Cerdelga (eliglustat tartrate) / Sanofi - LARVOL DELTA

Phenotypic spectrum and treatment outcomes in Russian gaucher disease patients: Real-world experience with biosimilar imiglucerase (ASH 2025) - "Therapy: 321 patients received pathogenetic treatment: enzyme replacement therapy (ERT): 92% (imiglucerase-biosimilar [Russia]: 69%, velaglucerase: 30%, taliglucerase: 1%) substrate reduction therapy (eliglustat): 8% Outcomes: after 7 years of ERT, anemia persisted in 6% and severe thrombocytopenia (platelets 93% achieving hematologic stability on long-term therapy."

Clinical • Real-world • Real-world evidence • Gaucher Disease • Gene Therapies • Genetic Disorders • Hematological Disorders • Leukopenia • Lysosomal Storage Diseases • Metabolic Disorders • Rare Diseases • Thrombocytopenia

Real-world outcomes with eliglustat for gaucher disease type 1 in China: A multicenter retrospective study (ASH 2025) - "Eliglustat showed significant real-world effectiveness and a favorable safety profile in Chinese GD1 patients, suggesting its potential as a first-line treatment in resource-limited settings where ERT access is challenging. While limited by small sample size and short follow-up, these findings align with global data and provide critical insights into GD1 management in China. Future long-term, prospective studies are warranted to validate these results and further explore Eliglustat's role in addressing unmet needs in this population."

Real-world • Real-world evidence • Retrospective data • Gaucher Disease • Genetic Disorders • Hematological Disorders • Lysosomal Storage Diseases • Metabolic Disorders • Rare Diseases • Thrombocytopenia • Type 1 Gaucher Disease

Exploring the hub gene CERS6 as a therapeutic target in type 1 diabetes through a bioinformatics and network analyst approach. (PubMed, Sci Rep) - "Methotrexate, eliglustat, myriocin and statins were identified as potential drugs for CERS6. Overall, these findings provide valuable insights that could pave the way for new experimental strategies in T1DM therapy."

Journal • Diabetes • Immunology • Metabolic Disorders • Type 1 Diabetes Mellitus

Bone involvement in Gaucher disease: Data from a North African registry. (PubMed, Reumatol Clin (Engl Ed)) - "We presented descriptive data on BI derived from the Tunisian national Gaucher disease registry. This manifestation was common in our cohort. The limited size and heterogeneity of the treated subgroups precluded robust statistical comparisons. A major challenge in our setting is the delayed initiation of specific therapies, primarily due to late diagnosis and limited access to treatment."

Journal • Gaucher Disease • Genetic Disorders • Metabolic Disorders • Musculoskeletal Pain • Oncology • Osteoporosis • Pain • Rheumatology

ELIKIDS: baseline characteristics from the eliglustat substrate reduction therapy trial in children with Gaucher disease type 1 or type 3 (SSIEM 2023) - No abstract available

Clinical • Gaucher Disease • Genetic Disorders • Metabolic Disorders • Type 1 Gaucher Disease

ELIKIDS: baseline characteristics from the eliglustat substrate reduction therapy trial in children with Gaucher disease type 1 or type 3 (SSIEM 2023) - No abstract available

Clinical • Gaucher Disease • Genetic Disorders • Metabolic Disorders • Type 1 Gaucher Disease

ELIKIDS: baseline characteristics from the eliglustat substrate reduction therapy trial in children with Gaucher disease type 1 or type 3 (SSIEM 2023) - No abstract available

Clinical • Gaucher Disease • Genetic Disorders • Metabolic Disorders • Type 1 Gaucher Disease

ELIKIDS: baseline characteristics from the eliglustat substrate reduction therapy trial in children with Gaucher disease type 1 or type 3 (SSIEM 2023) - P3 | "Overall, most patients enrolled in ELIKIDS have GD1 (86%), are CYP2D6 extensive metabolizers (96%), and were assigned to Cohort 1 (89%) at baseline."

