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  • ||||||||||  Galafold (migalastat) / Amicus
    Journal:  Pathogenicity of novel GLA gene missense mutations in Fabry disease and the therapeutic impact of migalastat. (Pubmed Central) -  Mar 23, 2025   
    This study reports 13 newly identified mutation sites in the GLA gene for Fabry disease, including nine definite pathogenic mutations and four missense mutations confirmed to be pathogenic in this study, thereby enriching the Fabry disease gene mutation database. Migalastat intervention improved enzyme activity in these mutation models, especially in cases with minor changes in protein structure and function, which are expected to guide clinical treatment.
  • ||||||||||  Pombiliti (cipaglucosidase alfa-atga) / Amicus
    Trial completion, Trial completion date:  A Study to Assess the Long-term Safety and Efficacy of ATB200/AT2221 in Adult Subjects With LOPD (clinicaltrials.gov) -  Mar 20, 2025   
    P3,  N=119, Completed, 
    Migalastat intervention improved enzyme activity in these mutation models, especially in cases with minor changes in protein structure and function, which are expected to guide clinical treatment. Active, not recruiting --> Completed | Trial completion date: Dec 2026 --> Dec 2024
  • ||||||||||  Galafold (migalastat) / Amicus
    Review, Journal:  Status and frontiers of Fabre disease. (Pubmed Central) -  Mar 13, 2025   
    The use of Migalastat as chaperone therapy has been approved in many countries, and it plays a therapeutic role by enhancing enzyme activity...Due to the limitations of existing therapeutic drugs, researchers have begun to explore new therapeutic drugs for Fabry disease, so new pathogenic mechanisms and adjuvant therapeutic drugs have been continuously discovered, and the development of related drugs will contribute to disease control and treatment. This article summarizes the existing and potential drugs for treating Fabry disease to facilitate the selection of suitable and effective drugs for treatment.
  • ||||||||||  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.
  • ||||||||||  Plicera (afegostat tartrate) / Amicus
    Journal:  An isofagomine analogue with an amidine group in the 1,6-position. (Pubmed Central) -  Feb 20, 2025   
    Density functional theory calculations showed that this compound has a remarkably different charge distribution compared with isofagomine. This may explain why the amidine is a poor glycosidase inhibitor (IC50 > 50
  • ||||||||||  Galafold (migalastat) / Amicus
    Trial completion date, Trial primary completion date:  A Study to Evaluate Migalastat in Fabry Subjects With Amenable GLA Variant and Renal Disease (clinicaltrials.gov) -  Jan 22, 2025   
    P3,  N=14, Recruiting, 
    It is important to account for these characteristics in ITCs to ensure unbiased outcomes. Trial completion date: Dec 2025 --> Dec 2026 | Trial primary completion date: Dec 2024 --> Dec 2026
  • ||||||||||  Galafold (migalastat) / Amicus
    Fabry Disease Variants Amenable to Chaperone Therapy in a Large CKD Population (In-Person; Room: 207) -  Jan 20, 2025 - Abstract #NKFSCM2025NKF_SCM_36;    
    Early treatment of FD is crucial, and options include intravenous enzyme replacement therapy or oral chaperone therapy (e.g., migalastat)...Patients with GLA amenable variants are known to have milder disease presentation, which may explain the lower rate of clinical suspicion of FD observed prior to genetic testing. As such, broad genetic testing can identify a molecular diagnosis of FD in these patients and enable tailored treatment with chaperone therapy.
