Effects of eliglustat: A Synthesis of Findings from 25 Studies

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Original Abstract of the Article

Main Research Findings

Eliglustat is a medication that is used to treat Gaucher disease, a rare genetic disorder that affects the body's ability to break down certain fats. 25 , 16 , 8 , 23 , 13 Eliglustat works by blocking the production of glucosylceramide, a type of fat that builds up in the body of people with Gaucher disease. 8 This helps to reduce the symptoms of Gaucher disease, such as fatigue, bruising, and enlarged liver and spleen. 19 , 11 Eliglustat has also been shown to improve bone density in patients with Gaucher disease. 25 , 10

Some research has shown that eliglustat may also be effective in treating other diseases, such as Fabry disease and multiple myeloma. 18 , 7 However, more research is needed to confirm these findings.

Benefits and Risks

Benefit Summary

Eliglustat has been shown to provide several benefits for patients with Gaucher disease:

  • Reduces the buildup of glucosylceramide in the body
  • Improves liver and spleen size
  • Increases platelet count and hemoglobin levels
  • Improves bone density
  • May be effective in treating other diseases, such as Fabry disease and multiple myeloma

Risk Summary

Eliglustat is generally well-tolerated but has some potential risks:

  • Can interact with other medications
  • Should not be used during pregnancy
  • May not be effective in all patients
  • Can have side effects, such as nausea, dizziness, and vomiting

Comparison Between Studies

Similarities Among Studies

Most studies on eliglustat have shown that it is a safe and effective treatment for Gaucher disease. 25 , 16 , 8 , 23 , 13 , 19 , 11 Eliglustat has been shown to improve liver and spleen size, increase platelet count and hemoglobin levels, and improve bone density. 25 , 2 , 10 However, the studies have differed in their methods and findings.

Differences Among Studies

Some studies have focused on the effects of eliglustat on specific aspects of Gaucher disease, such as the impact of hepatic or renal impairment on the medication's effectiveness. 14 Others have compared eliglustat to other treatments for Gaucher disease, such as enzyme replacement therapy. 25 Still others have looked at the potential for eliglustat to treat other diseases. 18 , 7

Consistency and Contradictions in the Results

The research on eliglustat is generally consistent in showing that it is a safe and effective treatment for Gaucher disease. 25 , 16 , 8 , 23 , 13 However, there are some contradictions in the findings. For example, some studies have shown that eliglustat is not as effective in treating Gaucher disease type 3, which is a more severe form of the disease. 15 Additionally, some studies have shown that eliglustat can interact with other medications. 22 , 21

Considerations for Real-World Application

Eliglustat is a promising treatment option for Gaucher disease. 25 , 16 However, it is important to note that it is not a cure for the disease. 13 Eliglustat may not be effective in all patients, and it can have side effects. 19 , 11 It is important to talk to your doctor about the potential benefits and risks of eliglustat before starting treatment. 4

Limitations of Current Research

The research on eliglustat is still ongoing. More research is needed to better understand the long-term effects of the medication and its effectiveness in treating different types of Gaucher disease. 3 , 4 , 19 Additionally, more research is needed to explore the potential for eliglustat to treat other diseases. 18 , 7

Future Research Directions

Future research on eliglustat should focus on understanding the long-term effects of the medication, its effectiveness in treating different types of Gaucher disease, and its potential to treat other diseases. 16 , 3 , 22 , 14 , 4 , 21 , 18 , 7

Conclusion

Eliglustat is a promising medication for treating Gaucher disease. 4 It has been shown to improve liver and spleen size, increase platelet count and hemoglobin levels, and improve bone density. 25 , 2 , 10 It is important to note that eliglustat is not a cure for Gaucher disease. 13 It may not be effective in all patients, and it can have side effects. 19 , 11 If you are considering taking eliglustat, it is important to talk to your doctor about the potential benefits and risks of the medication. 3

Literature analysis of 25 papers
Positive Content
25
Neutral Content
0
Negative Content
0
Article Type
5
1
1
2
25
2.

