Treatments and drugs for Gaucher disease type 1, the most common form of the disease, may vary depending on the severity of each patient's disease and the course of treatment your physician determines. Enzyme replacement therapy (ERT) is administered intravenously for the non-neurological manifestations of types 1 and 3. There are no treatments available for type 2, the most fatal form of the disease, which presents in infancy and causes demise within the first two to three years.
There are three enzyme replacement therapies (ERT) available for treatment of Gaucher and one oral medication which may be taken by those over 18-years-old and/or have a mild case of Gaucher. The course of treatment is a decision that you and your doctor must decide based on prognosis and other extenuating factors. Research and clinical trials are ongoing for additional treatments and/or a cure for Gaucher disease, including cell and gene therapy.
2014 Position Statement from the NGF's Medical Board
Patients and physicians have contacted the National Gaucher Foundation regarding recent discussions and decisions by US insurance carriers and specifically United Health Care to establish a preferred status category for one of three enzyme replacement therapies currently approved by FDA for treatment of patients with Gaucher disease. The position of the National Gaucher Foundation and its Medical Advisory Board can be viewed here.
In 1991, Gaucher disease management shifted with the advent of targeted enzyme replacement therapy (ERT), developed by Genzyme Corporation in cooperation with the NIH. With the introduction of Cerezyme® (imiglucerase for injection) in 1994 and with its predecessor, clinicians have been able to address the disease process itself, and therefore alleviate and even reverse many effects of Type 1 Gaucher disease.
Cerezyme® therapy is not a cure for Gaucher disease; that is, it does not correct the underlying genetic defect. In order to continue to benefit from the treatment, symptomatic patients must receive intravenous infusions for the rest of their lives, even though they may feel better.
ELELYSO™ (taliglucerase alfa) for injection is a hydrolytic lysosomal glucocerebroside-specific enzyme indicated for long-term enzyme replacement therapy (ERT) for adults with a confirmed diagnosis of Type 1 Gaucher disease and was approved by the United States (U.S.) Food and Drug Administration (FDA) on May 1, 2012.
ELELYSO is the first FDA-approved, plant cell-based ERT indicated for the treatment of Type 1 Gaucher disease. ELELYSO is available by prescription only.
VPRIV is a hydrolytic lysosomal glucocerebroside-specific enzyme indicated for long-term enzyme replacement therapy (ERT) for pediatric and adult patients with type 1 Gaucher disease.
CERDELGA™ is the only first-line oral therapy for certain adult Gaucher disease type 1 patients. A small number of adult patients who metabolize Cerdelga more quickly or at an undetermined rate, as detected by an established genetic laboratory test, will not be eligible for Cerdelga treatment.
Genzyme has been researching an oral therapy for Gaucher disease for fifteen years, from early chemistry and preclinical research through clinical development. The Cerdelga clinical development program is the largest ever conducted in Gaucher disease, with approximately 400 patients treated in 29 countries.
CERDELGA™ (eliglustat) capsules are indicated for the long-term treatment of adults with Gaucher disease type 1 (GD1) who are CYP2D6 extensive metabolizers (EMs), intermediate metabolizers (IMs), or poor metabolizers (PMs) as detected by an FDA-cleared test. Patients who are CYP2D6 ultra-rapid metabolizers (URMs) may not achieve adequate concentrations of CERDELGA to achieve a therapeutic effect. A specific dose cannot be recommended for those patients whose CYP2D6 genotype cannot be determined (indeterminate metabolizers).
Zavesca is a prescription medicine taken by mouth for adults with mild to moderate type 1 Gaucher disease. Zavesca is used only in patients who cannot be treated with enzyme replacement therapy.
In people with type 1 Gaucher disease, the body has an excess of certain types of fatty substances called glycosphingolipids (gli-coh-sfing-goh-lip-ids) or GSL. Normally, the body produces GSL and a certain enzyme breaks it down. In people with type 1 Gaucher disease there's either not enough of the enzyme or it doesn't work properly, so the fatty substances build up over time, causing serious problems in parts of the body like the liver, spleen, lungs, and bones. Zavesca® reduces the harmful buildup of fatty substances throughout the body by reducing the amount of GSL the body produces.