A proof-of-concept study of growth hormone in children with Phelan-McDermid syndrome.

ABSTRACT:

Background

Phelan-McDermid syndrome (PMS) is caused by 22q13 deletions including SHANK3 or pathogenic sequence variants in SHANK3 and is among the more common rare genetic findings in autism spectrum disorder (ASD). SHANK3 is critical for synaptic function, and preclinical and clinical studies suggest that insulin-like growth factor-1 (IGF-1) can reverse a range of deficits in PMS. IGF-1 release is stimulated by growth hormone secretion from the anterior pituitary gland, and this study sought to assess the feasibility of increasing IGF-1 levels through recombinant human growth hormone (rhGH) treatment, in addition to establishing safety and exploring efficacy of rhGH in children with PMS.

Methods

rhGH was administered once daily for 12 weeks to six children with PMS using an

SUBMITTER: Sethuram S 

PROVIDER: S-EPMC8800321 | biostudies-literature | 2022 Jan

REPOSITORIES: biostudies-literature