Once- versus twice-daily dosing of eliglustat in adults with Gaucher disease type 1: The Phase 3, randomized, double-blind EDGE trial.

Author: CharrowJoel, FragaCristina, GuXuefan, IdaHiroyuki, LongoNicola, LukinaElena, NoninoAlexandre, GaemersSebastiaan J M, JouvinMarie-Helene, LiJing, WuYaoshi, XueYong, PeterschmittM Judith

GD1 treatment
Adverse events

Once-daily dosing of eliglustat was not shown to be non-inferior to twice-daily dosing in patients with Gaucher disease type 1.

Clinical Trial, Phase IIIA Phase III trial is a trial that further rigorously verifies the efficacy and safety of a new drug or treatment, whose efficacy and safety have been confirmed in a Phase II trial, in a large number of patients, and evaluates whether it is superior to existing treatments.
Equivalence TrialA clinical trial designed to show that a new treatment is equivalent in efficacy/safety to an existing treatment.
Journal ArticleAn article published in an academic or professional journal that reports original research or scholarly analysis.
Randomized Controlled TrialA clinical trial that randomly assigns participants to treatment and control groups to evaluate the effects of an intervention.
Research Support, Non-U.S. Gov'tResearch funding provided by government agencies outside the United States.

Language : English

6.

Effect of oral eliglustat on splenomegaly in patients with Gaucher disease type 1: the ENGAGE randomized clinical trial.

Author: MistryPramod K, LukinaElena, Ben TurkiaHadhami, AmatoDominick, BarisHagit, DasoukiMajed, GhosnMarwan, MehtaAtul, PackmanSeymour, PastoresGregory, PetakovMilan, AssoulineSarit, BalwaniManisha, DandaSumita, HadjievEvgueniy, OrtegaAndres, ShankarSuma, SolanoMaria Helena, RossLeorah, AngellJennifer, PeterschmittM Judith

Improved hemoglobin levels
Improved liver volume
Improved platelet count
Improved spleen volume

Treatment with eliglustat compared with placebo for 9 months resulted in significant improvements in spleen volume, hemoglobin level, liver volume, and platelet count.

Clinical Trial, Phase IIIA Phase III trial is a trial that further rigorously verifies the efficacy and safety of a new drug or treatment, whose efficacy and safety have been confirmed in a Phase II trial, in a large number of patients, and evaluates whether it is superior to existing treatments.
Comparative StudyResearch that compares multiple groups/interventions to determine differences/similarities in outcomes/characteristics.
Journal ArticleAn article published in an academic or professional journal that reports original research or scholarly analysis.
Multicenter StudyResearch conducted in collaboration with multiple research institutions. It aims to collect a wide range of data and obtain more generalizable results.
Randomized Controlled TrialA clinical trial that randomly assigns participants to treatment and control groups to evaluate the effects of an intervention.
Research Support, Non-U.S. Gov'tResearch funding provided by government agencies outside the United States.

Language : English

8.

Increased hepatic insulin action in diet-induced obese mice following inhibition of glucosylceramide synthase.

Author: YewNelson S, ZhaoHongmei, HongEun-Gyoung, WuI-Huan, PrzybylskaMalgorzata, SiegelCraig, ShaymanJames A, ArbeenyCynthia M, KimJason K, JiangCanwen, ChengSeng H

Decreased hepatic steatosis
Improved glucose metabolism

This study investigated the efficacy of Genz-112638, a glucosylceramide synthase inhibitor, in a diet-induced obese (DIO) mouse model. The study builds upon previous findings demonstrating the beneficial effects of glucosylceramide synthase inhibition on glucose metabolism and hepatic steatosis in obese mice.

Journal ArticleAn article published in an academic or professional journal that reports original research or scholarly analysis.
Research Support, Non-U.S. Gov'tResearch funding provided by government agencies outside the United States.

