Galafold (migalastat) / GSK, Amicus - LARVOL DELTA

Clinical outcomes in Fabry patients switching to agalsidase beta for renal ineffectiveness of the primary Fabry therapy: a single-centre analysis. (PubMed, Clin Kidney J) - "All other parameters were stable over time. Treatment switch from agalsidase alfa or migalastat to agalsidase beta can attenuate eGFR decline and enhance lyso-Gb3 reduction, confirming the dose-dependent effect of agalsidase beta to further slow down FD progression."

Clinical data • Journal • Fabry Disease • Genetic Disorders • Renal Disease

Long-Term Cardiac Stability Despite Late Enzyme Replacement Therapy in Fabry Disease With Severe Renal Involvement. (PubMed, JACC Case Rep) - "Late initiation may still prevent cardiac involvement if started before myocardial damage. Delayed therapy cannot halt advanced renal deterioration. Timely diagnosis and organ screening are essential in FD."

Journal • Chronic Kidney Disease • Fabry Disease • Fibrosis • Genetic Disorders • Heart Failure • Immunology • Lysosomal Storage Diseases • Metabolic Disorders • Nephrology • Rare Diseases • Renal Disease • Transplantation

Assessment of α-Galactosidase A Activity Following Migalastat Therapy in Real-World Cases of Fabry Disease (KIDNEY WEEK 2025) - "Current treatment options include enzyme replacement therapy (ERT) with recombinant agalsidase alfa or beta, and pharmacological chaperone therapy with migalastat. Discussion Although migalastat is approved for Fabry disease patients with amenable mutations, its clinical efficacy appears to vary considerably depending on the specific genotype. Our findings underscore the importance of individualized assessment before initiating migalastat therapy, highlighting that treatment decisions should be based not solely on genetic amenability but also on clinical context and expected therapeutic benefit."

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

Cost-Utility Analysis of Pegunigalsidase Alfa Compared to Agalsidase Alfa and Agalsidase Beta for the Treatment of Adult Patients With Fabry Disease in Greece (ISPOR-EU 2025) - "Enzyme replacement therapies (ERT) (agalsidase-alfa, agalsidase-beta, pegunigalsidase-alfa), along with migalastat have shown clinical benefits; however, their economic value remains a key consideration for payers. Treatment with pegunigalsidase-alfa results in less costs and potentially improves health outcomes compared to currently used ERTs for adult patients with FD in Greece."

Clinical • HEOR • Fabry Disease • Genetic Disorders • Rare Diseases

Matching-Adjusted Indirect Comparisons (MAICs) and Network Meta-Analyses (NMAs) of the Oral Small-Molecule Chaperone Migalastat vs. Intravenous Enzyme Replacement Therapies (ERTs) for Clinical Measures in Fabry Disease (ISPOR-EU 2025) - P1/2, P3 | "OBJECTIVES: ATTRACT (NCT01218659) compared migalastat with ERT (agalsidase alfa/beta [AGAL-α/β]) in patients with Fabry disease and amenable GLA variants. We indirectly compared migalastat with pegunigalsidase alfa (PEG) for key cardiac/renal measures and with any ERT for long-term risk of Fabry-associated clinical events (FACEs; specific cardiac/renal/cerebrovascular events/death). Systematic/targeted literature reviews identified publications/studies reporting left ventricular mass index (LVMi), annualised change in estimated glomerular filtration rate (eGFR slope) and/or FACEs... In populations matched for age, sex, eGFR/previous ERT duration and ACEi/ARB, LVMi change and eGFR slope were similar for migalastat and PEG; long-term FACE risk was similar for migalastat and AGAL-α/β."

Clinical • Fabry Disease • Genetic Disorders

What Has Worked Well in Fabry Disease? An HTA Landscape Assessment Study (ISPOR-EU 2025) - "These submissions were assessed for the final recommendations for reimbursement and key issues. We found four treatments for FD, including agalsidase alfa, agalsidase beta, pegunigalsidase alfa, and migalastat. This analysis suggests that HTA journey of treatments in FD has been challenging and inconsistent, with most HTA receiving conditional recommendations. While orphan medications address medical needs for a small number of patients and their development should be encouraged, HTA agencies mainly assess it from economic value in addition to the clinical benefits over the existing standard care."

