miglustat / Generic mfg. 
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  • ||||||||||  miglustat / Generic mfg.
    Journal:  Estimating the prevalence of Niemann-Pick disease type C (NPC) in the United States. (Pubmed Central) -  Feb 25, 2022   
    NPC is an ultra-rare, progressive neurodegenerative disease with approximately 1 per million people in the United States diagnosed with or treated off-label for NPC. Given that NPC is often misdiagnosed or undiagnosed, the estimated prevalence from the epidemiology calculations (2.9 per million) approximates the number of NPC cases if disease awareness, screening and diagnosis efforts were enhanced.
  • ||||||||||  miglustat / Generic mfg.
    Trial completion date, Trial primary completion date:  Effects of Miglustat Therapy on Infantile Type of Sandhoff and Taysachs Diseases (EMTISTD) (clinicaltrials.gov) -  Feb 11, 2022   
    P3,  N=30, Recruiting, 
    Given that NPC is often misdiagnosed or undiagnosed, the estimated prevalence from the epidemiology calculations (2.9 per million) approximates the number of NPC cases if disease awareness, screening and diagnosis efforts were enhanced. Trial completion date: Dec 2021 --> Apr 2022 | Trial primary completion date: Sep 2021 --> Mar 2022
  • ||||||||||  miglustat / Generic mfg.
    Clinical, Retrospective data, Journal, Orphan drug:  Clinical experience with orphan drugs for rare metabolic diseases. (Pubmed Central) -  Jan 27, 2022   
    These drugs have a high economic impact. The cost-effectiveness ratio for orphan drugs is a controversial issue due to their high cost and the inconclusive clinical evidence.
  • ||||||||||  miglustat / Generic mfg.
    Clinical, Journal:  Nutrition management of Niemann Pick disease type C: A case report. (Pubmed Central) -  Jan 14, 2022   
    We aim to report the clinical repercussions of a nutritional approach in a patient diagnosed with Niemann Pick disease type C (NPC) using miglustat as pharmacological therapy...Conclusions. We found that nutritional prescription aided in the treatment of NPC and revealed that nutritional care represents an important strategy in the management of rare genetic diseases.
  • ||||||||||  miglustat / Generic mfg.
    Journal:  Natural Products with Potential for Nonhormonal Male Contraception. (Pubmed Central) -  Dec 16, 2021   
    β-Caryophyllene, embelin, oleanolic acid, triptonide, and N-butyldeoxynojirimycin (NB-DNJ) were selected as the five most promising compounds for future study using prespecified criteria such as number of studies, efficacy and safety profile, reversibility, and previous use in humans for any indication. In order to move forward with development of a male contraceptive from a natural source, additional studies are needed to determine the predicted safety and efficacy for in vivo and human clinical trials.
  • ||||||||||  miglustat / Generic mfg.
    Review, Journal:  An overview of therapeutic potential of N-alkylated 1-deoxynojirimycin congeners. (Pubmed Central) -  Nov 21, 2021   
    This review examines the therapeutic potential of important DNJ congeners reported in last decade and presents concise mechanism of glycosidase inhibition. A brief overview of substituents conjugation's impact on DNJ scaffold (including N-alkylated DNJ derivatives, mono-valent, di-valent and multivalent DNJ congeners, N-[5-(adamantan-1-yl-methoxy)-pentyl]-1-deoxynojirimycin (AMP-DNM) look alike DNJ based lipophilic derivatives, AMP-DNM based neoglycoconjugates, DNJ click derivatives with varying carboxylic acids and aromatic moieties, conjugates of DNJ and glucose, and N-bridged DNJ analogues) towards various enzymes such as α/β glucosidase, porcine trehalase, as F508del-CFTR correctors, α-mannosidase, human placental β-glucocerebrosidase, N370S β-GCase, α-amylase and insect trehalase as potent and selective inhibitors have been discussed with potential bioactivities, which can provide inspiration for future studies.
  • ||||||||||  miglustat / Generic mfg.
    Journal:  A computational approach to analyse the amino acid variants of GLB1 protein causing GM1 Gangliosidosis. (Pubmed Central) -  Oct 29, 2021   
    Structure based analysis was performed to understand the interacting profile of the native protein and variants with Miglustat; which is the currently used FDA drug as an alternative to enzyme replacement therapy...The analysis was done to the protein structures to check the structural variations happened through simulations. This study aids to understand the most deleterious mutants, the activity of the drug to the protein structure and also gives an insight on the stability of the drug with the native and selected variants.
  • ||||||||||  miglustat / Generic mfg.
