Effective treatment of gaucher disease: A Synthesis of Findings from 15 Studies

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Original Abstract of the Article

Key Research Findings

Gaucher disease (GD) is a rare genetic disorder caused by a deficiency in the enzyme glucocerebrosidase, which leads to the accumulation of certain fats in the liver, spleen, and bone marrow. 11 , 12 , 14 , 15 , 2 , 3 , 7 , 9 , 5 , 6 , 4 , 1 , 8

Glucosylsphingosine (lyso-GL1) is a biomarker used to monitor disease and treatment response in GD. 10 , 14

In adults, higher values of lyso-GL1 are associated with increased disease progression. 10

Treatment options for GD include enzyme replacement therapy (ERT), hematopoietic stem cell transplantation (HSCT), substrate reduction therapy (SRT), and, for some, gene therapy. 11 , 9 , 5 , 2 , 3 , 7

Eliglustat is a substrate reduction therapy that has shown promise in overcoming the limitations of ERT. 13 , 8

Velaglucerase alfa is an ERT that has been shown to achieve therapeutic goals and normalize disease parameters in treatment-naïve patients with type 1 GD. 6

Treatment Summary

Treatment for GD can involve ERT, HSCT, and SRT. 2 , 3 , 7 , 9 , 5

Eliglustat is a promising SRT that has been shown to overcome the limitations of ERT. 13 , 8

Velaglucerase alfa is an effective ERT that has been shown to achieve therapeutic goals and normalize disease parameters in treatment-naïve patients with type 1 GD. 6

Benefits and Risks

Benefit Summary

ERT has been shown to significantly decrease lipid storage in the liver, spleen, and bone marrow, and improve symptoms in patients with GD. 1

Velaglucerase alfa is an effective ERT that has been shown to achieve therapeutic goals and normalize disease parameters in treatment-naïve patients with type 1 GD. 6

Eliglustat has shown promise in overcoming the limitations of ERT and has been effective in many patients. 13

HSCT may offer long-term benefits in the regression of skeletal and neurological changes in people with GD. 2 , 3 , 7

Risk Summary

HSCT is a high-risk procedure. 2 , 3 , 7

Eliglustat has different risks of side effects depending on the CYP2D6 metabolizer phenotype. 8

Comparison of Studies

Commonalities

Many studies have shown that ERT can improve symptoms and normalize disease parameters in patients with GD.

Differences

Different studies have used different ERT medications and methods for evaluating treatment efficacy.

Consistency and Discrepancies in Findings

While many studies have shown the effectiveness of ERT in improving symptoms and normalizing disease parameters in patients with GD, there is limited research on other treatment options like HSCT and SRT.

Implications for Everyday Life

Treatment for GD is individualized and depends on the patient's specific condition and response to treatment. Consulting with a physician is crucial to choose the right treatment approach.

Limitations of Current Research

More research is needed on treatment options for GD, particularly on the effectiveness and safety of new therapies like HSCT and SRT. Long-term treatment effects and side effects also require further investigation.

Future Research Directions

Further research is necessary to assess the effectiveness and safety of new treatment options for GD, such as HSCT and SRT. Research on long-term treatment effects and side effects is also needed.

Conclusion

ERT is an effective treatment option for improving symptoms and normalizing disease parameters in patients with GD. However, research on other treatment options like HSCT and SRT is limited. More research on treatment options for GD is required.

GD is a treatable disease. Early diagnosis and appropriate treatment can slow disease progression and improve quality of life.

List of Treatments

Enzyme replacement therapy (ERT), substrate reduction therapy (SRT), hematopoietic stem cell transplantation (HSCT)

Literature analysis of 15 papers
Positive Content
15
Neutral Content
0
Negative Content
0
Article Type
3
2
6
5
13
1.

Gaucher disease: alendronate disodium improves bone mineral density in adults receiving enzyme therapy.

Author: WenstrupRichard J, BaileyLaurie, GrabowskiGregory A, MoskovitzJay, OestreichAlan E, WuWei, SunShumei

Improved bone mineral density

Alendronate, in combination with enzyme replacement therapy (ERT), is a useful adjunctive therapy for treating osteopenia in adults with Gaucher disease (GD), but it does not improve focal bone lesions.

Clinical TrialA clinical trial is a planned study conducted on humans to evaluate the efficacy and safety of pharmaceuticals, medical devices, and treatment methods. It aims to explore the possibilities of new treatments and improve the health of patients.
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.
Research Support, U.S. Gov't, P.H.S.Research funding provided by the Public Health Service (PHS).

