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0 Diseases |  |
7 Trials |
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7 Trials |  |
39 News |  |
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- || Miplyffa (arimoclomol) / Orphazyme, Zevra Therap
Review, Journal: Arimoclomol: First Approval. (Pubmed Central) - Jan 17, 2025
Arimoclomol (MIPLYFFA
- | Pombiliti (cipaglucosidase alfa-atga) / Amicus, Myozyme (alglucosidase alfa) / Sanofi, miglustat / Generic mfg.
Journal: Challenges in multinational rare disease clinical studies during COVID-19: regulatory assessment of cipaglucosidase alfa plus miglustat in adults with late-onset Pompe disease. (Pubmed Central) - Jan 12, 2025
P3
Both statistical analysis approaches led to similar results and consistent conclusions, confirming the efficacy of cipa?+?mig for adults with LOPD. NCT03729362; trial start date: December 4, 2018.Trial registration number.
- | dipyridamole / Generic mfg.
Preclinical, Journal: Dipyridamole Ameliorates Memory Impairment and Increases Hippocampal Calbindin Expression in Niemann Pick C1 Mice. (Pubmed Central) - Dec 24, 2024
Our results demonstrated that DIP selectively ameliorates the cognitive impairment in NPC1 mice. This drug could thus represent a valuable therapeutic tool to be used in combination with other treatments in NPC1.
- | miglustat / Generic mfg.
Retrospective data, Journal: Splenomegaly and progressive neurologic involvement: Think about Niemann-Pick type C disease. (Pubmed Central) - Dec 19, 2024
Niemann-Pick type C disease should be considered in the presence of visceral organ involvement and progressive neurological findings. It is essential to support the diagnosis with laboratory and genetic analysis.
- || miglustat / Generic mfg.
P4 data, Journal: 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. (Pubmed Central) - Dec 4, 2024
P4
Safety findings were consistent with miglustat's known safety profile. The study was registered at ClinicalTrials.gov (NCT03910621).
- | miglustat / Generic mfg.
Journal: Miglustat as Disease-Modifying Therapy in a Patient with SCARB2-Related Action Myoclonus Renal Failure. (Pubmed Central) - Nov 15, 2024
The study was registered at ClinicalTrials.gov (NCT03910621). No abstract available
- || miglustat / Generic mfg.
Clinical, Journal, Patient reported outcomes: Switching treatment to cipaglucosidase alfa plus miglustat positively affects patient-reported outcome measures in patients with late-onset Pompe disease. (Pubmed Central) - Nov 14, 2024
P3
No abstract available Overall, switching treatment from alglucosidase alfa to cipa+mig positively impacted PRO measurements during the double-blind period of PROPEL.
- || 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
- Nexviazyme (avalglucosidase alfa) / Sanofi
Indirect Treatment Comparison (ITC) of Avalglucosidase Alfa (AVA) vs Cipaglucosidase Alfa Plus Miglustat (Cipa+mig) in Late-Onset Pompe Disease (LOPD): An Updated Analysis Using Mixed-Model Repeated Measures (MMRM) Data () - Nov 4, 2024 - Abstract #ISPOREU2024ISPOR_EU_1720;
P1, P1/2,
Using the same MMRM analysis across different data sources, AVA demonstrated favorable respiratory function and mobility outcomes in patients with LOPD. The data are consistent and more favorable for AVA compared to the previous ITC analyses, with statistically significant results in treatment-nai?ve patients, and further support the comparative efficacy of AVA vs Cipa+mig.
- || 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.
Retrospective data, Review, Journal: Comparing the efficacy of cipaglucosidase alfa plus miglustat with other enzyme replacement therapies for late-onset Pompe disease: a network meta-analysis utilizing patient-level and aggregate data. (Pubmed Central) - Sep 25, 2024
Until recently, standard of care was enzyme replacement therapy (ERT) with alglucosidase alfa. Second-generation ERTs avalglucosidase alfa (aval) and cipaglucosidase alfa with miglustat (cipa+mig) are now available...Analysis of network A showed that cipa+mig was associated with a relative decrease in 6MWD (-10.02
- || Pombiliti (cipaglucosidase alfa-atga) / Amicus
Trial completion: First-In-Human Study to Evaluate Safety, Tolerability, and PK of Intravenous ATB200 Alone and When Co-Administered With Oral AT2221 (clinicaltrials.gov) - Aug 23, 2024
P1/2, N=32, Completed, Sponsor: Amicus Therapeutics
Second-generation ERTs avalglucosidase alfa (aval) and cipaglucosidase alfa with miglustat (cipa+mig) are now available...Analysis of network A showed that cipa+mig was associated with a relative decrease in 6MWD (-10.02 Active, not recruiting --> Completed
- miglustat / Generic mfg.