Language : English

9.

Safety, tolerability, and pharmacokinetics of eliglustat tartrate (Genz-112638) after single doses, multiple doses, and food in healthy volunteers.

Author: PeterschmittM Judith, BurkeAmy, BlanksteinLarry, SmithSharon E, PugaAna Cristina, KramerWilliam G, HarrisJames A, MathewsDavid, BonatePeter L

Dizziness
Nausea
Vomiting

This abstract summarizes the results of three phase 1 studies of eliglustat tartrate (Genz-112638), an oral inhibitor of glucosylceramide synthase under development for treating Gaucher disease type 1 (GD1). The studies evaluated the safety, tolerability, and pharmacokinetics in healthy volunteers after escalating single doses, escalating multiple doses, and food.

Clinical Trial, Phase IThe first stage of clinical trials in humans. Evaluates the safety, tolerability, and pharmacokinetics of a new drug/treatment.
Journal ArticleAn article published in an academic or professional journal that reports original research or scholarly analysis.
Randomized Controlled TrialA clinical trial that randomly assigns participants to treatment and control groups to evaluate the effects of an intervention.
Research Support, Non-U.S. Gov'tResearch funding provided by government agencies outside the United States.

Language : English

10.

Long-term effects of eliglustat on skeletal manifestations in clinical trials of patients with Gaucher disease type 1.

Author: CoxTimothy M, CharrowJoel, LukinaElena, MistryPramod K, FosterMeredith C, PeterschmittM Judith

Improved bone density
Reduced bone marrow burden
Reduced bone pain

A long-term study of 319 patients with Gaucher disease type 1 found that eliglustat treatment was effective in reducing skeletal complications in both treatment-naive patients and those switching from enzyme replacement therapy. Bone pain, bone marrow burden, and MIP-1β levels all decreased significantly during treatment.

Journal ArticleAn article published in an academic or professional journal that reports original research or scholarly analysis.
Research Support, Non-U.S. Gov'tResearch funding provided by government agencies outside the United States.

Language : English

11.

Eliglustat, an investigational oral therapy for Gaucher disease type 1: Phase 2 trial results after 4 years of treatment.

Author: LukinaElena, WatmanNora, DragoskyMarta, PastoresGregory M, ArreguinElsa Avila, RosenbaumHanna, ZimranAri, AngellJennifer, RossLeorah, PugaAna Cristina, PeterschmittJudith M

Gaucher disease treatment
Improved bone density
Improved hemoglobin
Reduced spleen/liver volume
Mild adverse events

Eliglustat is an investigational drug used to treat Gaucher disease type 1 (GD1). This study reported the safety and efficacy of eliglustat after 4 years of treatment in treatment-naïve patients with GD1.

Clinical Trial, Phase IIA Phase II trial is a trial that further evaluates the efficacy and safety of a new drug or treatment, whose safety has been confirmed to some extent in a Phase I trial, in a small number of patients.
Journal ArticleAn article published in an academic or professional journal that reports original research or scholarly analysis.
Research Support, Non-U.S. Gov'tResearch funding provided by government agencies outside the United States.

Language : English

13.

A Review of Gaucher Disease Pathophysiology, Clinical Presentation and Treatments.

Author: StirnemannJérôme, BelmatougNadia, CamouFabrice, SerratriceChristine, FroissartRoseline, CaillaudCatherine, LevadeThierry, AstudilloLeonardo, SerratriceJacques, BrassierAnaïs, RoseChristian, Billette de VillemeurThierry, BergerMarc G

Gaucher disease treatment
Bone lesions
Cytopenia
Hepatomegaly
Neurological impairment
Parkinson's disease
Splenomegaly

Gaucher disease (GD) is a rare, autosomal recessive genetic disorder caused by a deficiency of the lysosomal enzyme glucocerebrosidase. This review provides an overview of GD, including its incidence, clinical manifestations, diagnosis, and treatment options, emphasizing the role of enzyme replacement therapy and glucosylceramide biosynthesis inhibitors.