Clinical • Gaucher Disease • Genetic Disorders • Hematological Disorders • Metabolic Disorders • Orthopedics • Pediatrics • Pulmonary Disease • Respiratory Diseases • Thrombocytopenia • Type 1 Gaucher Disease

The French Gaucher disease registry: clinical features, complications, and treatment trends of 688 patients (SSIEM 2023) - "Among the currently treated patients (n=311), 57% received Imiglucerase, 18% Velaglucerase, and 25% Eliglustat. Parkinson`s disease developed in 10 (5%) patients at a median of 54 [46-62] years. Conclusion The registry enabled us to describe the epidemiology of GD in France, as well as the treatment evolution and the prevalence of GD complications and associated diseases."

Clinical • CNS Disorders • Fatigue • Gaucher Disease • Genetic Disorders • Hematological Malignancies • Hepatology • Lymphoma • Metabolic Disorders • Movement Disorders • Multiple Myeloma • Musculoskeletal Pain • Myeloproliferative Neoplasm • Oncology • Pain • Parkinson's Disease • Solid Tumor

The SGLT2 Inhibitor Dapagliflozin Disrupts the Cell Cycle at High Concentrations Without Altering Glycosphingolipid (De Novo)Biosynthesis. (PubMed, Int J Mol Sci) - "Treatment options for glycosphingolipidoses, lysosomal storage diseases involving glycosphingolipids (GSLs), are currently limited to a few drugs that inhibit de novo GSL biosynthesis, such as eliglustat and miglustat (Zavesca®). While Genz-123346 significantly inhibited glycosphingolipid biosynthesis at concentrations as low as 1 µM, dapagliflozin, even up to 50 µM, had no effect on biosynthesis or de novo biosynthesis in either cell line. These results indicate that dapagliflozin, although assessing effects on the cell cycle, including proliferation at high concentrations, is not a suitable candidate for treating glycosphingolipid storage diseases by substrate reduction."

Journal • Lysosomal Storage Diseases • Metabolic Disorders • Rare Diseases

GSL Synthetase Inhibitor Eliglustat Combined With CD30 Target Immunotherapy for the Treatment of of CD30+ Lymphoma (clinicaltrials.gov) - P1/2 | N=40 | Not yet recruiting | Sponsor: Chinese PLA General Hospital

New P1/2 trial • Hematological Malignancies • Lymphoma • Oncology

The safety and efficacy of Eliglustat in Chinese adult patients with type 1 Gaucher disease (ChiCTR) - P4 | N=5 | Completed | Sponsor: Chinese PLA General Hospita; Chinese PLA General Hospital

New P4 trial • Gaucher Disease • Genetic Disorders • Metabolic Disorders • Type 1 Gaucher Disease

GSL Synthetase Inhibitor Plus GM-CSF and/ or Immune Checkpoint Inhibitor in Previously Treated High-Risk Neuroblastoma. (clinicaltrials.gov) - P1 | N=10 | Not yet recruiting | Sponsor: Chinese PLA General Hospital

Checkpoint inhibition • New P1 trial • Neuroblastoma • Oncology • Solid Tumor

Increased Lyso-Gb1 Levels in an Obese Splenectomized Gaucher Disease Type 1 Patient Treated with Eliglustat: Unacknowledged Poor Compliance or Underlying Factors. (PubMed, Metabolites) - "Data on biochemical and clinical outcomes in splenectomized or obese patients treated with eliglustat are limited, and the role of specific genotypes requires further clarification. The variability in responses to eliglustat highlights the complexity of GD and underscores the need for personalized approaches to treatment and monitoring."

