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Hematopoietic stem cell transplantation for Gaucher disease
Usha R Somaraju1, Krishna Tadepalli
1Star Hospitals, Banjara Hills, Hyderabad, India, 500034.
Insights
Hematopoietic stem cell transplantation (HSCT) may offer a cure for Gaucher disease, but no clinical trials currently exist to assess its safety and efficacy compared to other treatments.
Area of Science:
- Biochemistry
- Genetics
- Medical Research
Background:
- Gaucher disease is a common lysosomal storage disorder due to glucocerebrosidase deficiency.
- Current treatments include enzyme replacement therapy, substrate reduction therapy, and hematopoietic stem cell transplantation (HSCT).
- HSCT is a high-risk procedure with potential long-term benefits for skeletal and neurological symptoms.
Purpose of the Study:
- To evaluate the role of HSCT in Gaucher disease.
- Assess mortality risk, disease modification efficacy, and neurological regression from HSCT.
- Compare HSCT to enzyme replacement therapy, substrate reduction therapy, and symptomatic treatment.
Main Methods:
- Searched Cochrane Cystic Fibrosis and Genetic Disorders Group Inborn Errors of Metabolism Trials Register.
- Included randomized, quasi-randomized, and controlled clinical trials.
- Searched clinical trial registries and company websites up to March 2017.
Main Results:
- Thirty-two trials were identified through searches.
- No trials met the inclusion criteria for the review.
- No relevant trials comparing HSCT to other treatments were found.
Conclusions:
- HSCT has the potential for a permanent cure in Gaucher disease.
- There is a lack of clinical trials evaluating HSCT's safety and efficacy against current therapies.
- The review will not be updated until new trials become available.
Background:
Gaucher disease is the most common lysosomal storage disorder caused by a deficiency of the enzyme glucocerebrosidase. Current treatment of the disease involves a choice from enzyme replacement therapy, substrate reduction therapy and hemotopoietic stem cell transplantation (HSCT). HSCT is a high risk procedure with possible long-term benefits in the regression of skeletal and neurological changes in people with Gaucher disease. This is an update of a previously published Cochrane Review.
Objectives:
To determine the role of HSCT in people with Gaucher disease in relation to: mortality risk associated with the procedure; efficacy in modifying the course of the disease; and arrest or regression of neurological manifestations in neuronopathic forms (types 2 and 3).
Search Methods:
We searched the Cochrane Cystic Fibrosis and Genetic Disorders Group Inborn Errors of Metabolism Trials Register which comprises of references identified from comprehensive electronic database searches and handsearches of relevant journals and abstract books of conference proceedings.Date of the most recent search of the Group's Haemoglobinopathies Trials Register: 19 January 2017.We also searched the websites: www.clinicaltrials.gov; WHO International Clinical Trials Registry Platform portal and www.genzymeclinicalresearch.com. Date of most recent search of these sites: 02 March 2017.
Selection Criteria:
All randomised, quasi-randomised and controlled clinical trials comparing stem cell transplantation with enzyme replacement therapy, substrate reduction therapy, symptomatic treatment or no treatment in people with Gaucher disease of all ages.
Data Collection And Analysis:
We independently assessed trials for inclusion, however, no relevant trials were identified.
Main Results:
Thirty two trials were identified by the searches; however, these were not suitable for inclusion in the review.
Authors' Conclusions:
HSCT is a form of treatment that offers the potential of permanent cure. However, there are no clinical trials that have assessed the safety and efficacy of this treatment in comparison to other conservative measures (enzyme replacement therapy, substrate reduction therapy) now in use.There are no trials included in the review and we have not identified any relevant trials up to March 2017. We therefore do not plan to update this review until new trials are published.
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