Fabry Disease • Genetic Disorders • Rare Diseases

Budget Impact Analysis Of Migalastat Incorporation vs. Enzyme Replacement Therapies For Fabry Disease: Validation of a Cost-Assessment Tool In Brazilian Private Healthcare System (ISPOR-EU 2025) - "Although ERTs are well-established treatment options, lifelong biweekly infusions place a significant burden on patients and healthcare systems. The incorporation of migalastat offers an oral therapeutic alternative which may improve treatment adherence and clinical outcomes representing a cost-saving alternative for eligible patients with Fabry disease. This study highlights the importance of BIA models and tools, such as the calculator tested, to inform healthcare policy decisions."

HEOR • Fabry Disease • Genetic Disorders

Long-term monitoring of cardiac involvement under migalastat treatment using magnetic resonance tomography in Fabry disease (SSIEM 2023) - No abstract available

Fabry Disease • Genetic Disorders

Long-term monitoring of cardiac involvement under migalastat treatment using magnetic resonance tomography in Fabry disease (SSIEM 2023) - No abstract available

Fabry Disease • Genetic Disorders

Long-term monitoring of cardiac involvement under migalastat treatment using magnetic resonance tomography in Fabry disease (SSIEM 2023) - No abstract available

Fabry Disease • Genetic Disorders

Long-term monitoring of cardiac involvement under migalastat treatment using magnetic resonance tomography in Fabry disease (SSIEM 2023) - "Our study confirms an overall stable course of LVMi, in patients with FD, treated with migalastat. However, individual patients may experience disease progression, especially those who present with fibrosis of the myocardium already at the time of therapy initiation. Thus, a regular treatment re- evaluation including CMR is needed to provide the optimal management for each patient."

Cardiomyopathy • Cardiovascular • Fabry Disease • Fibrosis • Genetic Disorders • Immunology

Multiorgan involvement in females with Fabry disease: results from 2 phase III trials and the followME registry (SSIEM 2023) - P3 | "Integrated data from females at baseline (BL) in 2 phase III migalastat clinical studies FACETs (NCT01458119) and ATTRACT (NCT02194985) (n=63) and enrollment data from females in the followME Fabry Pathfinders registry (EUPAS20599) (n=50) were analyzed...In followME, 56% (n=28) of females (median 60.5 yrs) reported MOI at enrollment; the most common systems involved were PNS and renal (both 68%; n=19). These findings indicate a high MOI in females with FD, highlighting a need for greater recognition of the severity of disease in females and the importance of early diagnosis and treatment."

P3 data • Cardiovascular • Fabry Disease • Genetic Disorders • Otorhinolaryngology • Renal Disease

Safety and tolerability of pegunigalsidase alfa: Insights from a single site experience from the Expanded Access Program in the United States (SSIEM 2023) - P | "The enrollment reasons included poor tolerability of agalsidase beta (AB), disease progression on AB, and worsening of proteinuria on migalastat...One ERT-naïve male with classic FD enrolled due to poor tolerability with venglustat and withdrew after experiencing a serious adverse event (SAE) of hypersensitivity reaction with the third PA infusion (antidrug antibody [ADA]-negative at baseline [BL])... PA is a novel ERT that is well tolerated in patients with FD. While healthcare providers should remain vigilant for possible hypersensitivity reactions, PA may offer the benefit of reduced infusion duration and lower premedication burden for some patients with poor tolerability with other ERTs."

Clinical • Cardiovascular • Fabry Disease • Genetic Disorders • Immunology • Movement Disorders • Renal Disease • Ventricular Tachycardia

A Study of Patients With Fabry Disease (US Specific) (clinicaltrials.gov) - P=N/A | N=450 | Not yet recruiting | Sponsor: Amicus Therapeutics | Initiation date: Jul 2025 ➔ Oct 2025

Trial initiation date • 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 | Recruiting | Sponsor: Amicus Therapeutics | Initiation date: Jul 2025 ➔ Oct 2025

Trial initiation date • Fabry Disease • Genetic Disorders • Pediatrics

Long-term efficacy of migalastat in females with Fabry disease. (PubMed, J Med Genet) - P3 | "These data show that females with Fabry disease experience considerable disease severity and burden and support the long-term efficacy of migalastat for the treatment of females."

Journal • Cardiovascular • Chronic Kidney Disease • Fabry Disease • Genetic Disorders • Nephrology • Renal Disease

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