Gaucher Patients Have Mixed Views About Substrate Reduction Therapies, Study Finds

Gaucher Patients Have Mixed Views About Substrate Reduction Therapies, Study Finds

People with Gaucher’s disease have mixed views about using oral substrate reduction therapies as an alternative to enzyme replacement therapies, a study reports.

Some favor substrate reduction therapies, or SRTs, and some enzyme replacement therapies, or ERTs.

The main concern that patients expressed about SRTs in an online survey was their side effects, which can be harsher than those of ERTs. The main advantage that patients ascribed to SRTs is that they can be taken orally, making them more convenient and less invasive that ERTs, which are injected.

The study, “Attitudes of Individuals with Gaucher Disease toward Substrate Reduction Therapies,” was published online in the Journal of Genetic Counseling.

Gaucher, or GD, is an inherited disease caused by genetic defects that interfere with an enzyme called glucocerebrosidase. It leads to an enlarged liver and spleen, anemia, and problems with bones and joints.

SRTs reduce the amount of fatty substances, or glucocerebrosides, that accumulate in the body. In contrast, ERTs replace the missing enzyme that clears the body of glucocerebrosides.

Many patients have to obtain ERT injections at special facilities, making the treatment inconvenient. Injections are also invasive, while oral SRTs are not.

ERTs are physicians’ first choice for treating Gaucher. Europeans often prescribe SRTs, however. One reason is that ERTs must be injected frequently, making them inconvenient. In addition, some patients cannot tolerate them, and some have adverse reactions to them.

“Understanding potential differences in perceived patient quality of life, as well as the various reasons individuals may prefer or refuse use of SRTs for GD, is important for healthcare providers so they can appropriately care for and counsel patients with GD about the benefits and limitations associated with various treatment options,” the researchers wrote.

In the online survey, patients who favored SRTs over ERTs said SRTs were more convenient and less invasive because they can be taken orally.

Those favoring ERTs said that they are an effective therapy and that SRTs can cause side effects. They also said that more research needs to be done on SRTs.

Most of the survey respondents who had taken SRTs and ERTs at different times reported that the quality of their health was the same while taking either one.

“Participant responses illustrate that attitudes toward SRTs can be variable, and that one particular treatment may not be ideal for all patients with GD, depending on individual perceptions of factors such as convenience, invasiveness, or side effects,” the authors reported.

“Specifically, genetic counselors and other providers should consider having open discussions with their patients about their prior knowledge of treatment for GD and their perceptions of different therapy options at the beginning of treatment and as other approved treatment options become available,” they concluded.

The study was funded by Sanofi Genzyme.