Galafold (migalastat) / GSK, Amicus - LARVOL DELTA

Real-World Migalastat Use in Fabry Disease: Comparative Insights From the Pisani and Hughes Studies. (PubMed, J Inherit Metab Dis) - No abstract available

Journal • Real-world evidence • Fabry Disease • Genetic Disorders

Clinical Efficacy and Real-World Effectiveness of Fabry Disease Treatments: A Systematic Literature Review. (PubMed, J Clin Med) - "Enzyme replacement therapy (ERT) with agalsidase alfa or agalsidase beta stabilized renal function and cardiac structure in patients with Fabry disease...Patients treated with migalastat and pegunigalsidase alfa also maintained stable renal function and cardiac structure. Overall, current treatments slow the progression of renal and cardiac decline in patients with Fabry disease. Large cohort studies with long-term follow-up and baseline stratification based on clinical phenotype are needed to address evidence gaps and provide clinicians with robust data to inform treatment decisions."

Journal • Real-world evidence • Review • Fabry Disease • Genetic Disorders • Lysosomal Storage Diseases • Metabolic Disorders • Rare Diseases

Navigating Fabry Disease in a Military Aviator. (PubMed, Aerosp Med Hum Perform) - "FD is a rare, progressive genetic disorder caused by galactosidase alpha gene variants, resulting in alpha-Gal A deficiency and glycosphingolipid accumulation, leading to neurological, renal, cardiac, and cerebrovascular complications. Despite higher aeromedical risks, especially due to stroke and cerebrovascular issues, FD patients may qualify for restricted flight duties under close monitoring and multidisciplinary care. Continued evaluation of novel therapies and individualized aeromedical waivers can support aviators with FD while balancing safety and operational requirements. Carlock T, Kincaid-Sharp E, Orsello C, Ford AW, El-Khoury BB. Navigating Fabry disease in a military aviator. Aerosp Med Hum Perform. 2025; 96(6):525-529."

Journal • Cardiovascular • Fabry Disease • Genetic Disorders • Lysosomal Storage Diseases • Metabolic Disorders • Nephrology • Rare Diseases • Renal Disease • GLA

Current treatment status of fabry disease in South Korea: a longitudinal National health insurance service data-based study. (PubMed, Orphanet J Rare Dis) - "Our study showed the current treatment status and clinical outcomes in patients with FD in South Korea. Prior to the diagnosis of FD, a considerable number of patients had already reached ESKD, suggesting a lack of awareness of FD among clinicians. Given the higher mortality rate observed in patients with FD and accompanying ESKD, the necessity to improve awareness of FD is highlighted to facilitate early diagnosis."

Journal • Reimbursement • US reimbursement • Cardiovascular • Chronic Kidney Disease • CNS Disorders • Fabry Disease • Genetic Disorders • Heart Failure • Lysosomal Storage Diseases • Metabolic Disorders • Nephrology • Rare Diseases • Renal Disease • Vascular Neurology

Hypertrophic Cardiomyopathy and Phenocopies: New Therapies for Old Diseases-Current Evidence and Future Perspectives. (PubMed, J Clin Med) - "In particular, many chemotherapy agents (alkylating agents, proteasome inhibitors, immunomodulatory drugs, and monoclonal antibodies targeting clonal cells) allowing one to treat AL amyloidosis, transthyretin stabilizers (tafamidis and acoramidis), and gene silencers (patisiran and vutrisiran) are available in transthyretin cardiac amyloidosis, and enzyme replacement therapies (agalsidase-alpha, agalsidase-beta, and pegunigalsidase-alpha) or oral chaperone therapy (migalastat) can be used in Anderson-Fabry disease. In addition, the introduction of cardiac myosin inhibitors (mavacamten and aficamten) has deeply modified the treatment of hypertrophic obstructive cardiomyopathy. The aim of this review is to describe the new disease-modifying treatments available in HCM and phenocopies in light of current scientific evidence."

