miglustat / Generic mfg. 
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 0 Diseases   7 Trials   7 Trials   39 News 


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  • ||||||||||  Nypta (tideglusib) / ASD Therap, miglustat / Generic mfg.
    Journal:  Naringenin and SMER28 target lysosomal reformation and rescue SPG11 and SPG15 Hereditary Spastic Paraplegia phenotypes. (Pubmed Central) -  Jun 24, 2025   
    Their effects were compared with those of SMER28 and of miglustat, the latter tested in a phase II clinical trial in SPG11 patients, in both SPG15 and SPG11 patient's derived cells and in the corresponding Drosophila models...Both compounds induced lysosomal tubulation, downstream of mTOR, promoting lysosomal reformation. Our work indicates that lysosomal reformation is a good strategy for HSPs with impaired lysosomal function and identifies naringenin as new modulator of this process, offering further hand to planning phase II clinical trials in SPG11-SPG15 patients.
  • ||||||||||  Myozyme (alglucosidase alfa) / Sanofi, Nexviazyme (avalglucosidase alfa) / Sanofi, miglustat / Generic mfg.
    Journal, Real-world evidence:  Enzyme replacement therapies in adults with Pompe disease: from trials to real-world data. (Pubmed Central) -  Jun 5, 2025   
    Clinical trials and early real-world data suggest that they may be superior to alglucosidase alfa, the standard of care for the past 20?years, although head-to-head comparisons between all three treatments are lacking. More data will become available over the next 5 years, leading to better guidelines for starting, stopping and switching therapies based on a more personalized assessment of outcomes.
  • ||||||||||  Miplyffa (arimoclomol) / Orphazyme, Zevra Therap
    Journal:  Mechanistic insights into arimoclomol mediated effects on lysosomal function in Niemann-pick type C disease. (Pubmed Central) -  Apr 27, 2025   
    Arimoclomol, an orally available small molecule, is the first FDA-approved treatment for NPC when used in combination with miglustat...By also amplifying expression of CLEAR genes associated with autophagy, arimoclomol has the potential to act on different pathways and improve cell viability independent of NPC1 protein levels and functionality. In summary, the findings presented illustrate how arimoclomol improves lysosomal function and potentially autophagy flux to decrease lipid burden in NPC patient fibroblasts.
  • ||||||||||  Myozyme (alglucosidase alfa) / Sanofi, miglustat / Generic mfg., Cabaletta (trehalose) / Seelos Therap
    Journal:  Miglustat: A First-In-Class Enzyme Stabilizer for Late-Onset Pompe Disease (P10-2.012). (Pubmed Central) -  Apr 7, 2025   
    In a head-to-head study, cipa+mig had a similar safety profile to alglucosidase alfa...Dimachkie has received personal compensation in the range of $5,000-$9,999 for serving as a Consultant for Cabaletta Bio...Prof. parenti has nothing to disclose.
  • ||||||||||  miglustat / Generic mfg.
    Journal:  Hypometabolism and atrophy patterns associated with Niemann-Pick type C. (Pubmed Central) -  Feb 26, 2025   
    parenti has nothing to disclose. Our findings delineate a discernible hypometabolism pattern specific to NP-C that distinguishes it from other neurodegenerative conditions, thus suggesting that [18F]FDG PET might be a promising tool for NP-C diagnosis and to study disease progression.
  • ||||||||||  Pombiliti (cipaglucosidase alfa-atga) / Amicus
    Clinical, Journal:  Effect Size Analysis of Cipaglucosidase Alfa Plus Miglustat Versus Alglucosidase Alfa in ERT-experienced Adults with Late-onset Pompe Disease in PROPEL (S21.003). (Pubmed Central) -  Feb 20, 2025   
    P3
    The randomized, double-blind PROPEL study (ATB200-03; NCT03729362) compared the efficacy and safety of the investigational two-component enzyme replacement therapy (ERT) cipa+mig with alg plus placebo in adults with late-onset Pompe disease (LOPD); 77% of patients had received ERT with alg before study entry (median ERT duration 7.4 years)...Dimachkie has received personal compensation in the range of $500-$4,999 for serving as a Consultant for Cabaletta Bio...Dr. Mozaffar has received personal compensation in the range of $500-$4,999 for serving as a Study Section Member with NIH.
  • ||||||||||  Miplyffa (arimoclomol) / Orphazyme, Zevra Therap
    Review, Journal:  Arimoclomol: First Approval. (Pubmed Central) -  Jan 17, 2025   
    Mozaffar has received personal compensation in the range of $500-$4,999 for serving as a Study Section Member with NIH. Arimoclomol (MIPLYFFA
  • ||||||||||  Review, Journal:  Pompe disease: Unmet needs and emerging therapies. (Pubmed Central) -  Nov 13, 2024   
    Overall, switching treatment from alglucosidase alfa to cipa+mig positively impacted PRO measurements during the double-blind period of PROPEL. The approval of avalglucosidase alfa (Nexviazyme
  • ||||||||||  miglustat / Generic mfg.
