Galafold (migalastat) / GSK, Amicus, BioMarin - LARVOL DELTA

Long-Term Cardiac Remodeling During Migalastat Therapy in a Heterozygote Woman With Fabry Disease (N224S): A 9 Year Case Report. (PubMed, Am J Case Rep) - "CONCLUSIONS This case provides real‑world evidence of favorable long‑term cardiac remodeling during migalastat therapy in a heterozygous woman with the N224S variant. The sustained reduction in LVMI, preserved systolic function, and improving diastolic indices together indicate a durable cardiac response and extend the limited longitudinal data available for variant‑specific outcomes in FD."

Journal • Fabry Disease • Fibrosis • Genetic Disorders • Immunology

VARIANTS OF VARYING CLINICAL CONSEQUENCE IN FABRY DISEASE: REAL-WORLD DATA FROM A UK REFERRAL CENTRE (SSIEM 2026) - "Enzyme replacement therapy was more common in pathogenic variants, while migalastat use was similar...Integrating genetic, biochemical and clinical data remains essential for variant interpretation and treatment decisions. References: Bienvenu T et al, MDPI 2020 Pillai NR et al, MGM 2025"

Clinical • Real-world • Real-world evidence • Cardiovascular • CNS Disorders • Depression • Fabry Disease • Genetic Disorders • Renal Disease

followME Fabry Pathfinders registry: 5-year cardiac, renal and multisystem effectiveness in patients on migalastat (SSIEM 2026) - "Conclusion The long-term real-world effectiveness of migalastat has been demonstrated through low FACE incidence, preserved LVMi, and stable renal function over median 6.5 years in both male and female patients, with no new safety findings reported. These results are consistent with prior findings from followME and the migalastat clinical programme."

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

In vitro Amenability to Migalastat does not always correlate with Clinical Efficacy in Fabry Disease (SSIEM 2026) - "However, some cases showed no GLA activity elevations with migalastat treatment, suggesting that in vitro amenability does not always correlate with clinical efficacy. It is necessary to evaluate the clinical efficacy of migalastat even in Fabry patients with amenable variants."

Preclinical • Fabry Disease • Genetic Disorders

Newborn screening for Fabry disease detects milder phenotypes of GLA dysfunction: lessons from Aichi, Japan (SSIEM 2026) - "Allele frequency, in silico predictions, database annotation, and migalastat amenability were assessed... Previous report have suggested that, in the absence of additional risk factors such as obesity and high blood pressure, GLA insufficiency due to R112H does not cause cardiac or renal complications. This indicates that NBS for Fabry disease may detect milder phenotypes of GLA dysfunction. The suitability of including genetic disorders in newborn screening depends on disease severity and age of onset."

Cardiovascular • CNS Disorders • Fabry Disease • Genetic Disorders • Hypertension • Metabolic Disorders • Obesity

Safety and Efficacy of Migalastat in Fabry Disease: A Systematic Review and Meta-Analysis (SSIEM 2026) - "Migalastat represents a potent and well-tolerated chaperone therapy that effectively stabilizes organ function in patients with amenable variants. The significant reduction in cardiac mass highlights its effectiveness. Furthermore, standardizing outcomes into annualized slopes suggests that migalastat achieves multisystem stability comparable to ERT."

Retrospective data • Review • Fabry Disease • Genetic Disorders • Rare Diseases

Switching to migalastat in Fabry disease: clinical evidence and Argentine real-world experience (SSIEM 2026) - "Published evidence supports renal stabilization and reduction in LVMi after switching from ERT to migalastat in FD patients with amenable variants. Early real-world experience in Argentina with the generic formulation of migalastat aligns with these findings, demonstrating good tolerability, high adherence, and a favorable short-term safety profile. Ongoing follow-up will assess long-term efficacy and clinical outcomes."

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

GLA is associated with ESCC progression and chemotherapy response via DNA damage repair-related pathways. (PubMed, Front Oncol) - "The effect of GLA knockdown on chemosensitivity, and the combination of the GLA pharmacological chaperone Migalastat with gemcitabine or cisplatin, were evaluated by CCK-8 assays in two ESCC cell lines. GLA is a novel, upregulated gene in ESCC with diagnostic relevance and an oncogenic role, and is associated with DNA damage repair-related transcriptional programs and chemotherapy response. Combining Migalastat with chemotherapy may represent a candidate strategy that warrants further mechanistic and in vivo investigation."