Journal • Review • Amyloidosis • Cardiac Amyloidosis • Cardiomyopathy • Cardiovascular • Fabry Disease • Gene Therapies • Genetic Disorders • Hypertrophic Cardiomyopathy • Obstructive Hypertrophic Cardiomyopathy • Rare Diseases

A Kidney Transplant Recipient Treated With Migalastat for Fabry Disease for 33 Months. (PubMed, Exp Clin Transplant) - "After 33 months of migalastat therapy, renal function remained stable, left ventricular hypertrophy resolved, and no progression of cerebral white matter lesions was observed. Thus, migalastat was shown as a well-tolerated and effective therapeutic option for Fabry disease in kidney transplant recipients with amenable GLA mutations."

Journal • Cardiovascular • Chronic Kidney Disease • Fabry Disease • Genetic Disorders • Lysosomal Storage Diseases • Metabolic Disorders • Nephrology • Otorhinolaryngology • Pain • Rare Diseases • Renal Disease • Transplantation • Vertigo

How to escape from sudden death: a challenging case of a rare cardiomyopathy with an unexpected twist. (PubMed, Monaldi Arch Chest Dis) - "Multisystemic evaluation revealed additional FD manifestations, and enzyme replacement therapy was initiated, later switched to oral migalastat...Despite device therapy and amiodarone initiation, recurrent ventricular tachycardias (VTs) persisted, leading to percutaneous coronary intervention and electrical stability. This case highlights the diagnostic complexity of overlapping cardiac diseases, the significance of inferolateral LGE and conduction abnormalities in suspecting FD, and the crucial role of family screening. The p.F113L variant is associated with late-onset, cardiac-predominant FD, where bradyarrhythmias are more prognostically relevant, but concurrent pathologies like coronary artery disease must be considered in VT presentations."

Journal • Cardiomyopathy • Cardiovascular • Coronary Artery Disease • Fabry Disease • Genetic Disorders • Heart Failure • Hematological Disorders • Thrombosis • Ventricular Tachycardia

A Study of Migalastat in Pediatric Subjects (2 to <12 Yrs) With Fabry Disease and Amenable GLA Variants (clinicaltrials.gov) - P3 | N=8 | Recruiting | Sponsor: Amicus Therapeutics | Not yet recruiting ➔ Recruiting

Enrollment open • Fabry Disease • Genetic Disorders • Pediatrics

Progress and Challenges in the Treatment of Fabry Disease. (PubMed, BioDrugs) - "Current approved treatment includes enzyme replacement therapy (agalsidase alfa [0.2 mg/kg body weight], agalsidase beta or pegunigalsidase alfa [both 1.0 mg/kg body weight]) every other week intravenously or, if a responding ('amenable') α-galactosidase A mutation is present, oral pharmacological chaperone therapy (migalastat 123 mg, every other day). Future therapeutic options may include substrate reduction therapy, gene therapy, messenger RNA therapy, and/or vesicle-packaged enzyme replacement therapy. This review presents current and future treatment options with advantages and disadvantages of the different treatment options."

Journal • Cardiomyopathy • Cardiovascular • CNS Disorders • Fabry Disease • Gene Therapies • Genetic Disorders • Hypertrophic Cardiomyopathy • Lysosomal Storage Diseases • Metabolic Disorders • Rare Diseases • Renal Disease

New drugs available for Fabry disease. (PubMed, Kidney Blood Press Res) - "This review focuses exclusively on newly available drugs and future therapeutic approaches for treating FD, including migalastat, pegunigalsidase alfa, substrate reduction therapy (SRT), and gene therapy. Migalastat provides benefits such as oral administration and non-immunogenicity; however, it is only appropriate for patients with "amenable" GLA variants. The recently approved pegunigalsidase alfa is a pegylated form of α-Gal A manufactured in plant cell cultures, with apparent reduced immune response and prolonged circulating half-life. SRT (venglustat, lucerastat) reduces Gb3 synthesis, helping to normalize metabolic processes while offering certain advantages such as oral administration, non-immunogenic properties, and the possible crossing of the blood-brain barrier. Clinical trials in human and animal model studies are currently investigating ex-vivo and in-vivo gene therapy techniques, showing positive early outcomes. Messages: The ongoing development..."

