Fabrazyme (agalsidase beta) / Sanofi - 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

Historical Control Analysis Demonstrates Greater Long-Term Reduction in Plasma Globotriaosylceramide (Gb3) by Venglustat Compared With Placebo or Agalsidase Beta in Male Patients With Classic Fabry Disease. (PubMed, Mol Genet Genomic Med) - "Venglustat showed significantly greater reductions in plasma GL-3 concentrations than placebo after 6 months and agalsidase beta after 24 and 36 months. These findings support the potential of long-term venglustat treatment to reduce GL-3 accumulation in patients with classic FD. Further studies are needed to confirm clinical benefit."

Biomarker • Clinical • Journal • Fabry Disease • Genetic Disorders

A Rare Case of Coexisting Fabry Disease and IgAN Progressing to ESRD (KIDNEY WEEK 2025) - "Post-transplant, she remained stable on a regimen of prednisone, tacrolimus, and mycophenolate, with continued Agalsidase beta. While IgAN is typically immune-mediated, it is unclear if FD can trigger autoantibodies production, indicating potential shared immunologic link. Early recognition, multidisciplinary approach and tailored therapy, including enzyme replacement therapy and renal transplantation, are crucial for optimizing outcomes in these rare and complex nephropathies."

Clinical • Chronic Kidney Disease • Cognitive Disorders • Fabry Disease • Genetic Disorders • Glomerulonephritis • IgA Nephropathy • Lupus Nephritis • Lysosomal Storage Diseases • Metabolic Disorders • Nephrology • Neuralgia • Rare Diseases • Renal Disease

Silent Symptoms, Serious Findings: Fabry Disease in a Heterozygous Woman (KIDNEY WEEK 2025) - "In addition to an ACE inhibitor, agalsidase beta was initiated to slow the progression of kidney disease...In our patient, the Y207X mutation led to premature termination of GLA protein expression, resulting in a nonfunctional protein. Genetic results alone do not predict severity; thus, close monitoring and early treatment are essential to prevent complications."

Clinical • ADHD (Impulsive Aggression) • Attention Deficit Hyperactivity Disorder • Cardiomyopathy • Cardiovascular • CNS Disorders • Fabry Disease • Genetic Disorders • Hypertension • Hypertrophic Cardiomyopathy • Lysosomal Storage Diseases • Metabolic Disorders • Nephrology • Obesity • Otorhinolaryngology • Psychiatry • Rare Diseases • Renal Disease

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

Pegunigalsidase Alfa Elfabrio® as a Long-Term Enzyme Replacement Therapy in Adults With Fabry Disease: A Systematic Literature Review (ISPOR-EU 2025) - P1/2, P3 | "Pegunigalsidase alfa demonstrated improved efficacy and a comparable safety profile to agalsidase beta, supporting its long-term use in adults with Fabry disease but further research is warranted to assess its comparative effectiveness versus agalsidase alfa."

Clinical • Review • 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

Pooled analysis of the effect of pegunigalsidase alfa on renal function: Data from 113 patients in the pegunigalsidase alfa clinical trial program (SSIEM 2023) - "The safety and efficacy of PA has been investigated in 4 clinical trials and 3 long-term extensions, consisting of ERT-naïve patients (pts) and those who switched from agalsidase beta (AB) or alfa (AA). In this pooled analysis that included a large proportion of pts with prior ERT exposure, PA- treated pts showed slower decline in eGFR over time, indicating that PA can be a valuable option for FD, regardless of gender or prior ERT exposure."

Retrospective data • Fabry Disease • Genetic Disorders

LYSO-GB3 Normalisation in Fabry Disease-Treated Patients (SSIEM 2023) - "Eight Fabry disease patients with a confirmed diagnosis and normalised plasma Lyso-Gb3 with agalsidase beta (1 mg/kg each other week) were included. The mean patient age ("

Clinical • Cardiovascular • Fabry Disease • Genetic Disorders • Lysosomal Storage Diseases • Metabolic Disorders • Rare Diseases • 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

Managing Severe Infusion Reactions to Fabrazyme in Child with Fabry Disease (ACAAI 2025) - "For children in whom ERT is essential and no alternative therapies exist, a modified protocol offers a safe approach to reinitiating treatment. Individualized strategies are critical to ensure adequate treatment for these patients."

Clinical • Fabry Disease • Genetic Disorders • Immunology • Lysosomal Storage Diseases • Metabolic Disorders • Rare Diseases

A multi-country time and motion study to describe the experience and burden associated with the treatment of Fabry disease with enzyme replacement therapy with agalsidase alfa and agalsidase beta. (PubMed, Orphanet J Rare Dis) - P | "The multi-region findings provide a more complete picture of the burden associated with ERT administration for FD treatment on patients, caregivers, and HCPs. Results may support further cost-effectiveness modelling for novel treatment approaches and inform treatment decisions and patient management."

Journal • Observational data • Fabry Disease • Genetic Disorders

A phase 4, open-label, multicenter study of the safety and efficacy of agalsidase beta in Chinese patients with Fabry disease. (PubMed, Orphanet J Rare Dis) - P4 | "This study demonstrates that agalsidase beta is safe and effective in Chinese patients with Fabry disease, and suggestes that COVID-19 infection may potentially impact the renal prognosis for Fabry disease."