Language : English

2.

Hematopoietic stem cell transplantation for Gaucher disease.

Author: SomarajuUsha Rani, TadepalliKrishna

Improved Gaucher disease treatment
Gaucher disease

Gaucher disease is a common disorder affecting the body's ability to break down certain fats. Current treatments include enzyme replacement therapy, substrate reduction therapy, and stem cell transplantation. Stem cell transplantation is a risky procedure, but it may have long-term benefits in reducing bone and nerve problems in people with Gaucher disease.

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.
Systematic ReviewA review that systematically collects, evaluates, and integrates relevant research to answer a specific research question.

Language : English

3.

Hematopoietic stem cell transplantation for Gaucher disease.

Author: SomarajuUsha Rani, TadepalliKrishna

Treatment of Gaucher disease

Gaucher disease is a genetic disorder caused by a missing enzyme. Treatment options include enzyme replacement therapy, substrate reduction therapy, and stem cell transplantation. Stem cell transplantation, while risky, may offer long-term benefits in reducing bone and nervous system problems associated with Gaucher disease.

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.
ReviewAn article that critically examines existing research on a particular topic and summarizes the current state of knowledge in the field.
Systematic ReviewA review that systematically collects, evaluates, and integrates relevant research to answer a specific research question.

Language : English

4.

Gaucher disease and bone manifestations.

Author: MarcucciGemma, ZimranAri, BembiBruno, KanisJohn, ReginsterJean-Yves, RizzoliRenè, CooperCyrus, BrandiMaria Luisa

Gaucher disease treatment

Gaucher disease is a rare genetic condition that affects multiple organs, including bones. Bone problems are common and debilitating in Gaucher disease, reducing quality of life. This review examines the various aspects of Gaucher disease, including how bones are affected, symptoms, and current diagnosis and treatment approaches.

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.
ReviewAn article that critically examines existing research on a particular topic and summarizes the current state of knowledge in the field.
Systematic ReviewA review that systematically collects, evaluates, and integrates relevant research to answer a specific research question.

Language : English

5.

Enzyme replacement and substrate reduction therapy for Gaucher disease.

Author: ShemeshElad, DeromaLaura, BembiBruno, DeeganPatrick, HollakCarla, WeinrebNeal J, CoxTimothy M

Gaucher disease treatment

Gaucher disease is a rare genetic condition caused by a missing enzyme. While four treatments are currently approved for this condition, there is limited research comparing their effectiveness because of the rarity of the disease.

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

Language : English

6.

Treatment-naïve Gaucher disease patients achieve therapeutic goals and normalization with velaglucerase alfa by 4years in phase 3 trials.

Author: ZimranAri, ElsteinDeborah, GonzalezDerlis E, LukinaElena A, QinYulin, DinhQuinn, TurkiaHadhami Ben

Gaucher disease treatment

Gaucher disease is a genetic disorder affecting the body's ability to break down certain fats. Enzyme replacement therapy (ERT) with velaglucerase alfa was found to be effective in improving blood counts, spleen and liver size, and bone density in patients with Gaucher disease. After four years of treatment, almost all patients achieved their treatment goals. Furthermore, many patients saw their blood counts, organ sizes, and bone density return to levels similar to healthy individuals. This suggests that current treatment goals may be outdated, and that aiming for near-normal levels of these parameters might be a better approach.

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.
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

7.

Hematopoietic stem cell transplantation for Gaucher disease.

Author: SomarajuUsha R, TadepalliKrishna

Gaucher disease treatment

Gaucher disease is a genetic disorder affecting the body's ability to break down fats. Treatment options include enzyme replacement therapy, substrate reduction therapy, and hematopoietic stem cell transplantation (HSCT). While HSCT is a risky procedure, it may have long-term benefits for reversing bone and nerve damage in Gaucher disease. This review updates previous research on this topic.

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.
ReviewAn article that critically examines existing research on a particular topic and summarizes the current state of knowledge in the field.
Systematic ReviewA review that systematically collects, evaluates, and integrates relevant research to answer a specific research question.

Language : English

8.

Long-term adverse event profile from four completed trials of oral eliglustat in adults with Gaucher disease type 1.