Journal • Review • Cardiovascular • Fabry Disease • Gene Therapies • Genetic Disorders

Expert review in diagnostic, therapeutic and follow-up of Fabry disease in Latin America based on patient care standards. (PubMed, Mol Genet Metab Rep) - "In Latin-American countries, it is difficult to guarantee this comprehensive and coordinated management, due to limited public policies related to orphan diseases diagnosis, treatment and follow up.It is considered crucial to structure support networks specialized in Fabry disease and generate partnerships with health institutions and other health system stakeholders, that would articulate and coordinate patients and relatives counseling and management, establish the specific pharmacological treatment to reduce the progression of the disease and the systemic involvement, deciding between the administration of enzyme replacement therapy or the most recent option of oral management with pharmacological chaperone both with proven effectiveness. This will be the decision of the attending physician, who will propose and advise the therapeutic choice that best suits the patient's needs."

Journal • Review • Fabry Disease • Genetic Disorders

Safety and efficacy of migalastat in adolescent patients with Fabry disease: Results from ASPIRE, a phase 3b, open-label, single-arm, 12-month clinical trial, and its open-label extension. (PubMed, Mol Genet Metab) - P3 | "Pain related to heat or exertion (as measured by FPHPQ) improved with migalastat treatment, and other patient-reported measures of pain, gastrointestinal symptoms, and quality of life remained stable. These data show a benefit of long-term migalastat treatment in this adolescent patient population with amenable GLA variants."

Clinical • Journal • P3 data • Fabry Disease • Gastrointestinal Disorder • Genetic Disorders • Pain • Pediatrics • GLA

A Study of Patients With Fabry Disease (US Specific) (clinicaltrials.gov) - P=N/A | N=450 | Not yet recruiting | Sponsor: Amicus Therapeutics

New trial • Fabry Disease • Genetic Disorders

A Study of Migalastat in Pediatric Subjects (2 to <12 Yrs) with Fabry Disease and Amenable GLA Variants (clinicaltrials.gov) - P3 | N=8 | Not yet recruiting | Sponsor: Amicus Therapeutics

New P3 trial • Fabry Disease • Genetic Disorders • Pediatrics

Pathogenicity of novel GLA gene missense mutations in Fabry disease and the therapeutic impact of migalastat. (PubMed, J Adv Res) - "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."

Journal • Fabry Disease • Genetic Disorders • Lysosomal Storage Diseases • Metabolic Disorders • Rare Diseases

Fabry Disease Variants Amenable to Chaperone Therapy in a Large CKD Population (NKF-SCM 2025) - "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."

Clinical • Chronic Kidney Disease • Fabry Disease • Genetic Disorders • Nephrology

Status and frontiers of Fabre disease. (PubMed, Orphanet J Rare Dis) - "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."

Journal • Review • Fabry Disease • Genetic Disorders

Impact of enzyme replacement therapy and migalastat on disease progression in females with fabry disease. (PubMed, Orphanet J Rare Dis) - "We conclude that treatment of females with agalsidase-beta, agalsidase-alfa, and migalastat was safe. Independent of the chosen treatment regimen, nearly all patients presented with a stable disease course over time. In our cohort, a comparison of therapy efficacies showed no relevant clinical differences between the groups."

Clinical • Journal • Fabry Disease • Genetic Disorders

Amicus Therapeutics Announces Full-Year 2024 Financial Results and Corporate Updates (GlobeNewswire) - "Galafold (migalastat) net product sales for the full-year 2024 were $458.1 million, representing a year-over-year increase of 18%, or 19% at CER. Fourth quarter net product sales were $127.5 million...Pombiliti (cipaglucosidase alfa-atga) + Opfolda (miglustat) net product sales for the full-year 2024 were $70.2 million. Fourth quarter net product sales were $22.2 million...For the full year 2025, the Company provides revenue growth guidance for Pombiliti + Opfolda of +65% to +85% on a constant currency basis (CER)...First commercial patients from these countries are anticipated to begin treatment over the first half of 2025. Additionally, Pombiliti + Opfolda received regulatory approval in Australia and the Company anticipates new regulatory decisions in Canada and Japan in 2025 as well as additional reimbursement agreements throughout the year."

