Effectiveness of Recombinant Human Growth Hormone Therapy for Children With Phelan-McDermid Syndrome: An Open-Label, Cross-Over, Preliminary Study.

ABSTRACT:

Background

Phelan-McDermid syndrome (PMS), also known as the 22q13. 3 deletion syndrome, is a rare neurodevelopmental syndrome with approximately 2,800 patients reported worldwide. Previous pilot study demonstrated that IGF-1 could significantly improve in both social impairment and restrictive behaviors of the patients. However, most of the patients in the developing countries like China cannot afford the high cost of using IGF-1. Our research team speculated that rhGH might serve as a low-cost and more accessible treatment for PMS. Therefore, the purpose of this open-label, cross-over, pilot study was to further investigate the safety and efficiency of rhGH in patients with PMS.

Methods

A total of six children with PMS were enrolled in in this open-label, cross-over, pilot

SUBMITTER: Li T 

PROVIDER: S-EPMC8888442 | biostudies-literature | 2022

REPOSITORIES: biostudies-literature