Journal ArticleAn article published in an academic or professional journal that reports original research or scholarly analysis.
ReviewAn article that critically examines existing research on a particular topic and summarizes the current state of knowledge in the field.

Language : English

14.

Impact of hepatic and renal impairment on the pharmacokinetics and tolerability of eliglustat therapy for Gaucher disease type 1.

Author: LiJing, ChenJun, KanamaluruVanaja, GaemersSebastiaan J M, PeterschmittM Judith, HouAudrey W, XueYong, TurpaultSandrine, RudinDan

Gaucher Disease

This article reviews the use of eliglustat, an oral therapy for Gaucher disease type 1 (GD1), in patients with hepatic or renal impairment. Phase 1 studies and a physiologically-based pharmacokinetic model were used to evaluate the impact of these impairments on eliglustat pharmacokinetics and tolerability, leading to revisions in the drug label.

Clinical Trial, Phase IThe first stage of clinical trials in humans. Evaluates the safety, tolerability, and pharmacokinetics of a new drug/treatment.
Journal ArticleAn article published in an academic or professional journal that reports original research or scholarly analysis.
Multicenter StudyResearch conducted in collaboration with multiple research institutions. It aims to collect a wide range of data and obtain more generalizable results.
Research Support, Non-U.S. Gov'tResearch funding provided by government agencies outside the United States.

Language : English

15.

Optimization of Eliglustat-Based Glucosylceramide Synthase Inhibitors as Substrate Reduction Therapy for Gaucher Disease Type 3.

Author: WilsonMichael W, ShuLiming, Hinkovska-GalchevaVania, JinYafei, RajeswaranWalajapet, AbeAkira, ZhaoTing, LuoRuijuan, WangLu, WenBo, LiouBenjamin, FanninVenette, SunDuxin, SunYing, ShaymanJames A, LarsenScott D

Brain GlcCer reduction

A new drug candidate, CCG-222628, has been developed for treating neuronopathic glycosphingolipid storage diseases, such as Sandhoff, Tay-Sachs, and Gaucher disease type 3. This drug significantly improved brain exposure compared to previous candidates, showing a 60-fold increase in potency at reducing brain GlcCer in normal mice. In a mouse model of Gaucher disease type 3, CCG-222628 demonstrated comparable efficacy to venglustat, a clinical candidate from Sanofi, at a significantly lower brain exposure.

Journal ArticleAn article published in an academic or professional journal that reports original research or scholarly analysis.
Research Support, N.I.H., ExtramuralResearch funding provided by the NIH to external research institutions and researchers.

Language : English

16.

Property-based design of a glucosylceramide synthase inhibitor that reduces glucosylceramide in the brain.

Author: LarsenScott D, WilsonMichael W, AbeAkira, ShuLiming, GeorgeChristopher H, KirchhoffPaul, ShowalterH D Hollis, XiangJianming, KeepRichard F, ShaymanJames A

Gaucher disease treatment

CCG-203586, a new analog of eliglustat tartrate, was found to inhibit glucosylceramide synthase and reduce brain glucosylceramide content, showing potential for treating glycosphingolipid storage diseases with CNS manifestations.

Journal ArticleAn article published in an academic or professional journal that reports original research or scholarly analysis.
Research Support, N.I.H., ExtramuralResearch funding provided by the NIH to external research institutions and researchers.
Research Support, Non-U.S. Gov'tResearch funding provided by government agencies outside the United States.

Language : English

17.

Eliglustat prevents Shiga toxin 2 cytotoxic effects in human renal tubular epithelial cells.

Author: SánchezDaiana S, Fischer SigelLilian K, BalestracciAlejandro, IbarraCristina, AmaralMaría M, SilbersteinClaudia

HUS prevention
EG side effects

This study aims to investigate the potential of eliglustat, a glucosylceramide synthase inhibitor, to protect human renal epithelial cells from damage caused by Shiga toxin 2.

