From the Guidelines
Gaucher disease treatment should prioritize enzyme replacement therapy (ERT) with medications like imiglucerase, velaglucerase alfa, or taliglucerase alfa, as they have been shown to be effective in managing the disease, particularly in reducing major peripheral symptoms and improving quality of life 1.
Treatment Options
The primary treatment options for Gaucher disease include:
- Enzyme replacement therapy (ERT) with imiglucerase, velaglucerase alfa, or taliglucerase alfa, which are administered intravenously every two weeks at doses ranging from 30-60 units/kg, depending on disease severity 1.
- Substrate reduction therapy (SRT) with oral medications like miglustat or eliglustat, which reduce the production of glucocerebroside, although SRT is currently only recommended as second-line therapy for adult patients with mild to moderate disease 1.
Disease Management
Treatment should be individualized based on disease type, severity, and specific symptoms. Bone pain can be managed with analgesics, and severe bone complications might need orthopedic interventions. Splenectomy is now rarely performed due to effective medication options.
Monitoring and Biomarkers
Biomarker testing, including lyso-Gb1 levels, can be useful in evaluating therapeutic response and treatment compliance 1. Monitoring patients with Gaucher disease may also include tartrate-resistant acid phosphatase, chitotriosidase activity, angiotensin-converting enzyme, and/or C-C motif ligand 18/pulmonary-activated-related chemokine, although these markers are not specific to Gaucher disease 1.
From the FDA Drug Label
ELELYSO is indicated for the treatment of patients 4 years of age and older with a confirmed diagnosis of Type 1 Gaucher disease. The treatment for Gaucher disease is taliglucerase (IV), also known as ELELYSO, which is indicated for patients 4 years of age and older with a confirmed diagnosis of Type 1 Gaucher disease 2.
- The recommended dosage is 60 units/kg administered every other week as a 60- to 120-minute intravenous infusion.
- Another option is velaglucerase alfa (IV), which can be used at a starting dose of 60 Units/kg for patients naïve to enzyme replacement therapy 3.
From the Research
Gaucher Disease Treatment Options
- Enzyme replacement therapy (ERT) is the standard treatment for Gaucher disease, which involves lifelong intravenous administration of a recombinant analogue of human glucocerebrosidase 4
- ERT has changed the clinical phenotype of Gaucher disease, turning a severe progressive disease into an asymptomatic metabolic defect 4
- Velaglucerase alfa and taliglucerase alfa are theoretically considered to have a lower risk of immunogenicity reactions compared to imiglucerase 5
- Substrate reduction therapy may be considered in patients who do not tolerate or cannot receive ERT, and requires evaluation of patient-specific variables such as genotype evaluation and renal function 5
Efficacy and Safety of Enzyme Replacement Therapies
- Different recombinant glucocerebrosidases are bio-similar and non-inferior in safety and efficacy for surrogate biological response parameters 6
- ERT given at 30 to 45 units/kg body weight every two to four weeks was generally as effective as the 60 unit/kg dose for assessed clinical outcomes 6
- Velaglucerase alfa was found to be non-inferior to imiglucerase in a 9-month, global, randomized, double-blind, non-inferiority study 7
- No statistically significant differences were found in secondary endpoints, and most adverse events were mild to moderate 7
Comparison of Enzyme Replacement Therapies
- A study comparing velaglucerase alfa with imiglucerase found no statistically significant differences in hemoglobin concentration, platelet count, and organ volumes 7
- Another study found that miglustat monotherapy appeared as effective as continued ERT for maintenance of hematological, organ, and biomarker responses in people with type 1 Gaucher disease previously treated with imiglucerase for at least two years 6
- The analysis emphasizes the need to determine whether it is realistic to carry out multi-decade prospective clinical trials for rare diseases such as type 1 Gaucher disease 6