Author: PeterschmittM Judith, FreisensSelena, UnderhillLisa H, FosterMeredith C, LewisGrace, GaemersSebastiaan J M

Eliglustat for Gaucher
Oral treatment
Adverse events

This abstract provides information on eliglustat, a first-line oral treatment for adults with Gaucher disease type 1. It focuses on the adverse events associated with eliglustat, highlighting their commonality, severity, frequency, and duration. This information aims to help clinicians and patients better understand the potential risks and benefits of this medication.

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.
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

9.

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

11.

Noninvasive DBS-Based Approaches to Assist Clinical Diagnosis and Treatment Monitoring of Gaucher Disease.

Author: RossiClaudia, FerranteRossella, ValentinuzziSilvia, ZucchelliMirco, BuccoliniCarlotta, Di RadoSara, TrottaDaniela, StuppiaLiborio, FedericiLuca, AricòMaurizio

GD treatment

This case report describes two preschool siblings diagnosed with Gaucher disease (GD). GD is a lysosomal storage disease caused by a glucocerebrosidase deficiency, leading to glucosylceramide accumulation in various organs. Early detection and intervention are essential for improving clinical outcomes, highlighting the importance of newborn screening for LSDs.

Case ReportsIn the medical field, a report that describes in detail a unique case, an unusual medical condition, or the effect of a treatment. Provides new insights and possibilities for treatment through individual patient cases.

Language : English

12.

Seeing beyond Gaucher disease: Early detection and treatment of ocular complications.

Author: RaniPadmaja K, PrabhaDibya, JakatiSaumya, NalawadeRohan

Gaucher disease treatment
Gaucher disease
Retinal deposits
Vitreous opacities

Gaucher disease, a rare genetic disorder, can lead to various ophthalmologic manifestations, particularly in Type 3. This case report presents a patient with Gaucher disease Type 3 with severe bilateral vitreous and extensive retinal deposits, highlighting the challenges during surgery.

Case ReportsIn the medical field, a report that describes in detail a unique case, an unusual medical condition, or the effect of a treatment. Provides new insights and possibilities for treatment through individual patient cases.
Video-Audio MediaMedia that combines video and audio. Includes movies, TV shows, and online videos.
Journal ArticleAn article published in an academic or professional journal that reports original research or scholarly analysis.

Language : English

13.

Effectiveness and Safety of Eliglustat Treatment in Gaucher Disease: Real-life Unicentric Experience.

Author: DuminucoAndrea, FazioManlio, GrassoStephanie, GulloLara, RiccobeneCarla, CalafioreValeria, MarkovicUros, Di RaimondoFrancesco, GiuffridaGaetano

Overcomes ERT limits
Substrate reduction therapy

Eliglustat is a substrate reduction therapy used to manage Gaucher disease (GD), a rare genetic disorder. This review discusses the benefits and limitations of eliglustat, highlighting the need for further research to better understand its role in the treatment of GD.

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

Language : English

14.

Insights into the Value of Lyso-Gb1 as a Predictive Biomarker in Treatment-Naïve Patients with Gaucher Disease Type 1 in the LYSO-PROOF Study.

Author: CuradoFilipa, RösnerSabine, ZielkeSusanne, WestphalGina, GrittnerUlrike, SkrahinaVolha, AlaselMohammed, MalikAhmad Mehmood, BeetzChristian, BöttcherTobias, BarelGal, SahAshish Prasad, DinurTama, AnjumNadeem, IchrafQuidad, KriouileYamna, HadipourZahra, HadipourFatemeh, Revel-VilkShoshana, CozmaClaudia, HartkampJörg, CheemaHuma, ZimranAri, BauerPeter, RolfsArndt,

GD biomarker
Personalized care

This study investigated the potential of lyso-Gb1 as a specific biomarker for Gaucher disease (GD). The findings support the utility of lyso-Gb1 as a sensitive biomarker for GD and indicate that it could help to predict the clinical course of patients with undescribed genotypes, improving personalized care.

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

Language : English

15.

Case report: Multidisciplinary collaboration in diagnosis and treatment of child gaucher disease.

Author: ZhuJianfang, SunYuxiao, ZhengWeiyan, WangChunlin

Early diagnosis
Multidisciplinary care
Bone pain
Gaucher disease
Hepatosplenomegaly

This study reports on two cases of Gaucher disease (GD) diagnosed and treated with multidisciplinary collaboration in infancy. It emphasizes the importance of early diagnosis and treatment for improving the prognosis of this inherited lysosomal storage disease.

Case ReportsIn the medical field, a report that describes in detail a unique case, an unusual medical condition, or the effect of a treatment. Provides new insights and possibilities for treatment through individual patient cases.

Language : English

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