Cerezyme (imiglucerase) / Sanofi - LARVOL DELTA

LEAP2MONO Subgroup Analyses Demonstrate Neurologic Efficacy With Venglustat While Maintaining Systemic Control in GD3 (SSIEM 2026) - P3 | "Subgroup analyses showed a consistent direction of treatment effect across prespecified strata. Notably, a more pronounced effect was observed in patients <18 years of age."

Clinical • Ataxia • CNS Disorders • Epilepsy • Gaucher Disease • Genetic Disorders • Metabolic Disorders • Movement Disorders

Cognition and Ataxia Benefits of Venglustat in GD3: Prespecified Analyses of Neurologic Endpoints in LEAP2MONO (SSIEM 2026) - P3 | "LEAP2MONO efficacy analyses demonstrate clinically meaningful neurologic benefits with venglustat across cognitive and motor functions. The observed pattern, including population-level improvement and consistent domain-level effects, supports a disease-modifying effect on neurologic trajectory in GD3. Greater response magnitude in younger patients supports earlier intervention."

Ataxia • Movement Disorders

VENGLUSTAT DEMONSTRATES SUPERIOR NEUROLOGIC EFFICACY WHILE MAINTAINING SYSTEMIC CONTROL IN GAUCHER DISEASE TYPE 3: RESULTS FROM THE PHASE 3 LEAP2MONO TRIAL (EHA 2026) - P3 | "Summary/Conclusion LEAP2MONO is the first trial evaluating the brain-penetrant glucosylceramide synthase inhibitor VEN, in pediatric and adult pts with GD3. The trial demonstrates that VEN controls both CNS and systemic manifestations of GD3."

Clinical • P3 data • Ataxia • CNS Disorders • Gaucher Disease • Genetic Disorders • Metabolic Disorders • Movement Disorders • Musculoskeletal Pain • Orthopedics • Rare Diseases

Diagnosis and follow-up of the first case of Gaucher disease under enzyme replacement therapy in Senegal. (PubMed, Ghana Med J) - "Long-term follow-up studies remain necessary to further evaluate the efficacy and safety of enzyme replacement therapy in this setting. None declared."

Journal • Gaucher Disease • Genetic Disorders • Metabolic Disorders • GBA • GBA1

The global impact of imiglucerase therapy in children with Gaucher disease types 1 and 3: a real-world analysis from the International Collaborative Gaucher Group Gaucher Registry. (PubMed, Orphanet J Rare Dis) - No abstract available

Journal • Real-world evidence • Gaucher Disease • Genetic Disorders • Metabolic Disorders • Type 1 Gaucher Disease

Maternal and Fetal Outcomes in Imiglucerase-Treated Patients With Gaucher Disease: Real-World Evidence From the International Collaborative Gaucher Group (ICGG) Gaucher Registry Pregnancy Sub-Registry. (PubMed, J Inherit Metab Dis) - P | "Among 74 infants with data, neonatal complications were reported for seven infants (9.5%). Most pregnancies to women with GD treated with imiglucerase resulted in live births and healthy infants, with risk of spontaneous abortions similar to that of the general population (12%-18%)."

HEOR • Journal • Real-world evidence • Gaucher Disease • Genetic Disorders • Hematological Disorders • Metabolic Disorders • Thrombocytopenia

Blood-Brain-Barrier Disruption With Cerezyme in Patient's With Parkinson's Disease (clinicaltrials.gov) - P=N/A | N=4 | Completed | Sponsor: InSightec | Active, not recruiting ➔ Completed

Trial completion • CNS Disorders • Movement Disorders • Parkinson's Disease

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

Pregnancy outcomes in imiglucerase-treated patients with Gaucher disease: real-world data from the International Collaborative Gaucher Group (ICGG) Gaucher Registry Pregnancy Sub-Registry (SSIEM 2023) - P | "The majority of pregnancies in imiglucerase-treated women resulted in live births and healthy neonates. Spontaneous abortion frequency is aligned with published general population rates (11.4–22%). For imiglucerase, both EMA and FDA recommend ERT before and during pregnancy."

Clinical • Real-world • Real-world evidence • Gaucher Disease • Genetic Disorders • Hematological Disorders • Hepatology • Metabolic Disorders • Thrombocytopenia

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

Systemically delivered lipid nanoparticle-mRNA encoding lysosomal acid β-glucosidase restores the enzyme deficiency in a murine Gaucher disease model. (PubMed, Gene Ther) - "The therapeutic effect of JCXH-301 was sustained for a duration significantly longer than that of protein-based ERT Cerezyme. JCXH-301 administration induced minimal pro-inflammatory cytokines in the liver and spleen. Taken together, these results provide proof-of-concept for using LNP-delivered mRNA as a new drug modality to restore the β-GCase genetic deficiency for GD treatment."