LONG-TERM EFFICACY AND SAFETY EVALUATION OF ARIMOCLOMOL TREATMENT IN PATIENTS WITH NIEMANN PICK TYPE C (Poster Room | Level 0) - Aug 21, 2024 - Abstract #SSIEM2024SSIEM_1106;
P2/3
The rate of disease progression in patients treated with arimoclomol was comparable between the DB phase and the OLE phase. Arimoclomol was well tolerated with no new safety signals observed.
- miglustat / Generic mfg.
POST-BASELINE OUTCOMES OF THE UK EARLY ACCESS TO MEDICINES SCHEME REGISTRY FOR CIPAGLUCOSIDASE ALFA PLUS MIGLUSTAT IN LATE-ONSET POMPE DISEASE (Poster Room | Level 0) - Aug 21, 2024 - Abstract #SSIEM2024SSIEM_1104;
Limited available data and variable times between BL and post-BL assessments made statistical analyses and conclusions challenging. This highlights the need to improve monitoring frequency and consistency for patients with LOPD.
- | miglustat / Generic mfg.
Preclinical, Journal: Differently increased volumes of multiple brain areas in Npc1 mutant mice following various drug treatments. (Pubmed Central) - Jul 31, 2024
This highlights the need to improve monitoring frequency and consistency for patients with LOPD. Npc1-/- mice receiving a combined therapy (COMBI) of miglustat (MIGLU), the neurosteroid allopregnanolone (ALLO) and the cyclic oligosaccharide 2-hydroxypropyl-?-cyclodextrin (HP
- miglustat / Generic mfg.
ARIMOCLOMOL SAFETY PROFILE IN THE TREATMENT OF NPC IN A REAL-WORLD SETTING: LONG-TERM DATA FROM AN EXPANDED ACCESS PROGRAM IN THE USA (Poster Room | Level 0) - Jul 30, 2024 - Abstract #SSIEM2024SSIEM_516;
P
Over an average of 2 years of treatment, arimoclomol was generally well tolerated. Similar levels of adverse events were observed in patients treated with arimoclomol monotherapy and arimoclomol plus miglustat dual therapy
- 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.
- miglustat / Generic mfg.
LONG-TERM EFFICACY AND SAFETY EVALUATION OF ARIMOCLOMOL TREATMENT IN PATIENTS WITH NIEMANN PICK TYPE C (Poster Room | Level 0) - Jul 30, 2024 - Abstract #SSIEM2024SSIEM_440;
P2/3
The rate of disease progression in patients treated with arimoclomol was comparable between the DB phase and the OLE phase. Arimoclomol was well tolerated with no new safety signals observed.
- miglustat / Generic mfg.
POST-BASELINE OUTCOMES OF THE UK EARLY ACCESS TO MEDICINES SCHEME REGISTRY FOR CIPAGLUCOSIDASE ALFA PLUS MIGLUSTAT IN LATE-ONSET POMPE DISEASE (Poster Room | Level 0) - Jul 30, 2024 - Abstract #SSIEM2024SSIEM_439;
Limited available data and variable times between BL and post-BL assessments made statistical analyses and conclusions challenging. This highlights the need to improve monitoring frequency and consistency for patients with LOPD.
- 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.
Journal: Glycosylation Modulation Dictates Trafficking and Interaction of SARS-CoV-2 S1 Subunit and ACE2 in Intestinal Epithelial Caco-2 Cells. (Pubmed Central) - May 24, 2024
The data show a substantial reduction in the interactions between the altered glycosylation forms of S1 and ACE2 in the presence of NB-DNJ, while varied outcomes resulted from dMM treatment. These results highlight the promising effects of NB-DNJ and its potential use as an off-label drug to treat SARS-CoV-2 infections.
- miglustat / Generic mfg.