Clinical • Journal • P4 data • Fabry Disease • Genetic Disorders • Infectious Disease • Novel Coronavirus Disease

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

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

Characterizing pain in patients with Fabry disease: findings from a web-based cross-sectional survey in the US. (PubMed, Orphanet J Rare Dis) - "Pain was largely reported to be triggered across all subgroups. Consistent pain profiles were noted in participants across sex and FD phenotypes. Female participants reported pain burden similar to that of male participants, and pain crisis experience was heterogeneous across the subgroups. Most participants reported improvement in symptoms after FD-specific treatment and a high treatment satisfaction score with agalsidase beta."

Journal • Fabry Disease • Genetic Disorders • Neuralgia • Pain

Renal protective effect of SGLT2 inhibitors in patients with Fabry disease (ERA 2025) - "At baseline, the mean age was 40.6 ± 17.6 years, and the mean eGFR was 87.9 ± 33.5 mL/min/1.73 m2, 70.0% (N = 7) received renin-angiotensin system inhibitors, and 90% (N = 9) received ERT (agalsidase-alpha, N = 6; agalsidase-beta, N = 3)... SGLT2 inhibitors may mitigate kidney function decline in patients with FD, highlighting their potential as a novel therapeutic strategy for managing kidney disease in this population."

Clinical • Chronic Kidney Disease • Diabetic Nephropathy • Fabry Disease • Genetic Disorders • Metabolic Disorders • Nephrology • Renal Disease

A phase 4 study to evaluate the safety and tolerability of higher infusion rates of agalsidase beta to shorten the infusion duration in Fabry disease – Preliminary data (ERA 2025) - P4 | "All patients were given acetaminophen and diphenhydramine as premedication before each infusion. The results demonstrate that agalsidase beta infusions can be safely administered in as short as 20 minutes in ERT-experienced patients without IARs. These findings will help establish a protocol to reduce the duration of agalsidase beta infusions and minimize the resulting treatment burden."

Clinical • P4 data • Cardiovascular • Fabry Disease • Genetic Disorders • Renal Disease

Histological changes and a3ß1 Integrin and MMP-1 expressions in early Fabry Nephropathy in female patients (ERA 2025) - "All patients needed to start enzyme replacement therapy (ERT), Agalsidase beta: 1.0 mg/Kg; e.o.w., due to Fabry manifestations... Kidney biopsies in women showed histological and immunohistochemistry changes of FN, even in the early stages of CKD and in the absence of high albuminuria. Therefore, kidney biopsy with α3β1 evaluation of the expression of integrins and MMP-1 might help to identify early stages of Fabry nephropathy."

Clinical • Chronic Kidney Disease • Fabry Disease • Fibrosis • Genetic Disorders • Immunology • Renal Disease • MMP1

Current status of the immunogenicity of enzyme replacement therapy in fabry disease. (PubMed, Orphanet J Rare Dis) - "Currently, there are three commercially available long-term ERT treatments in patients with FD: agalsidase alfa, agalsidase beta, and more recently, pegunigalsidase alfa. Overcoming the development of ADAs is critical to improving treatment outcomes in patients with FD, different strategies have been explored to address this challenge. The present work aims to review latest developments related to all aspects mentioned above, while also analyzing the potential role of therapeutic innovations."

Journal • Review • Fabry Disease • Genetic Disorders

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

THE HIDDEN CLUE: MRI PARAMETRIC MAPPING IN THE DIAGNOSIS OF FABRY DISEASE IN A FEMALE ACTIVE DUTY SOLDIER - Elizabeth R. Doman (ACC 2025) - "She was subsequently started on enzyme replacement therapy (agalsidase beta) following consultation with metabolic and heart failure specialists.Decision-making: In females, Fabry Disease may present later and more subtly due to incomplete α-galactosidase deficiency... Timely diagnosis of Fabry Disease in female patients with LVH is crucial, especially with evolving therapies. CMR parametric mapping should be a routine component in the evaluation of HCM, aiding in the differentiation of Fabry Disease from other cardiomyopathies."

Cardiomyopathy • Cardiovascular • Congestive Heart Failure • Fabry Disease • Genetic Disorders • Heart Failure • Hypertrophic Cardiomyopathy • Pulmonary Disease

Agalsidase Beta Long-Term Treatment Outcome for Fabry Disease Patients With IVS4 Mutation in Taiwan (clinicaltrials.gov) - P=N/A | N=78 | Active, not recruiting | Sponsor: Sanofi | Recruiting ➔ Active, not recruiting

Enrollment closed • Fabry Disease • Genetic Disorders

Natural History of Renal Involvement of Fabry Disease in a Female Carrier (NKF-SCM 2025) - "She declined a renal biopsy and was treated with lisinopril. Our heterozygote carrier patient progressed to ESRD. Eight years after transplant, graft survival is excellent while getting bimonthly Fabrazyme."

Atrial Fibrillation • Cardiomyopathy • Cardiovascular • Chronic Kidney Disease • Fabry Disease • Genetic Disorders • Hepatology • Hypertrophic Cardiomyopathy • Immunology • Inflammation • Inflammatory Arthritis • Lysosomal Storage Diseases • Metabolic Disorders • Nephrology • Pain • Rare Diseases