Cerdelga (eliglustat tartrate) / Sanofi - LARVOL DELTA

Repurposing Gaucher disease therapy for Saposin C deficiency: Proof-of-concept with eliglustat. (PubMed, Mol Genet Metab) - "A 47-year-old patient with PSAP mutations causing Sap C deficiency who presented with features similar to those seen in GD, has received Eliglustat over the course of 9 years, demonstrating an improvement in her hepatosplenomegaly, haematological parameters, biomarkers and bone density, providing proof-of-concept that Eliglustat can be of benefit when the GCase cofactor is deficient. However, no improvement was observed in the patient's seizure activity where future brain penetrant molecules may be of benefit."

Journal • Review • CNS Disorders • Epilepsy • Gaucher Disease • Genetic Disorders • Hematological Disorders • Metabolic Disorders • GBA1 • PSAP

Targeting UGCG sensitizes AML cells to venetoclax through RAB32-mediated endoplasmic reticulum-mitochondria communication. (PubMed, Cell Rep) - "Here, we found that the inhibition of UGCG genetically or with its inhibitor eliglustat efficiently suppressed growth and promoted apoptosis in AML cells. Interestingly, combinatory treatment activated RAB32, which led to mitochondrial fission through ER-mitochondria communication and DRP1 activation. These findings demonstrate that targeting UGCG in combination with venetoclax is an alternative combinatory strategy to treat AML and provide insights into ceramide-mediated cell death in anti-cancer therapies."

Journal • Acute Myelogenous Leukemia • Hematological Malignancies • Leukemia • Oncology • Solid Tumor • HSPA5 • RAB32

Eliglustat prevents acute kidney injury caused by Shiga toxin 2 in lethal and sublethal rat models of hemolytic uremic syndrome. (PubMed, Front Pharmacol) - "The effectiveness of EG treatment depended on the dose and the pretreatment time. The oral treatment with EG could be a therapeutic strategy to prevent the action of Stx2 and the development of acute kidney injury in diarrhea-associated HUS patients."

Journal • Preclinical • Acute Kidney Injury • Atypical Hemolytic Uremic Syndrome • Glomerulonephritis • Nephrology • Renal Disease • AQP1 • LCN2

Asymmetric Total Syntheses of Eliglustat and C2-epi-Eliglustat. (PubMed, J Org Chem) - "It is worth noting that the structure of dibenzyl acetals plays a key role in the stereochemical outcome of some of these reactions, as supported by theoretical calculations. Overall, this strategy enables the independent manipulation of the amino and hydroxy functional groups and favors the isolation of enantiomerically pure products."

Journal

GSL Synthetase Inhibitor Plus Immune Checkpoint Inhibitor and/or Regorafenib in Previously Treated pMMR/MSS CRC. (clinicaltrials.gov) - P2 | N=120 | Recruiting | Sponsor: Chinese PLA General Hospital | Not yet recruiting ➔ Recruiting | Trial completion date: Aug 2027 ➔ Mar 2029 | Trial primary completion date: Aug 2026 ➔ Mar 2027

Checkpoint inhibition • Enrollment open • IO biomarker • pMMR • Trial completion date • Trial primary completion date • Colorectal Cancer • Oncology • Solid Tumor

Adverse Event Profile Differences Between Eliglustat and Miglustat: A Pharmacovigilance Study using the U.S. Food and Drug Administration Adverse Event Reporting System. (PubMed, Drug Res (Stuttg)) - "Notably, male patients treated with eliglustat have the significantly higher incidence of weight increase and dry skin. Female patients treated with miglustat have the significantly higher incidence of dysphagia and cognitive disorder.In the clinical administration of eliglustat and miglustat, clinicians need to monitor the effects of adverse events varied by gender and to pay more attention to new adverse event signals."

Adverse events • Journal • Atopic Dermatitis • CNS Disorders • Cognitive Disorders • Dermatology • Developmental Disorders • Dyspepsia • Gastrointestinal Disorder • Immunology • Vitiligo

ELIKIDS: Safety and Efficacy of Eliglustat With or Without Imiglucerase in Pediatric Patients With Gaucher Disease (GD) Type 1 and Type 3 (clinicaltrials.gov) - P3 | N=57 | Completed | Sponsor: Sanofi | Active, not recruiting ➔ Completed

Trial completion • Gaucher Disease • Genetic Disorders • Metabolic Disorders • Pediatrics • Type 1 Gaucher Disease • GBA

GSL Synthetase Inhibitor Eliglustat Combined With CD30 Target Immunotherapy for the Treatment of of CD30+ Lymphoma (clinicaltrials.gov) - P1/2 | N=40 | Recruiting | Sponsor: Chinese PLA General Hospital | Not yet recruiting ➔ Recruiting | Initiation date: Sep 2025 ➔ Dec 2025

Enrollment open • IO biomarker • Trial initiation date • Hematological Malignancies • Lymphoma • Oncology

Cytokine-driven glycosphingolipid metabolism modulates endoplasmic reticulum calcium homeostasis in primary human renal mesangial cells. (PubMed, Front Immunol) - "Pharmacological inhibition of GSL synthesis with eliglustat significantly reduced HexCers levels and restored ER Ca2+ stores, but did not impact cytokine-induced cytokine/chemokine secretion or cell viability/proliferation. Together, these data suggest that elevated GSL synthesis modulates cytokine-induced ER Ca2+ dysregulation in mesangial cells and may play a role in the pathogenesis of lupus nephritis."

Journal • Glomerulonephritis • Immunology • Inflammatory Arthritis • Lupus • Lupus Nephritis • Metabolic Disorders • Nephrology • IFNA1 • IFNG • IL1B • TNFA

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