Journal • Esophageal Squamous Cell Carcinoma • Oncology • Squamous Cell Carcinoma

Cardiovascular Drug Access in Australia and New Zealand: New PBS and PHARMAC Listings, 2023-2025. (PubMed, Heart Lung Circ) - "The 2023-2025 period has seen notable additions to cardiovascular pharmacotherapy in Australia, including the first cardiac myosin inhibitor, the first transthyretin stabiliser, expanded lipid lowering therapy options, and extension of SGLT2 inhibitor coverage across the heart failure ejection fraction spectrum. A pronounced access disparity persists between Australia and New Zealand."

Journal • Review • Acute Coronary Syndrome • Cardiomyopathy • Cardiovascular • Chronic Kidney Disease • Congestive Heart Failure • Dyslipidemia • Heart Failure • Hypertension • Hypertrophic Cardiomyopathy • Nephrology • Renal Disease

Impact of SGLT2 inhibitors on albuminuria, renal function, and tolerability in Fabry disease: A multicenter real‑world study in rare disease (ERA 2026) - "Method This multicenter, real ‑ world case series included 17 individuals with genetically confirmed Fabry disease who initiated dapagliflozin or empagliflozin. Disease ‑ specific therapy consisted of agalsidase ‑ beta (n = 11), agalsidase ‑ alpha (n = 3), or migalastat (n = 3)...No increase in AKI or UTI episodes was observed. Conclusion SGLT2 inhibitors reduced albuminuria and stabilized renal function in Fabry disease, supporting their potential role as adjunctive renoprotective therapy."

Clinical • Real-world • Real-world evidence • Chronic Kidney Disease • Fabry Disease • Genetic Disorders • Nephrology • Rare Diseases • Renal Disease

Impact of migalastat therapy on corneal deposits in a female with Fabry disease: A case report. (PubMed, Mol Genet Metab Rep) - "This case report examines the effect of migalastat on corneal deposits in a female who experienced therapy interruption during two pregnancies. It emphasizes the importance of multidisciplinary care with ophthalmologic follow-up and explores long-term effects of migalastat on corneal deposits and disease progression."

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

Effectiveness and tolerability of migalastat in adult Fabry disease: A single regional centre experience. (PubMed, Mol Genet Metab Rep) - "Migalastat was well tolerated and maintained stable renal and cardiac parameters with plasma lyso-Gb3 improvement. However, a subset of patients showed progression or intolerance, underscoring that variant amenability alone may not predict clinical benefit."

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

Novel GLA variant in Fabry cardiomyopathy: evidence of pathogenicity and amenability to migalastat. (PubMed, Open Heart) - "This study identified GLA c.227T>A (p.Met76Lys) as a novel pathogenic variant that primarily causes cardiac dysfunction. Migalastat may represent a therapeutic option for this variant."

Journal • Retrospective data • Cardiomyopathy • Cardiovascular • Fabry Disease • Fibrosis • Genetic Disorders • Immunology • Lysosomal Storage Diseases • Metabolic Disorders • Rare Diseases

Treatment-related benefit and satisfaction in patients with Fabry disease in France: insight into patients' expectations and preferences from the prospective, non-interventional SATIS-Fab study. (PubMed, Orphanet J Rare Dis) - P | "Patients with FD, mostly receiving migalastat, reported a relatively high level of treatment benefit that remained stable over 2 years. Switching from ERT to migalastat was associated with significantly increased treatment benefit. The FD-specific PBI could support shared decision making about treatment."

Journal • Fabry Disease • Genetic Disorders

A CASE OF FABRY DISEASE WITH A FAVORABLE PREGNANCY COURSE WHILE CONTINUING MIGALASTAT TREATMENT (ISN-WCN 2026) - "Evaluating the safety and efficacy of treatment during pregnancy is therefore essential. We present a case of a woman with Fabry disease who achieved a favorable pregnancy outcome while continuing migalastat therapy."

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

Key considerations for measuring α-galactosidase A activity after long-term migalastat therapy-Avoiding in vitro inhibition effects. (PubMed, Mol Genet Metab Rep) - "However, residual migalastat in blood escaped from excretion can competitively inhibit the substrate 4-Metylumbellifel-α-D-galactoside (4-MUG) during DBS-based assays, resulting in underestimated enzyme activity. To address this, we investigated the impact of migalastat interference and demonstrated that removing migalastat using Amicon®Ultra filter from DBS samples enables accurate assessment of α-GAL activity for monitoring therapeutic response in Fabry disease."

