Galafold (migalastat) / GSK, Amicus - LARVOL DELTA

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

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