Compliance • Journal • Fatigue • Gaucher Disease • Genetic Disorders • Metabolic Disorders • Obesity • Type 1 Gaucher Disease

EVALUATION OF ELIGLUSTAT THERAPY IN PATIENTS WITH GAUCHER DISEASE TYPE 1: A SINGLE CENTER EXPERIENCE (EHA 2025) - "More specifically, 3/12 had not received previous treatment (treatment-naïve, TN) while 9/12 had received enzyme treatment (treatment switch, TS); seven (7/9) had received imiglucerase and 2/9 velaglucerase. Our experience with the use of oral eliglustat in patients with GD1, despite the small number of patients, confirms that eliglustat treatment is an effective treatment for the disease."

Clinical • Anemia • Gaucher Disease • Genetic Disorders • Hematological Disorders • Metabolic Disorders • Thrombocytopenia • Type 1 Gaucher Disease

In Vivo Accumulation of Regulatory T Cells Using Eliglustat-Loaded Cryogels. (PubMed, Adv Healthc Mater) - "Loading eliglustat into these cryogels significantly enhances the local accumulation of Tregs in vivo. These findings demonstrate that eliglustat-loaded cryogels offer a simple yet effective biomaterial strategy to boost Treg directly in vivo, potentially providing a targeted method to treat various inflammatory and autoimmune diseases."

Journal • Preclinical • Immunology • CD4 • CXCL10 • CXCL11

Pharmacogenomics and rare diseases: optimizing drug development and personalized therapeutics. (PubMed, Pharmacogenomics) - "Case studies such as eliglustat for Gaucher disease and ivacaftor for cystic fibrosis demonstrate the efficacy of PGx-guided treatment strategies. Modernizing drug labeling with PGx information is critical to ensuring safe and effective druguse. Collectively, PGx offers transformative potential in RD therapeutics by facilitating personalized medicine approaches and addressing unmet medical needs."

Biomarker • Journal • Cystic Fibrosis • Gaucher Disease • Genetic Disorders • Immunology • Metabolic Disorders • Pulmonary Disease • Rare Diseases • Respiratory Diseases

Eliglustat and cardiac comorbidities in Gaucher disease: a pharmacogenomic approach to safety and efficacy. (PubMed, Front Med (Lausanne)) - "Unlike prior theoretical concerns derived from in vitro ion channel studies, our findings demonstrate that Eliglustat does not induce clinically significant cardiac events when administered according to pharmacogenomic guidelines. The misinformation regarding Eliglustat's cardiotoxicity, largely driven by speculative interpretations rather than clinical data, is effectively countered by our findings, which show no significant QT prolongation or arrhythmias over a median treatment duration of 8 years."

Biomarker • Journal • Atrial Fibrillation • Cardiovascular • CNS Disorders • Gaucher Disease • Genetic Disorders • Hypertension • Lysosomal Storage Diseases • Metabolic Disorders • Movement Disorders • Myocardial Infarction • Pulmonary Arterial Hypertension • Pulmonary Disease • Rare Diseases • Respiratory Diseases • Type 1 Gaucher Disease • GBA

Challenges in Gaucher disease: Perspectives from an expert panel. (PubMed, Mol Genet Metab) - "Studies of switching from ERT to eliglustat, or between different ERT products, have indicated that changing treatment is safe, although efficacy outcomes vary. A critical remaining issue is the lack of treatments capable of reaching the CNS to slow or halt the progression of neuronopathic disease in patients with GD type 2 or 3 and potentially reduce the risk of Parkinson's disease in GD type 1 patients and heterozygotes for GBA1 variants."

Journal • Review • CNS Disorders • Gaucher Disease • Genetic Disorders • Hematological Malignancies • Lymphoma • Metabolic Disorders • Monoclonal Gammopathy • Movement Disorders • Multiple Myeloma • Non-Hodgkin’s Lymphoma • Oncology • Parkinson's Disease • Pediatrics

Eliglustat substrate reduction therapy in children with Gaucher disease type 1. (PubMed, Front Pediatr) - "The therapy showed a favorable safety profile comparable to that observed in adults. These findings suggest eliglustat is a promising therapeutic option for pediatric GD1 patients, providing an effective alternative to ERT."