Journal ArticleAn article published in an academic or professional journal that reports original research or scholarly analysis.
Research Support, Non-U.S. Gov'tResearch funding provided by government agencies outside the United States.

Language : English

18.

Dissociation of globotriaosylceramide and impaired endothelial function in α-galactosidase-A deficient EA.hy926 cells.

Author: KaissarianNayiri, KangJustin, ShuLiming, FerrazMaria J, AertsJohannes M, ShaymanJames A

Fabry disease treatment
Eliglustat side effects
Vascular dysfunction

This study investigated the effects of GLA deficiency on endothelial nitric oxide synthase (eNOS) function in Fabry disease. Results suggest that eNOS uncoupling is due to GLA deficiency and not necessarily due to elevated Gb3.

Journal ArticleAn article published in an academic or professional journal that reports original research or scholarly analysis.
Research Support, N.I.H., ExtramuralResearch funding provided by the NIH to external research institutions and researchers.

Language : English

19.

Eliglustat maintains long-term clinical stability in patients with Gaucher disease type 1 stabilized on enzyme therapy.

Author: CoxTimothy M, DrelichmanGuillermo, CravoRenata, BalwaniManisha, BurrowThomas Andrew, MartinsAna Maria, LukinaElena, RosenbloomBarry, Goker-AlpanOzlem, WatmanNora, El-BeshlawyAmal, KishnaniPriya S, PedrosoMaria Lucia, GaemersSebastiaan J M, TayagRegina, PeterschmittM Judith

Stable hemoglobin
Stable liver volume
Stable platelet counts
Stable spleen volume

This study reports the long-term safety and efficacy of eliglustat, an oral medication for treating Gaucher disease, in patients who participated in the ENCORE trial. After a year of receiving eliglustat, patients continued receiving the medication for an additional 4 years. The study found that eliglustat was well-tolerated and maintained clinical stability for up to 4 years.

Clinical Trial, Phase IIIA Phase III trial is a trial that further rigorously verifies the efficacy and safety of a new drug or treatment, whose efficacy and safety have been confirmed in a Phase II trial, in a large number of patients, and evaluates whether it is superior to existing treatments.
Journal ArticleAn article published in an academic or professional journal that reports original research or scholarly analysis.
Randomized Controlled TrialA clinical trial that randomly assigns participants to treatment and control groups to evaluate the effects of an intervention.
Research Support, Non-U.S. Gov'tResearch funding provided by government agencies outside the United States.

Language : English

21.

Effect of eliglustat on the pharmacokinetics of digoxin, metoprolol, and oral contraceptives and absorption of eliglustat when coadministered with acid-reducing agents.

Author: ThibaultNathan, IbrahimJennifer, PeterschmittM Judith, PugaAna Cristina, RossLeorah, VuLucie, XueYong, TurpaultSandrine

Gaucher disease treatment
Drug-drug interactions

This study evaluated the potential for drug-drug interactions between eliglustat, a substrate reduction therapy for Gaucher disease type 1, and various medications. It found that eliglustat may increase exposure to digoxin and metoprolol, but it can be coadministered with oral contraceptives and acid-reducing agents without dose modifications.

Clinical Trial, Phase IThe first stage of clinical trials in humans. Evaluates the safety, tolerability, and pharmacokinetics of a new drug/treatment.
Journal ArticleAn article published in an academic or professional journal that reports original research or scholarly analysis.
Multicenter StudyResearch conducted in collaboration with multiple research institutions. It aims to collect a wide range of data and obtain more generalizable results.
Randomized Controlled TrialA clinical trial that randomly assigns participants to treatment and control groups to evaluate the effects of an intervention.
Research Support, Non-U.S. Gov'tResearch funding provided by government agencies outside the United States.

Language : English

22.