    Observational data, Retrospective data, Journal:  Long-term survival outcomes of patients with Niemann-Pick disease type C receiving miglustat treatment: a large retrospective observational study. (Pubmed Central) -  Oct 7, 2021   
    The effect was observed consistently in all age-at-neurological-onset sub-groups (HRs = 0.3 to 0.7) and was statistically significant for late infantile-onset patients in both groups (Neurological onset group, HR = 0.36, P <?0.05; Diagnosis group, HR = 0.32, P <?0.01), and juvenile-onset patients in the Diagnosis group only (HR = 0.30, P <?0.05). Despite the limitations of the data that urge cautious interpretation, the findings are consistent with a beneficial effect of miglustat on survival in patients with NP-C.
  • ||||||||||  miglustat / Generic mfg.
    Enrollment closed, Trial completion date:  Safety and Efficacy of Miglustat in Chinese NPC Patients (clinicaltrials.gov) -  Sep 1, 2021   
    P4,  N=18, Active, not recruiting, 
    Despite the limitations of the data that urge cautious interpretation, the findings are consistent with a beneficial effect of miglustat on survival in patients with NP-C. Recruiting --> Active, not recruiting | Trial completion date: Jan 2022 --> May 2022
  • ||||||||||  miglustat / Generic mfg.
    Journal:  Mechanistic convergence and shared therapeutic targets in Niemann-Pick disease type C and Tangier disease. (Pubmed Central) -  Aug 25, 2021   
    In this study, we found that when ABCA1 is defective (Tangier disease) there is secondary inhibition of the NPC disease pathway, linking these two diseases at the level of cellular pathophysiology. In addition, this study further supports the hypothesis that miglustat, as well as other substrate reduction therapies, may be potential therapeutic agents for treating Tangier disease as fibroblasts from multiple Tangier patients were corrected by miglustat treatment.
  • ||||||||||  miglustat / Generic mfg.
    Journal:  Miglustat Therapy for SCARB2-Associated Action Myoclonus-Renal Failure Syndrome. (Pubmed Central) -  Aug 3, 2021   
    Progression of myoclonus halted, dysphagia resolved, some skills were reacquired, and seizures remained well controlled. The response suggests that neurologic symptoms of SCARB2-associated AMRF could be ameliorated, at least partly, by targeting glycosphingolipid metabolism with available medications.
  • ||||||||||  miglustat / Generic mfg.
    Journal:  The Glucosylceramide Synthase Inhibitor PDMP Causes Lysosomal Lipid Accumulation and mTOR Inactivation. (Pubmed Central) -  Jul 23, 2021   
    Here, we used a functionalized sphingosine analogue (pacSph) to investigate the acute effects of PDMP on cellular sphingolipid distribution and found that PDMP, but not other GCS inhibitors, such as ND-DNJ (also called Miglustat), induced sphingolipid accumulation in lysosomes...We could further correlate early LBPA enrichment with dissociation of the mechanistic target of rapamycin (mTOR) from lysosomes followed by nuclear translocation of its downtream target, transcription factor EB (TFEB). Altogether, we report here a timeline of lysosomal lipid accumulation events and mTOR inactivation arising from PDMP treatment.
  • ||||||||||  miglustat / Generic mfg.
    Review, Journal:  Neurodegeneration in Niemann-Pick Type C Disease: An Updated Review on Pharmacological and Non-Pharmacological Approaches to Counteract Brain and Cognitive Impairment. (Pubmed Central) -  Jul 22, 2021   
    Therefore, the combination of current pharmacological therapies, represented by miglustat and cyclodextrin, and non-pharmacological approaches, such as physical exercise and appropriate diet, could represent a strategy to improve the quality of life of NPC patients. Based on this evidence, in our review we focused on the neurodegenerative aspects of NPC disease, summarizing the current knowledge on the molecular and biochemical mechanisms responsible for cognitive impairment, and suggesting physical exercise and nutritional treatments as additional non-pharmacologic approaches to reduce the progression and neurodegenerative course of NPC disease.
  • ||||||||||  miglustat / Generic mfg., amantadine / Generic mfg.
    Journal:  Cell viability assay as a tool to study activity and inhibition of hepatitis C p7 channels. (Pubmed Central) -  Jul 16, 2021   
    The alkyl-chain iminosugars NB-DNJ, NN-DNJ and NN-DGJ were tested and their activity was found to be genotype-specific. In the current study, we introduce cell viability assays as a rapid and cost-efficient technique to assess viroporin activity and identify channel inhibitors as potential novel antiviral drugs.
  • ||||||||||  miglustat / Generic mfg.
    Journal:  Association of Miglustat With Swallowing Outcomes in Niemann-Pick Disease, Type C1. (Pubmed Central) -  Jun 26, 2021   
    These data suggest that miglustat use is associated with stabilized swallowing function and reduced aspiration risk in NPC1, thus supporting its use in this population. In addition, these data demonstrate that a quantification of swallowing dysfunction can be used as a clinically relevant, functional outcome measure in future therapeutic trials in NPC1.
