Researchers study the impact of and treatment for aggrecan deficiency

On Sunday, April 28, a team of researchers received the 2019 Human Growth Award at the Pediatric Endocrine Society’s Annual Meeting for their abstract, entitled “Clinical Characterization and Trial of Growth Hormone in Patients with Aggrecan Deficiency: 6 Month Data,” and presented this at the PES Presidential Poster Session.

Eirene Alexadrou, M.D., a fellow at Cincinnati Children’s Hospital Medical Center, accepted the award and honorarium, while ongoing research is underway. This study started in 2017, with the objective of characterizing the phenotypic spectrum and response to a standardized regimen of growth hormone in a small cohort of 10 patients and their families.

In 2017, Andrew Dauber, M.D., MMSc., the division chief of endocrinology at Children’s National Health System, led an international consortium of researchers in publishing a manuscript describing the phenotypic spectrum of 103 individuals – 70 adults and 33 children, including 57 females and 46 males – from 20 families with aggrecan gene (ACAN) mutations.

Full story at news-medical.net