Journal • Preclinical • Gaucher Disease • Genetic Disorders • Metabolic Disorders

A Randomized, Double-Blind, 2-Treatment, 2-Period, Crossover Phase 1 Study to Compare the Pharmacokinetics, Safety and Tolerability of 60 IU/Kg of Abcertin and Cerezyme in Healthy Volunteers Following a Single Intravenous Administration. (PubMed, Mol Genet Genomic Med) - "Abcertin demonstrated pharmacokinetic equivalence to Cerezyme, with a comparable safety, immunogenicity, and tolerability profile. These findings support its potential as an affordable biosimilar for GD treatment."

Clinical • Journal • P1 data • PK/PD data • Dermatology • Gaucher Disease • Genetic Disorders • Immunology • Infectious Disease • Metabolic Disorders • Nephrology • Pain • Urticaria

LEAP: Venglustat in Combination With Cerezyme in Adult Patients With Gaucher Disease Type 3 With Venglustat Monotherapy Extension (clinicaltrials.gov) - P2 | N=12 | Active, not recruiting | Sponsor: Genzyme, a Sanofi Company | Trial completion date: Sep 2025 ➔ Oct 2026 | Trial primary completion date: Sep 2025 ➔ Oct 2026

Monotherapy • Trial completion date • Trial primary completion date • Gaucher Disease • Genetic Disorders • Metabolic Disorders • Type 1 Gaucher Disease • GBA

Different and unusual presentation of Gaucher's disease with the same mutation in the glucocerebrosidase enzyme (F266L) in two patients: a case report. (PubMed, J Med Case Rep) - "This report highlights the importance of recognizing the unusual presentation of Gaucher's disease especially in regions with high rates of consanguineous marriage and thalassemia. This knowledge can aid physicians in making accurate diagnoses and providing appropriate treatment."

Journal • Chronic Cough • Cough • Gaucher Disease • Genetic Disorders • Hepatology • Liver Failure • Lysosomal Storage Diseases • Metabolic Disorders • Pulmonary Disease • Rare Diseases • Respiratory Diseases • Type 1 Gaucher Disease

LEAP2MONO: Study to Evaluate the Efficacy and Safety of Venglustat in Adult and Pediatric Patients With Gaucher Disease Type 3 (clinicaltrials.gov) - P3 | N=43 | Active, not recruiting | Sponsor: Sanofi | Recruiting ➔ Active, not recruiting

Enrollment closed • Gaucher Disease • Genetic Disorders • Metabolic Disorders • Pediatrics • Type 1 Gaucher Disease • GBA

EFFICACY AND SAFETY OF IMIGLUCERASE IN CHINESE PATIENTS WITH GAUCHER DISEASE TYPE 3: A SINGLE-ARM, PROSPECTIVE PHASE-IV STUDY (SSIEM 2024) - P4 | "Discussion/Conclusion This first comprehensive study of imiglucerase in Chinese GD3 patients demonstrates that imiglucerase is effective in improving blood and visceral manifestations, mitigated bone disease, and is well-tolerated. Palavras-chave : GD3, imiglucerase, efficacy, safety, phase IV study"

Clinical • P4 data • Gaucher Disease • Genetic Disorders • Hematological Disorders • Infectious Disease • Lysosomal Storage Diseases • Metabolic Disorders • Musculoskeletal Pain • Novel Coronavirus Disease • Orthopedics • Pain • Pediatrics • Rare Diseases

A RANDOMIZED, DOUBLE-BLIND, 2-TREATMENT, 2-PERIOD, CROSSOVER PHASE 1 STUDY TO COMPARE THE PHARMACOKINETICS, SAFETY AND TOLERABILITY OF ABCERTIN AND CEREZYME® (SSIEM 2024) - "Similar pharmacokinetic, safety and immunogenicity profiles were observed between Abcertin and Cerezyme, suggesting good tolerability of both imiglucerases in healthy subjects."

