Emerging Therapies and challenges for individuals with Angelman syndrome

Helen S Heussler

doi:10.1097/YCO.0000000000000674

Emerging Therapies and challenges for individuals with Angelman syndrome

Curr Opin Psychiatry. 2021 Mar 1;34(2):123-128. doi: 10.1097/YCO.0000000000000674.

Author

Helen S Heussler^{1

2

3}

Affiliations

¹ Child Development Program, Children's Health Queensland.
² Centre for Clinical Trials in Rare Neurodevelopmental Disorders, Children's Health Queensland.
³ Centre for Children's Health Research, University of Queensland, Queensland, Australia.

PMID: 33395098
DOI: 10.1097/YCO.0000000000000674

Abstract

Purpose of review: This review describes current understandings in the search for therapies to support children with Angelman syndrome. There is a rapid progression in particular in genetic therapies in this disorder supported by the Angelman community.

Recent findings: Recent papers shed light on the timing of therapies and novel genetic therapies coming to trial as well as potential therapies still in preclinical phases. Further understanding of UBE3A and its role in neuronal development and plasticity as well as other mechanisms contributing to the Angelman phenotype is offering an opportunity for novel therapeutics.

Summary: Greater understanding of the pathophysiology of the different phenotypes will offer an opportunity for novel therapeutics and may well change the course of this disorder over time where previously there has been minimal ability to intervene.

Trial registration: ClinicalTrials.gov NCT03802799 NCT03614663 NCT04304482 NCT03882918.

Publication types

Research Support, Non-U.S. Gov't
Review

MeSH terms

Angelman Syndrome / genetics*
Angelman Syndrome / therapy*
Genetic Therapy
Humans
Phenotype
Ubiquitin-Protein Ligases / genetics

Substances

UBE3A protein, human
Ubiquitin-Protein Ligases

Associated data

ClinicalTrials.gov/NCT03802799
ClinicalTrials.gov/NCT03614663
ClinicalTrials.gov/NCT04304482
ClinicalTrials.gov/NCT03882918