 6.1) years. No treatment dose alterations were required, but therapy was interrupted for 1-3 months at least once in all patients due to supply issues. Swallowing function was stabilised during miglustat therapy, with no significant increase in Han dysphagia scale or aspiration-penetration index scores among four evaluable patients (p > 0.05). Scores on the mini-mental state examination indicated an improvement in cognitive function during the first 3-6 months of miglustat therapy, followed by stabilisation up to 5 years. Ambulatory function remained stable for at least the first 2 years of treatment in most patients, but there was a trend towards deterioration thereafter, possibly related to treatment interruptions. The safety/tolerability profile of miglustat was similar to previous clinical studies, although reports of gastrointestinal disturbances were rare. Overall, miglustat appeared to stabilise key parameters of neurological disease progression.
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