Effects of paroxetine, ketoconazole, and rifampin on the metabolism of eliglustat, an oral substrate reduction therapy for Gaucher disease type 1.

Author: VuLucie, CoxGerald F, IbrahimJennifer, PeterschmittM Judith, RossLeorah, ThibaultNathan, TurpaultSandrine

Gaucher disease treatment
Drug interactions

Eliglustat is a medication used to treat Gaucher disease type 1. This review article discusses the pharmacokinetic interactions of eliglustat with CYP2D6 and CYP3A inhibitors and inducers.

Journal ArticleAn article published in an academic or professional journal that reports original research or scholarly analysis.

Language : English

23.

A Systematic Review and Meta-analyses of Longitudinal Studies on Drug Treatments for Gaucher Disease.

Author: LeonartLetícia Paula, FachiMariana M, BögerBeatriz, SilvaMariana Ribeiro da, SzpakRenata, LombardiNatália Fracaro, PedrosoMaria Lucia Alves, PontaroloRoberto

Improved GD treatment

This systematic review assessed the effectiveness of treatments for Gaucher disease (GD). Enzyme replacement therapy (ERT) was effective for both naïve and experienced patients. Miglustat did not significantly improve blood outcomes in naïve patients and reduced platelet levels in experienced patients. Eliglustat, mainly assessed for experienced patients, resulted in stable outcomes.

Meta-AnalysisA statistical technique that integrates the results of multiple studies to draw more general conclusions about a particular issue.
Systematic ReviewA review that systematically collects, evaluates, and integrates relevant research to answer a specific research question.
Journal ArticleAn article published in an academic or professional journal that reports original research or scholarly analysis.
Research Support, Non-U.S. Gov'tResearch funding provided by government agencies outside the United States.

Language : English

24.

Carcinogenicity testing of eliglustat in mice and rats.

Author: DagherRafif, WatzingerMalene, ChevalierGuillaume, Thirion-DelalandeCatherine, GervaisFrederic, ForsterRoy

Effective GD1 treatment

Eliglustat, a glucosylceramide synthase inhibitor for type 1 Gaucher disease, was not carcinogenic to mice or rats in lifetime carcinogenicity bioassays.

Journal ArticleAn article published in an academic or professional journal that reports original research or scholarly analysis.
Research Support, Non-U.S. Gov'tResearch funding provided by government agencies outside the United States.

Language : English

25.

Cellular and biochemical response to chaperone versus substrate reduction therapies in neuropathic Gaucher disease.

Author: IvanovaMargarita M, DaoJulia, KasaciNeil, AdewaleBenjamin, NazariShaista, NollLauren, FikryJacqueline, SanatiArmaghan Hafez, Goker-AlpanOzlem

Autophagy improvement
GCase activity enhancement
Mitochondrial function enhancement

Gaucher disease (GD) is a lysosomal storage disorder caused by glucocerebrosidase (GCase) deficiency. Mutations in the GBA gene lead to GCase misfolding and accumulation of glucosylceramide (GC), causing lysosomal dysfunction and autophagy impairment. GD types 2 and 3 (GD2-3) are neuronopathic forms with CNS, systemic, and bone involvement. Enzyme replacement therapy (ERT) successfully treats hematologic manifestations, but its limited organ distribution restricts its effectiveness on the nervous system and bone. Ambroxol (AMB) is a pharmacologic chaperone that enhances GCase activity and crosses the blood-brain barrier, while eliglustat (EGT), a substrate reduction therapy, reduces GC biosynthesis. This study investigated the effects of EGT and AMB on GCase activity and autophagy-lysosomal pathway in primary cell lines from GD2-3 patients. Both EGT and AMB improved GCase activity, lysosomal function, autophagy, and mitochondrial function in GD2-3 fibroblasts, suggesting their potential as therapeutic agents for neuronopathic forms of GD.

Journal ArticleAn article published in an academic or professional journal that reports original research or scholarly analysis.

Language : English

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