  • ||||||||||  miglustat / Generic mfg.
    Biomarker, Clinical, Journal:  High diagnostic value of plasma Niemann-Pick type C biomarkers in adults with selected neurological and/or psychiatric disorders. (Pubmed Central) -  Jun 22, 2021   
    A specific treatment, miglustat, can stabilize the disease if given early...By contrast, false-positive rates were 8.1% and 5.7% for 7-KC and C-triol, respectively. We showed that selecting patients with neurologic and/or psychiatric symptoms consistent with NP-C for large-scale PSB screening is a simple and valid strategy to identify new adult NP-C patients, and would probably lead to earlier diagnosis and treatment administration if widely applied.
  • ||||||||||  miglustat / Generic mfg.
    Clinical, Journal:  Long-term normalization of cognitive and psychopathological alterations in a juvenile Niemann-Pick type C case. (Pubmed Central) -  Jun 16, 2021   
    We present the 5-year neuropsychological follow-up of a patient with juvenile onset NP-C, spanning the pre-diagnostic stage to the period after treatment with miglustat (Actelion Pharmaceuticals Inc., CA, US)...The variability of NP-C disease makes early diagnosis challenging. Evaluations of long-term neuropsychological development can help diagnose this neurodegenerative disease and document its progression.
  • ||||||||||  miglustat / Generic mfg.
    Preclinical, Journal:  Gender-Specific Effects of Two Treatment Strategies in a Mouse Model of Niemann-Pick Disease Type C1. (Pubmed Central) -  Apr 23, 2021   
    In a mouse model of Niemann-Pick disease type C1 (NPC1), a combination therapy (COMBI) of miglustat (MIGLU), the neurosteroid allopregnanolone (ALLO) and the cyclic oligosaccharide 2-hydroxypropyl-β-cyclodextrin (HPßCD) has previously resulted in, among other things, significantly improved motor function...Only in COMBI-treated male and female NPC mice were drug effects seen in reduced body and brain weights. Upon COMBI treatment, the increased dosage of drugs necessary for anesthesia in Sham-treated male and female NPC1 mice was almost completely reduced only in the female groups.
  • ||||||||||  NN1213 / Novo Nordisk
    Enrollment change:  Syner-G: Synergistic Enteral Regimen for Treatment of the Gangliosidoses (clinicaltrials.gov) -  Apr 14, 2021   
    P4,  N=16, Terminated, 
    Upon COMBI treatment, the increased dosage of drugs necessary for anesthesia in Sham-treated male and female NPC1 mice was almost completely reduced only in the female groups. N=30 --> 16
  • ||||||||||  miglustat / Generic mfg.
    [VIRTUAL] PREVALENCE OF NIEMANN-PICK DISEASE TYPE C (NPC) IN THE US () -  Apr 11, 2021 - Abstract #AMCP2021AMCP_87;    
    Given that NPC is often misdiagnosed or undiagnosed, the estimated prevalence from the epidemiology calculations (~2 per million) approximates the number of NPC cases if disease awareness, screening and diagnosis efforts were enhanced. Disease-modifying treatments for NPC are needed to address the high unmet need in this community.
  • ||||||||||  miglustat / Generic mfg.
    Journal:  Identification of Brain-Specific Treatment Effects in NPC1 Disease by Focusing on Cellular and Molecular Changes of Sphingosine-1-Phosphate Metabolism. (Pubmed Central) -  Mar 23, 2021   
    Here, we analyzed the sphingosine-1-phosphate (S1P)/S1P receptor (S1PR) axis in different brain regions of Npc1 mice and evaluated specific effects of treatment with 2-hydroxypropyl-β-cyclodextrin (HPβCD) together with the iminosugar miglustat...S1pr expression appears to be affected in human fibroblasts, induced pluripotent stem cells (iPSCs)-derived neural progenitor and neuronal differentiated cells. Nevertheless, treatment-induced side effects make examination of further treatment strategies indispensable.
  • ||||||||||  miglustat / Generic mfg.
    Journal:  Acetyl-leucine slows disease progression in lysosomal storage disorders. (Pubmed Central) -  Mar 20, 2021   
    When the standard of care drug miglustat and acetyl-dl-leucine were used in combination significant synergy resulted...A beneficial effect of acetyl-dl-leucine on gait was also observed in this study in a mouse model of GM2 gangliosidosis (Sandhoff disease) and in Tay-Sachs and Sandhoff disease patients in individual-cases of off-label-use. Taken together, we have identified an unanticipated neuroprotective effect of acetyl-l-leucine and underlying mechanisms of action in lysosomal storage diseases, supporting its further evaluation in clinical trials in lysosomal disorders.