Journal • Preclinical • Fabry Disease • Genetic Disorders

Impact of SGLT2 inhibitors in patients with Fabry disease. (PubMed, Clin Res Cardiol) - "Treatment with SGLT2i of FD patients was safe and patients presented with stable disease courses. Especially males with reduced LVEF might benefit from SGLT2i treatment."

Clinical • Journal • Cardiovascular • Congestive Heart Failure • Fabry Disease • Genetic Disorders • Heart Failure • Nephrology • Renal Disease

AT1001-033: An Open-label Study of the Safety, Pharmacokinetics, Pharmacodynamics, and Efficacy of 12-month Treatment with Migalastat in Pediatric Subjects (aged 2 to < 12 years) with Fabry Disease and Amenable GLA Variants (clinicaltrialsregister.eu) - P2/3 | N=3 | Not yet recruiting | Sponsor: Amicus Therapeutics Inc.

New P2/3 trial • Fabry Disease • Genetic Disorders • Pediatrics

From Shoulder to Heart: Acute Shoulder Pain Leads to a Diagnosis of Fabry Disease. (PubMed, JACC Case Rep) - "Unexplained chronic troponin elevation and left ventricular hypertrophy merit further evaluation, even if the abnormality is mild. Diagnostic work-up for FD involves cardiac magnetic resonance imaging, serum α-galactosidase level, and genetic testing."

Journal • Cardiovascular • Fabry Disease • Genetic Disorders • Lysosomal Storage Diseases • Metabolic Disorders • Musculoskeletal Pain • Pain • Rare Diseases

Dapagliflozin in Patients With CKD With Fabry Disease. (PubMed, Kidney Int Rep) - "Eight out of 9 fast renal progressor patients achieved an annual eGFR slope ≤ 3 ml/min during the T1 to T2 period. this preliminary evidence shows that dapagliflozin was associated with reduction in albuminuria, proteinuria, and eGFR decline in patients with FD and albuminuric CKD receiving ERT or migalastat and RAS-i over 12 months."

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

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

Enrollment open • Fabry Disease • Genetic Disorders

A Study to Evaluate Migalastat in Fabry Subjects With Amenable GLA Variant and Renal Disease (clinicaltrials.gov) - P3 | N=14 | Active, not recruiting | Sponsor: Amicus Therapeutics | Recruiting ➔ Active, not recruiting

Enrollment closed • Chronic Kidney Disease • Fabry Disease • Genetic Disorders • Nephrology • Renal Disease

Clinical presentation and prognosis of transthyretin cardiac amyloidosis according to gender. Analysis of the Galician registry of cardiac amyloidosis (AMIGAL). (PubMed, Med Clin (Barc)) - "Women with AC-ATTR presented with worse functional class, higher LVEF and higher left ventricular thicknesses than men. Female patients received less frequently SGLT2i and tafamidis, and were admitted to hospital for HF less frequently compared to male patients, while survival was similar."

Journal • Amyloidosis • Cardiac Amyloidosis • Cardiovascular

Spatial Metabolomics Reveals GLA-Mediated Imbalance of Gal2Cer/GalCer as a Therapeutic Target in Myocardial Ischemia-Reperfusion Injury. (PubMed, FASEB J) - "Functional validation further demonstrated that both cardiomyocyte-specific GLA knockdown (via AAV-shGla) and pharmacological inhibition (using the GLA inhibitor GR181413A) effectively reduced myocardial infarct size, alleviated pathological remodeling, and improved cardiac function in I/R-injured mice. Collectively, our spatial metabolomics revealed that GLA-mediated Gal2Cer/GalCer imbalance is a critical regulator of myocardial I/R injury, and targeting GLA represents a promising therapeutic strategy."

Journal • Cardiovascular • Metabolic Disorders • Myocardial Infarction • Myocardial Ischemia • Reperfusion Injury

Impact of migalastat on cerebral outcomes in fabry disease - results from the prospective observational FAMOUS trial. (PubMed, Neurol Res Pract) - "Our data suggest that microangiopathic lesion load remains relatively stable under migalastat. Antihypertensive therapy may be important to reduce WML in FD. Further studies are needed to assess the cerebral effect of migalastat therapy."

Journal • Observational data • Cardiovascular • CNS Disorders • Fabry Disease • Genetic Disorders • Hypertension • Lysosomal Storage Diseases • Metabolic Disorders • Multiple Sclerosis • Pulmonary Arterial Hypertension • Rare Diseases