    Clinical data, Journal:  Cipaglucosidase alfa plus miglustat: linking mechanism of action to clinical outcomes in late-onset Pompe disease. (Pubmed Central) -  Nov 4, 2024   
    Here, we investigate this hypothesis by analyzing published and new data related to the mechanism of action of the enzyme and stabilizer molecule. Based on an extensive collection of in vitro, preclinical, and clinical data, we conclude that cipaglucosidase alfa plus miglustat successfully addresses each of these challenges to offer meaningful advantages in terms of pharmacokinetic exposure, target-cell uptake, endolysosomal processing, and clinical benefit.
  • ||||||||||  miglustat / Generic mfg.
    NIEMANN-PICK TYPE C - INSIGHTS FROM 20 PATIENTS IN A PORTUGUESE REFERENCE CENTER (Poster Room | Level 0) -  Jul 30, 2024 - Abstract #SSIEM2024SSIEM_514;    
    Lower occurrence of adult-onset cases could be due to referral bias, as most came from a pediatric hospital. Initially, diagnosis relied on filipin staining, but diagnosis methods have evolved with the introduction of plasma biomarkers and genetic testing.
  • ||||||||||  miglustat / Generic mfg.
    COMBINED EFFECT OF KETOGENIC DIET THERAPY WITH MIGLUSTAT ON NIEMANN-PICK TYPE C (Poster Room | Level 0) -  Jul 30, 2024 - Abstract #SSIEM2024SSIEM_503;    
    Initially, diagnosis relied on filipin staining, but diagnosis methods have evolved with the introduction of plasma biomarkers and genetic testing. KDT in this patient with juvenil NPC has stabilized neurological manifestations.After itinitiation of KDT,patient's life quality and alertness increased, and reduction in hospital admissions observed.The concomitant use of miglustat and KDT in patients with NPC has been mentioned in only one case before.This case report may encourage further research on ketogenic diet in NPC patients.
  • ||||||||||  Cerdelga (eliglustat tartrate) / Sanofi
    HETEROGENEITY OF GAUCHER DISEASE PHENOTYPES IN PATIENTS WITH THE C.1880T>G (D409H) VARIANT IN GBA1. (Poster Room | Level 0) -  Jul 30, 2024 - Abstract #SSIEM2024SSIEM_487;    
    Heterozygous patients with neurological manifestations received miglustat in addition with ERT in 3 cases, and 3 receiving ambroxol... Comprehensive genetic sequencing is imperative for identifying detected combinations and offering appropriate genetic assessment.
  • ||||||||||  miglustat / Generic mfg.
    MIGLUSTAT: A FIRST-IN-CLASS ENZYME STABILISER FOR LATE-ONSET POMPE DISEASE (Poster Room | Level 0) -  Jul 30, 2024 - Abstract #SSIEM2024SSIEM_450;    
    In a head to-head study, cipa+mig had a similar safety profile to alglucosidase alfa. Stabilisation of cipa by mig in circulation improved cipa exposure, further reduced Hex4 levels and was well tolerated in clinical studies in patients with LOPD.
  • ||||||||||  miglustat / Generic mfg.
    ARIMOCLOMOL FOR THE TREATMENT OF NPC IN A REAL-WORLD SETTING: LONG-TERM OUTCOMES FROM AN EXPANDED ACCESS PROGRAM IN THE USA (Poster Room | Level 0) -  Jul 30, 2024 - Abstract #SSIEM2024SSIEM_444;    
    P
    Stabilisation of cipa by mig in circulation improved cipa exposure, further reduced Hex4 levels and was well tolerated in clinical studies in patients with LOPD. Long-term outcomes in a US EAP of arimoclomol indicate that treated patients experienced relatively stable disease over 1 and 2 years of treatment with lower disease progression observed in patients treated with arimoclomol and miglustat dual therapy.
  • ||||||||||  azasugar (AZ-3102) / Azafaros
    BLINDED SAFETY DATA OF NIZUBAGLUSTAT PHASE 2 STUDY FOR GM2 GANGLIOSIDOSIS AND NPC DISEASE (Poster Room | Level 0) -  Jul 30, 2024 - Abstract #SSIEM2024SSIEM_432;    
    This highlights the need to improve monitoring frequency and consistency for patients with LOPD. Background: Nizubaglustat (AZ-3102) is an orally available, brain-penetrant, highly potent, highly selective inhibitor of glucosylceramide synthase and non-lysosomal neutral glucosylceramidase...Also had to be miglustat na
  • ||||||||||  miglustat / Generic mfg.
