GD Patients Reach Expected Height Regardless of Enzyme Replacement Therapy, Study Shows

GD Patients Reach Expected Height Regardless of Enzyme Replacement Therapy, Study Shows

Enzyme replacement therapy (ERT) in Gaucher disease patients has no significant impact on patients’ final height, suggests a small group retrospective study.

The study, “Growth and final height of children with Gaucher disease: A 15-yeafollow-up at an Israeli Gaucher center,” was published in the journal Blood Cells, Molecules & Diseases.

Enzyme replacement therapy (ERT) is linked to significant improvements in Gaucher disease symptoms and patients’ quality of life. With patients being affected by low glucocerebrosidase (GCase) enzyme activity, the goal of ERT is to balance these low levels by administering patients a modified version of this enzyme.

While it is generally accepted that ERT accelerates the growth rate in children with Gaucher disease, the few studies addressing this issue were found inconclusive. In fact, how the final height of these children is affected was still unknown.

In this retrospective study, authors analyzed a group of patients with Gaucher disease followed for 15 years. They compared the final height of patients in two different groups: those who were treated with ERT vs. those who weren’t treated.

The study was conducted at the Gaucher Clinic at Shaare Zedek Medical Center in Jerusalem, Israel and included 41 patients with type 1 Gaucher disease (they were at least 21 years old at the time of the study). Authors took into account updated growth parameters along with demographic and other disease-specific data.

Patients also answered a questionnaire regarding their age at first menstruation in girls, or in boys, the age they first began shaving facial hair, as well their siblings’ and parents’ ages. Parental height, familial target height, and sibling height (all obtained from the questionnaire) served as parameters for comparing patients’ height; the same analysis was performed for age at puberty.

The retrospective analysis showed that, as demonstrated in previous studies, Gaucher disease has a negative effect on growth during childhood. Researchers also found that not only height but children’s weight is also affected, although to a lesser degree. This is likely a result of the abnormal enlargement of the spleen and liver and/or from a reduced basal metabolic rate. Specifically, the onset of puberty was delayed in girls.

Concerning ERT, the study results suggest a tendency for this type of therapy to have a positive effect on height, but no statistical significance was found between ERT-treated and non-treated patients.

“Our data highlight the effect of delayed puberty on stature: The short stature during childhood is compensated by a longer time of linear growth, thereby enabling the patients to reach normal height in adulthood,” researchers wrote.

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Patricia holds her Ph.D. in Cell Biology from University Nova de Lisboa, and has served as an author on several research projects and fellowships, as well as major grant applications for European Agencies. She also served as a PhD student research assistant in the Laboratory of Doctor David A. Fidock, Department of Microbiology & Immunology, Columbia University, New York.

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