Journal • Gastroenterology • Gastroesophageal Reflux Disease • Gaucher Disease • Genetic Disorders • Lysosomal Storage Diseases • Metabolic Disorders • Pediatrics • Rare Diseases • Type 1 Gaucher Disease

Model-informed repurposing of eliglustat for treatment and prophylaxis of Shiga toxin-producing Escherichia coli hemolytic-uremic syndrome (STEC-HUS) in children. (PubMed, Pediatr Nephrol) - "Based on pharmacokinetic modeling, we developed oral and intravenous eliglustat dosing regimens that are likely safe and effective for treatment of STEC-HUS and prophylaxis in case of outbreaks of STEC infections. Clinical evaluation of these dosing regimens in children suspected of or diagnosed with STEC-HUS is required and should include assessment of pharmacokinetics, efficacy, and safety (e.g., ECG monitoring)."

Journal • Atypical Hemolytic Uremic Syndrome • Cardiovascular • Gaucher Disease • Genetic Disorders • Infectious Disease • Metabolic Disorders • Nephrology • Pediatrics

UPLC-MS/MS Method for Givinostat in Rat Plasma: Development, Validation, in vivo Pharmacokinetics Study and in vitro Metabolic Stability Research. (PubMed, Drug Des Devel Ther) - "This study aimed to develop and verify a quick assay for the measurement of givinostat concentration using ultra-performance liquid chromatography tandem mass spectrometry (UPLC-MS/MS) with eliglustat as the internal standard (IS), establishing a basic pharmacokinetic profile for its pre-clinical application and metabolic stability in vitro. Givinostat was rapidly absorbed and cleared slowly in vivo, and it was confirmed by in vitro experiments. This study provides a potential reference for givinostat in clinical studies."

Journal • PK/PD data • Preclinical • Hematological Malignancies • Leukemia • Multiple Myeloma • Oncology

Inhibiting UGCG prevents PRV infection by decreasing lysosome-associated autophage. (PubMed, Int J Biol Macromol) - "Finally, through in vivo evaluation, this study revealed that UGCG inhibitors, Eliglustat hemitartrate and Ibiglustat, hold promise as potential therapeutics for the treatment of PRV infection. In summary, this study preliminarily elucidates the impact of UGCG on PRV infection and its associated molecular mechanisms, suggesting UGCG could serve as a potential novel target for the prevention and treatment of viral diseases such as PRV."

Journal • Infectious Disease • Metabolic Disorders

Building Confidence in Physiologically Based Pharmacokinetic Modeling of CYP3A Induction Mediated by Rifampin: An Industry Perspective. (PubMed, Clin Pharmacol Ther) - "Case studies for three challenging DDI predictions (i.e., for eliglustat, tofacitinib, and ribociclib) are presented. PBPK modeling was shown to be an effective tool to predict induction DDIs with rifampin for CYP3A substrates with limited mechanistic complications, increasing confidence in the rifampin model. While this analysis focused on rifampin, the learnings may apply to other inducers."

Journal • PK/PD data • Review • CYP3A4

LONG-TERM SAFETY OUTCOMES OF ELIGLUSTAT IN PATIENTS WITH GAUCHER DISEASE: PROSPECTIVE, MULTICENTER, OBSERVATIONAL, POST AUTHORIZATION SAFETY SUB-REGISTRY STUDY (SSIEM 2024) - "Eliglustat was well-tolerated by GD1 patients in real-world and safety profile was consistent with that observed during clinical development."

Clinical • Back Pain • Gaucher Disease • Genetic Disorders • Infectious Disease • Metabolic Disorders • Musculoskeletal Diseases • Musculoskeletal Pain • Novel Coronavirus Disease • Pain • Pneumonia • Respiratory Diseases • Rheumatology • Type 1 Gaucher Disease