Canada approval • Japan approval • Reimbursement • Sales • Fabry Disease • Pompe Disease

A Study to Evaluate Migalastat in Fabry Subjects with Amenable GLA Variant and Renal Disease (clinicaltrials.gov) - P3 | N=14 | Recruiting | Sponsor: Amicus Therapeutics | Trial completion date: Dec 2025 ➔ Dec 2026 | Trial primary completion date: Dec 2024 ➔ Dec 2026

Trial completion date • Trial primary completion date • Chronic Kidney Disease • Fabry Disease • Genetic Disorders • Nephrology • Renal Disease

Phenotypic variability and the gender paradox in the R363C variant of Fabry disease. (PubMed, JIMD Rep) - "The discordance between clinical severity and Lyso-GL-3 levels, particularly in the context of migalastat therapy, raises questions about the appropriate interpretation and use of this biomarker...This report underscores the complexity of Fabry disease phenotypes and the limitations of current biomarkers in predicting disease severity, particularly in females. The observed paradox between clinical symptoms and biomarker levels suggests the need for a deeper understanding of the underlying mechanisms driving phenotypic variability in Fabry disease."

Journal • Chronic Kidney Disease • Fabry Disease • Genetic Disorders • Nephrology • Rare Diseases • Renal Disease

CARAT: A Study to Evaluate the Effect of Venglustat Tablets on Left Ventricular Mass Index in Male and Female Adult Participants With Fabry Disease (clinicaltrials.gov) - P3 | N=104 | Active, not recruiting | Sponsor: Sanofi | Trial completion date: Jul 2027 ➔ Dec 2027 | Trial primary completion date: Dec 2025 ➔ May 2026 | Recruiting ➔ Active, not recruiting

Enrollment closed • Trial completion date • Trial primary completion date • Fabry Disease • Genetic Disorders

Safety, Pharmacodynamics, and Efficacy of Migalastat in Pediatric Subjects (Aged >12 Years) with Fabry Disease (clinicaltrials.gov) - P3 | N=15 | Completed | Sponsor: Amicus Therapeutics | Active, not recruiting ➔ Completed | Trial completion date: Dec 2025 ➔ Nov 2024 | Trial primary completion date: Dec 2025 ➔ Oct 2024

Trial completion • Trial completion date • Trial primary completion date • Fabry Disease • Genetic Disorders • Pediatrics

Effects of Current Therapies on Disease Progression in Fabry Disease: A Narrative Review for Better Patient Management in Clinical Practice. (PubMed, Adv Ther) - "Four treatments are currently available for patients with FD; three enzyme replacement therapies (ERTs; agalsidase alfa, agalsidase beta, and pegunigalsidase alfa) and one pharmacological chaperone (migalastat). Real-world data raise concerns about effective in vivo amenability of some genetic variants. Future studies with direct treatment comparisons in patients with FD are needed."

Journal • Review • Cardiovascular • CNS Disorders • Fabry Disease • Fibrosis • Gastrointestinal Disorder • Genetic Disorders • Immunology • Lysosomal Storage Diseases • Metabolic Disorders • Nephrology • Pain • Rare Diseases • Renal Disease

Pharmacokinetic evaluation of single-dose migalastat in non-Fabry disease subjects with ESRD receiving dialysis treatment, and use of modeling to select dose regimens in Fabry disease subjects with ESRD receiving dialysis treatment. (PubMed, PLoS One) - "Migalastat was well extracted by hemodialysis/hemodiafiltration. Migalastat 123 mg QOW is the proposed dose regimen for further evaluation in FD patients with ESRD, which could inform expansion of treatment options."

Journal • PK/PD data • Chronic Kidney Disease • Fabry Disease • Genetic Disorders • Nephrology • Renal Disease