Clinical • P1 data • PK/PD data • Dermatology • Gaucher Disease • Genetic Disorders • Immunology • Infectious Disease • Metabolic Disorders • Nephrology • Pain • Urticaria

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

SAFETY AND PHARMACOKINETICS OF ELIGLUSTAT ADMINISTERED WITH AND WITHOUT IMIGLUCERASE IN PAEDIATRIC PATIENTS WITH GAUCHER DISEASE TYPE 1/3: ELIKIDS STUDY (SSIEM 2024) - P3 | "Eliglustat was well tolerated in paediatric participants with GD1 and GD3. The safety profile of eliglustat observed in paediatric participants with GD1 and GD3 is in line with the established safety profile seen in adults with GD1. PK exposure is aligned with the target exposure seen in the adult eliglustat clinical trials."

Clinical • PK/PD data • Gaucher Disease • Genetic Disorders • Metabolic Disorders • Pediatrics • Type 1 Gaucher Disease

PREGNANCY OUTCOMES IN IMIGLUCERASE-TREATED PATIENTS WITH GAUCHER DISEASE: REAL-WORLD DATA FROM INTERNATIONAL COLLABORATIVE GAUCHER GROUP (ICGG) GAUCHER REGISTRY PREGNANCY SUB-REGISTRY (SSIEM 2024) - "Most imiglucerase-treated women had live births and healthy neonates. Spontaneous abortion frequency is aligned with published general population rates (12%–24%)."

Clinical • Real-world • Real-world evidence • Anemia • Gaucher Disease • Genetic Disorders • Hematological Disorders • Metabolic Disorders • Thrombocytopenia

EFFICACY OF ELIGLUSTAT ADMINISTERED WITH AND WITHOUT IMIGLUCERASE IN PAEDIATRIC PATIENTS WITH GAUCHER DISEASE TYPE 1 OR 3: ELIKIDS STUDY (SSIEM 2024) - P3 | "The majority of study participants who received eliglustat monotherapy and eliglustat in combination with imiglucerase maintained Gaucher-related clinical parameters within the prespecified therapeutic goals during the 52-week PAP."

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

Potential Targeting Mechanisms for Bone-Directed Therapies. (PubMed, Int J Mol Sci) - "Although direct recombinant enzymes (e.g., Vimizim for Morquio, Cerezyme for Gaucher, Elaprase for Hunter, Mepsevii for Sly diseases) or hormone infusions (estrogen for osteoporosis and osteoarthritis), traditional gene delivery (e.g., direct infusion of viral or non-viral vectors with no modifications on capsid, envelope, or nanoparticles), and cell therapy strategies (healthy bone marrow or hematopoietic stem cell transplantation) partially improve bone lesions, novel delivery methods must be addressed regarding target specificity, less immunogenicity, and duration in circulation. Targeted drug delivery using organic and inorganic compounds is a promising approach in mostly preclinical settings and future clinical translation. This review comprehensively summarizes the current bone-targeting strategies based on bone structure and remodeling concepts while emphasizing potential approaches for future bone-targeting systems."

Journal • Review • Bone Marrow Transplantation • Immunology • Osteoarthritis • Osteoporosis • Pain • Rheumatology • Transplantation

LONG-TERM SAFETY OUTCOMES OF ELIGLUSTAT IN PATIENTS WITH GAUCHER DISEASE: PROSPECTIVE, MULTICENTER, OBSERVATIONAL, POST AUTHORIZATION SAFETY SUB-REGISTRY STUDY (EHA 2024) - "Eliglustat was well-tolerated by GD1 patients in real-world and safety profile wasconsistent with that observed during clinical development. Table 1. Exposure-adjusted incidence rate of AEs and SAEs for any eliglustat and imiglucerase treatments"

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

SAFETY, PHARMACOKINETICS, AND EFFICACY OF ELIGLUSTAT ADMINISTERED WITH AND WITHOUT IMIGLUCERASE IN PAEDIATRIC PARTICIPANTS WITH GAUCHER DISEASE TYPE 1 OR 3: THE ELIKIDS STUDY (EHA 2024) - P3 | "Eliglustat was well tolerated in paediatric participants with GD1 and GD3 and no new safety issues wereidentified during the PAP."

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

Qualitative Study of the Patient Experience with Venglustat for Gaucher Disease Type 3 in a Phase 2 Open-Label, Multicenter, Multinational Study (LEAP). (PubMed, Adv Ther) - P2 | "Outcomes from this study provide insights into GD3 symptoms and the early signaling of changes reported during venglustat therapy."

Journal • P2 data • Ataxia • CNS Disorders • Dystonia • Epilepsy • Gaucher Disease • Genetic Disorders • Lysosomal Storage Diseases • Metabolic Disorders • Movement Disorders • Ophthalmology • Rare Diseases