Trial primary completion date: BBDF101-01: An Open-label Safety, Pharmacokinetic, and Efficacy Study of Miglustat for the Treatment of CLN3 Disease (clinicaltrials.gov) - Apr 25, 2024
P1/2, N=6, Active, not recruiting, Sponsor: Beyond Batten Disease Foundation
These results highlight the promising effects of NB-DNJ and its potential use as an off-label drug to treat SARS-CoV-2 infections. Trial primary completion date: Sep 2024 --> May 2024
- | 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, Sponsor: Tehran University of Medical Sciences
Trial primary completion date: Sep 2024 --> May 2024 Trial completion date: Dec 2023 --> Dec 2024 | Trial primary completion date: Dec 2023 --> Dec 2024
- Myozyme (alglucosidase alfa) / Sanofi
Effect size analysis of cipaglucosidase alfa plus miglustat vs alglucosidase alfa in enzyme replacement therapy () - Apr 9, 2024 - Abstract #AMCP2024AMCP_337;
- | Pombiliti (cipaglucosidase alfa-atga) / Amicus
Trial completion date, Trial primary completion date: First-In-Human Study to Evaluate Safety, Tolerability, and PK of Intravenous ATB200 Alone and When Co-Administered With Oral AT2221 (clinicaltrials.gov) - Apr 4, 2024
P1/2, N=32, Active, not recruiting, Sponsor: Amicus Therapeutics
Trial completion date: Dec 2023 --> Dec 2024 | Trial primary completion date: Dec 2023 --> Dec 2024 Trial completion date: Dec 2023 --> Jun 2024 | Trial primary completion date: Dec 2023 --> Jun 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.
- Myozyme (alglucosidase alfa) / Sanofi
Effect Size Analysis of Cipaglucosidase Alfa Plus Miglustat Versus Alglucosidase Alfa in ERT-experienced Adults with Late-onset Pompe Disease in PROPEL (Colorado Convention Center | Four Seasons 1) - Mar 8, 2024 - Abstract #AAN2024AAN_3787;
P3
This analysis shows that ERT-experienced patients with LOPD who switched from alg to cipa+mig treatment achieved improvements in a number of outcomes, highlighting the potential of cipa+mig to become an important treatment option for these patients. Sponsored by Amicus Therapeutics Inc.
- 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.
- | miglustat / Generic mfg.
Journal: Long-term efficacy of intrathecal cyclodextrin in patients with Niemann-Pick disease type C. (Pubmed Central) - Mar 6, 2024
Awareness of the disease and newborn screening is needed for earlier disease detection. In addition, further optimization of the treatment protocol and additional treatments are needed to improve patient outcomes.
- |||||| 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, Sponsor: Amicus Therapeutics
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.
- | miglustat / Generic mfg.
Journal: Mitochondrial dysfunction in NPC1-deficiency is not rescued by drugs targeting the glucosylceramidase GBA2 and the cholesterol-binding proteins TSPO and StARD1. (Pubmed Central) - Feb 28, 2024
We examined two potential protein targets-translocator protein (TSPO) and steroidogenic acute regulatory protein D1 (StARD1)-which are implicated in cholesterol transport to mitochondria, in addition to glucocerbrosidase 2 (GBA2), the target of miglustat, which is currently the only approved treatment for NPCD. However, inhibiting these proteins did not correct the mitochondrial defect in NPC1-deficient cells.
- | Cerdelga (eliglustat tartrate) / Sanofi
Journal: Eliglustat exerts anti-fibrotic effects by activating SREBP2 in TGF-?1-treated myofibroblasts derived from patients with idiopathic pulmonary fibrosis. (Pubmed Central) - Feb 19, 2024
These results suggested that eliglustat exerts its anti-fibrotic effects through SREBP2 activation. The findings of this study may contribute to the development of novel therapeutic strategies for IPF treatment.
- | miglustat / Generic mfg.
Journal: A case report of Tangier disease presents with acute sensorimotor polyneuropathy and its treatment approach. (Pubmed Central) - Jan 4, 2024
Due to the accumulation of cholesterol esters in Schwann cells, it could provoke polyneuropathy in TD. Our case presented to our clinic with quadriparesis and after treated with miglustat therapy his weakness regressed.