  • ||||||||||  Pombiliti (cipaglucosidase alfa-atga) / Amicus
    Trial completion date:  A Study to Assess the Long-term Safety and Efficacy of ATB200/AT2221 in Adult Subjects With LOPD (clinicaltrials.gov) -  Jan 14, 2025   
    P3,  N=110, Active, not recruiting, 
    As such, broad genetic testing can identify a molecular diagnosis of FD in these patients and enable tailored treatment with chaperone therapy. Trial completion date: Dec 2024 --> Dec 2026
  • ||||||||||  Review, Journal:  What is confirmed in the treatment of Fabry's disease? (Pubmed Central) -  Dec 10, 2024   
    NCT03729362; trial start date: December 4, 2018.Trial registration number. The treatment comprises enzyme replacement therapy (ERT), agalsidase alfa, 0.2?mg/kg body weight (BW), agalsidase beta 1.0?mg/kg BW or pegunigalsidase alfa 1.0?mg/kg BW every 2
  • ||||||||||  Galafold (migalastat) / Amicus, Fabrazyme (agalsidase beta) / Sanofi
    Clinical data, Journal:  Clinical outcomes in patients switching from agalsidase beta to migalastat: A Fabry Registry analysis. (Pubmed Central) -  Nov 14, 2024   
    Ultimately, eGFR and GL-3 trajectories worsened postswitch across phenotypes, while UPCR and cardiac measures worsened among classic and stabilized/improved among late-onset patients. These findings indicate variability in long-term outcomes after switching from ERT to migalastat, underscoring the importance of careful monitoring.
  • ||||||||||  AT-GTX-502 / Amicus
    Journal:  Genetic and Cellular Basis of Impaired Phagocytosis and Photoreceptor Degeneration in CLN3 Disease. (Pubmed Central) -  Nov 14, 2024   
    CLN3 Batten disease (also known as juvenile neuronal ceroid lipofuscinosis) is a lysosomal storage disorder that typically initiates with retinal degeneration but is followed by seizure onset, motor decline and premature death...CLN3?7-8/?7-8 mutation (which affects ?85% of patients) affects both RPE and POS and leads to photoreceptor cell loss in CLN3 disease. Furthermore, both primary RPE dysfunction and mutant POS independently contribute to impaired POS phagocytosis in CLN3 disease.
  • ||||||||||  Review, Journal:  Pompe disease: Unmet needs and emerging therapies. (Pubmed Central) -  Nov 13, 2024   
    Furthermore, both primary RPE dysfunction and mutant POS independently contribute to impaired POS phagocytosis in CLN3 disease. The approval of avalglucosidase alfa (Nexviazyme
  • ||||||||||  Galafold (migalastat) / Amicus
    Journal:  Biochemical Amenability in Fabry Patients Under Chaperone Therapy-How and When to Test? (Pubmed Central) -  Nov 2, 2024   
    The optimal time for enzymatic AGAL activity measurement in migalastat-treated patients appears to be 24 h after the last migalastat intake. Since migalastat is a competitive inhibitor of AGAL, enzymatic AGAL activity measurements should be better performed from PBMCs to reduce migalastat-mediated interferences.
  • ||||||||||  Galafold (migalastat) / Amicus, venglustat (GZ402671) / Sanofi, Replagal (agalsidase alfa) / Samaritan Pharma, Takeda
    Journal:  2024 Update of the TSOC Expert Consensus of Fabry Disease. (Pubmed Central) -  Sep 23, 2024   
    Recent advances in pharmacological approach including enzyme replacement therapy (agalsidase alfa or beta), oral chaperone therapy (migalastat), and substrate reduction therapy (venglustat) aim to prevent from irreversible organ damage. Genotype- and gender-based monitoring of treatment effects through biomarker (Lyso-Gb3), renal assessment, and cardiac responses using advanced imaging modalities are key steps to optimizing patient care in FD.
  • ||||||||||  lucerastat (ACT-434964) / Idorsia
    Lucerastat Effect on Kidney Function in Patients with Fabry Disease: Results from the Phase 3 Clinical Program (Exhibit Hall, Convention Center) -  Sep 23, 2024 - Abstract #KIDNEYWEEK2024KIDNEY_WEEK_4141;    
    P3
    Genotype- and gender-based monitoring of treatment effects through biomarker (Lyso-Gb3), renal assessment, and cardiac responses using advanced imaging modalities are key steps to optimizing patient care in FD. GCS inhibition with lucerastat might be a novel approach to stabilize or slow the progression of kidney dysfunction, a major therapeutic goal in patients with Fabry disease.