    Journal:  Assessing the Potential of N-Butyl-l-deoxynojirimycin (l-NBDNJ) in Models of Cystic Fibrosis as a Promising Antibacterial Agent. (Pubmed Central) -  Jun 20, 2024   
    Mechanistic insights into the observed activity revealed that l-NBDNJ interferes with the expression of proteins regulating cytoskeleton assembly and organization of the host cell, downregulates the main virulence factors of P. aeruginosa involved in the host response, and affects pathogen adhesion to human cells. These findings along with the observation of the absence of an in vitro bacteriostatic/bactericidal action of l-NBDNJ suggest the potential use of this glycomimetic as an antivirulence agent in the management of CF lung disease.
  • ||||||||||  miglustat / Generic mfg.
    Journal, Video:  Video-Oculography Assessment in Neurodegenerative Ataxias and Niemann Pick Type C. (Pubmed Central) -  Jun 13, 2024   
    Our findings support that cerebellar pathology in degenerative ataxia patients is associated with both impaired saccadic velocity and smooth pursuit gain, whereas in NP-C, only the impaired vertical saccades as opposed to relatively preserved other eye movements are seemingly a diagnostic marker for the entity. We conclude that recording of eye movements could be useful for differential diagnosis and monitorization of the treatment of ataxia syndromes as an easy and objective method.
  • ||||||||||  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) -  Apr 16, 2024   
    P3,  N=30, Recruiting, 
    Trial primary completion date: Sep 2024 --> May 2024 Trial completion date: Dec 2023 --> Dec 2024 | Trial primary completion date: Dec 2023 --> Dec 2024
  • ||||||||||  miglustat / Generic mfg.
    Journal:  DJ-1 protects cell death from a mitochondrial oxidative stress due to GBA1 deficiency. (Pubmed Central) -  Mar 9, 2024   
    Taken together, our results suggest that DJ-1 upregulation due to GBA1 deficiency has a protective role against oxidative stress. It may be supposed that mutations or malfunctions in the DJ-1 protein may have disadvantages in the survival of dopaminergic neurons in the brains of patients harboring GBA1 mutations.
  • ||||||||||  miglustat / Generic mfg.
    Supranuclear Palsy as an Initial Presentation of the Adult-onset Niemann-Pick Type C (Colorado Convention Center | Exhibit Hall B-E) -  Mar 8, 2024 - Abstract #AAN2024AAN_2461;    
    NP-C should be considered in an adult patient who develops supranuclear palsy, particularly when parkinsonism is not present, as in Progressive Supranuclear Palsy. While no cure exists for NP-C, timely diagnosis and treatment can improve a patient's quality of life by slowing the progression of the disease.
  • ||||||||||  Pombiliti (cipaglucosidase alfa-atga) / Amicus
    Enrollment open, Trial completion date, Trial primary completion date:  A Global Prospective Observational Registry of Patients With Pompe Disease (clinicaltrials.gov) -  Mar 5, 2024   
    P=N/A,  N=500, Recruiting, 
    In addition, further optimization of the treatment protocol and additional treatments are needed to improve patient outcomes. Not yet recruiting --> Recruiting | Trial completion date: Nov 2033 --> Dec 2034 | Trial primary completion date: Nov 2033 --> Dec 2034
  • ||||||||||  miglustat / Generic mfg.
    Journal:  Stabilization of the Metastable Pre-Fusion Conformation of the SARS-CoV-2 Spike Glycoprotein through N-Linked Glycosylation of the S2 Subunit. (Pubmed Central) -  Feb 28, 2024   
    Using the ?-glycosidase inhibitors castanospermine and NB-DNJ, we confirmed that disruption of N-linked glycosylation blocked the maturation of the S protein, leading to the impairment of S protein-mediated membrane fusion...Therefore, N-glycans on the SARS-CoV and SARS-CoV-2 S2 subunits are highly important for maintaining the pre-fusion state of the S protein. This study revealed the critical roles of N-glycans in S protein maturation and stability, information that has implications for the design of vaccines and antiviral strategies.
  • ||||||||||  Xenpozyme (olipudase alfa) / Sanofi
    Review, Journal:  The Genetic Basis, Lung Involvement, and Therapeutic Options in Niemann-Pick Disease: A Comprehensive Review. (Pubmed Central) -  Feb 28, 2024   
    The only approved disease-modifying therapy in NPD type C is miglustat, a substrate-reduction treatment. The aim of this review was to delineate a state of the art on the genetic basis and lung involvement in NPD, focusing on clinical manifestations, radiologic and histopathologic characteristics of the disease, and available therapeutic options, with a gaze on future therapeutic strategies.