Crossing the finish line towards a disease-modifying treatment for Angelman syndrome

Summary

This review, published in the J Neurodev Disord, looks at how close scientists are to a treatment that could change Angelman syndrome itself, not just the symptoms. It says that new gene therapies are moving forward, but the trials still face important problems, and the authors set out the main things researchers need to solve to help make a real treatment work.

The paper suggests that Angelman syndrome may help show how gene therapies could work for other single-gene brain conditions too.

Keywords: Angelman syndrome, gene therapy, neurodevelopmental disorder, disease-modifying treatment, clinical trials, single-gene disorders, brain development.

Abstract

Recent progress in the development of genetic therapies promises that impactful treatments for single-gene neurodevelopmental disorders are imminent. But can derailed neurodevelopmental processes be mended after broken genes are replaced or otherwise restored? The results of ongoing clinical trials for Angelman syndrome will soon yield answers to this pressing question, yet the trials face significant obstacles. Here we identify insights needed to aid the quest for a disease-modifying Angelman syndrome therapy, which could serve as a roadmap for the expeditious development of genetic therapies for other single-gene neurodevelopmental disorders.