  • ||||||||||  Galafold (migalastat) / Amicus, Elfabrio (pegunigalsidase alfa-iwxj) / Protalix, Chiesi, Replagal (agalsidase alfa) / Samaritan Pharma, Takeda
    Review, Journal:  Establishing Treatment Effectiveness in Fabry Disease: Observation-Based Recommendations for Improvement. (Pubmed Central) -  Sep 14, 2024   
    We recommend international collaboration and harmonization, facilitated by an independent FD registry. We propose a stepwise approach for evaluating the effectiveness of novel treatments, including recommendations for surrogate outcomes and required study duration.
  • ||||||||||  Plicera (afegostat tartrate) / Amicus
    Journal:  A concise synthetic approach for isoiminosugars. (Pubmed Central) -  Sep 9, 2024   
    The key step relies on a stereospecific 1,2-hydride shift in O-2 tosylated glycopyranosides leading to C-2 branched glycofuranosides. This approach enables a 4-step synthesis of powerful ?-galactosidase inhibitor 4-epi-isofagomine starting from a simple d-glucopyranoside.
  • ||||||||||  Plicera (afegostat tartrate) / Amicus
    Journal:  Bioinformatic, Enzymatic, and Structural Characterization of Trichuris suis Hexosaminidase HEX-2. (Pubmed Central) -  Aug 6, 2024   
    HEX-2 has an almost neutral pH optimum and is best inhibited by GalNAc-isofagomine...Its X-ray crystal structure, the first of any subfamily 1 GH20 hexosaminidase to be determined, is closest to Streptococcus pneumoniae GH20C and the active site is predicted to be compatible with accommodating both GalNAc and GlcNAc. The new structure extends our knowledge about this large enzyme family, particularly as T. suis HEX-2 also possesses the key glutamate residue found in human hexosaminidases of either GH20 subfamily, including HEXD whose biological function remains elusive.
  • ||||||||||  Galafold (migalastat) / Amicus
    A 4-YEAR EXPERIENCE OF MIGALASTAT TREATMENT IN FAMILIAL CASES WITH CLASSIC FABRY DISEASE (Poster Room | Level 0) -  Jul 30, 2024 - Abstract #SSIEM2024SSIEM_580;    
    4-year migalastat switch therapy in familial cases showed a different efficacy in biomarkers, Gb3 and lyso-Gb3. Despite the reliability of plasma lyso-Gb3 as a therapeutic response biomarker remains unclear so far, longterm observational data in real-world is warranted.
  • ||||||||||  Galafold (migalastat) / Amicus
    Journal:  Complex management of Fabry cardiomyopathy: a case report on the use of alcohol septal ablation and chaperone therapy. (Pubmed Central) -  Jul 18, 2024   
    The present case illustrates the complex clinical pathway of a patient with HOCM due to FD, where multimodality imaging was instrumental from differential diagnosis to therapeutic choices, which addressed both the pathogenic background and the organ involvement. Although at the moment the number of patients with of FD cardiomyopathy undergoing LVOTO reduction therapies is scarce, current recommendations should be extended to also include these patients.
  • ||||||||||  Galafold (migalastat) / Amicus
    Journal:  Fabry disease enzyme enhancement on migalastat study: FEES. (Pubmed Central) -  Jul 13, 2024   
    Although at the moment the number of patients with of FD cardiomyopathy undergoing LVOTO reduction therapies is scarce, current recommendations should be extended to also include these patients. In the 12 patients with paired data, there was a median enzyme enhancement of 17.4 (relative change
  • ||||||||||  Galafold (migalastat) / Amicus
    Review, Journal:  A systematic review on safety and efficacy of Migalastat for the treatment of Fabry's disease. (Pubmed Central) -  Jun 7, 2024   
    Migalastat showed varied effects on enzyme activity and substrate levels, with gender-specific differences noted in GL-3 substrate activity and eGFR. Overall, it improved cardiac and renal outcomes similarly to enzyme replacement therapy, with a comparable safety profile.