- | Galafold (migalastat) / Amicus
Preclinical, Journal: Development of iminosugar-based glycosidase inhibitors as drug candidates for SARS-CoV-2 virus via molecular modelling and in (Pubmed Central) - Dec 12, 2023
As our iminosugar-based drug candidates act by a host-directed mechanism, they should be more resilient to drug resistance. Moreover, this strategy could be extended to identify potential drug candidates for other viral infections.
- || Myozyme (alglucosidase alfa) / Sanofi, Nexviazyme (avalglucosidase alfa) / Sanofi, VAL-1221 / Valerion
Review, Journal: Enzyme replacement therapy for late-onset Pompe disease. (Pubmed Central) - Dec 12, 2023
The impact of ERT on some outcomes remains unclear, and longer RCTs are needed to generate relevant information due to the progressive nature of LOPD. Alternative resources, such as post-marketing registries, could capture some of this information.
- |||||| Pombiliti (cipaglucosidase alfa-atga) / Amicus
New trial: A Global Prospective Observational Registry of Patients With Pompe Disease (clinicaltrials.gov) - Nov 6, 2023
P=N/A, N=500, Not yet recruiting, Sponsor: Amicus Therapeutics
- || ambroxol oral / Generic mfg., miglustat / Generic mfg.
Clinical, Clinical data, Retrospective data, Journal, Real-world evidence, Real-world: Clinical Outcomes of Patients with Chronic Neuropathic Form of Gaucher Disease in the Spanish Real-World Setting: A Retrospective Study. (Pubmed Central) - Oct 28, 2023
Visceral manifestations, including hepatosplenomegaly and hematological and bone manifestations, were mostly controlled with ERT, except for kyphosis. The data from this study may help to increase the evidence base on this rare disease and contribute to improving the clinical management of GD3 patients.
- | miglustat / Generic mfg.
Journal: Glycosphingolipids linked to elevated neurotransmission and neurodegeneration in a Drosophila model of Niemann Pick Type C. (Pubmed Central) - Oct 14, 2023
Glucosylceramide (GlcCer) synthase inhibition with miglustat prevented elevated neurotransmission in Npc1a and brn mutants, further suggesting epistasis...Glycosphingolipid synthesis mutants also have greatly heightened neurodegeneration, with similar neurodegeneration in npc1a;brn double mutants, again suggesting that npc1a and brn function in the same pathway. These findings indicate causal links between glycosphingolipid-dependent neurotransmission and neurodegeneration in this NPC disease model.
- | miglustat / Generic mfg.
Journal: Psychiatric burden in a cohort of adults with Niemann Pick type C disease: from psychotic symptoms to frontal lobe behavioral disorders. (Pubmed Central) - Sep 27, 2023
We report a high frequency of psychiatric symptoms in NP-C encompassing acute psychotic manifestations, often presenting early in the course of the disease with atypical features. We also report disabling behavioral manifestations related to frontal dysfunction.
- | miglustat / Generic mfg.
Journal: Argentinean Consensus on the Diagnosis and Treatment of Niemann- Pick Disease Type C (Pubmed Central) - Aug 19, 2023
The last few years have seen considerable progress in understanding this disease and its management. In this consensus, current approaches to the diagnosis, follow-up and treatment of NPC (including the use of miglustat, the only specific drug approved at the time) are discussed by an Argentinian panel of experts.
- | miglustat / Generic mfg.
Preclinical, Journal: Loss of Flot2 expression in deep cerebellar nuclei neurons of mice with Niemann-Pick disease type C. (Pubmed Central) - Aug 4, 2023
Moreover, N-acetyl l-leucine (NALL), an experimental medicine for NPC, recovered Flot2 expression. Therefore, our data suggest that in Npc1 mice, GM2 sequestration and the loss of lipid rafts lead to cell dysfunction and symptoms of NPC.
- | miglustat / Generic mfg.
Retrospective data, Journal: Effects of miglustat therapy on neurological disorder and survival in early-infantile Niemann-Pick disease type C: a national French retrospective study. (Pubmed Central) - Jul 26, 2023
Therefore, our data suggest that in Npc1 mice, GM2 sequestration and the loss of lipid rafts lead to cell dysfunction and symptoms of NPC. Miglustat allowed no significant long-term neurodevelopmental improvement nor significant increase of survival in patients with early infantile NP-C.