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Review
. 2025 Apr;56(2):69-82.
doi: 10.1055/a-2399-0191. Epub 2024 Aug 21.

Precision Medicine in Angelman Syndrome

Lena Manssen  1 , Ilona Krey  2 , Janina Gburek-Augustat  3 , Cornelia von Hagen  1   4 , Johannes R Lemke  2   5 , Andreas Merkenschlager  3 , Heike Weigand  1 , Christine Makowski  1
Affiliations
Free article
Review

Precision Medicine in Angelman Syndrome

Lena Manssen et al. Neuropediatrics. 2025 Apr.
Free article

Abstract

Angelman syndrome (AS) is a rare neurogenetic disorder caused by a loss of function of UBE3A on the maternal allele. Clinical features include severe neurodevelopmental delay, epilepsy, sleep disturbances, and behavioral disorders. Therapy currently evolves from conventional symptomatic, supportive, and antiseizure treatments toward alteration of mRNA expression, which is subject of several ongoing clinical trials.This article will provide an overview of clinical research and therapeutic approaches on AS.

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Conflict of interest statement

The Angelman Center Munich and the Angelman Clinic Leipzig are funded by the German parents' association Angelman e.V. The Angelman Center Munich is participating in the clinical trial “Study to investigate the pharmacokinetics and safety and to provide proof of mechanism of Alogabat in children and adolescents aged 5–17 years with Angelman Syndrome (AS) with deletion genotype”; the Angelman Clinic Leipzig is participating in “A phase 1/2 open-label, multiple-dose, dose-escalating clinical trial of the safety and tolerability of GTX-102 in pediatric patients with Angelman Syndrome (AS).” The Angelman Center Munich and the Angelman Clinic Leipzig receive fundings by the sponsors of these clinical trials.Christine Makowski declares following conflicts of interest; participating in the clinical trial “A phase 2 adult and adolescent Angelman Syndrome clinical trial: A randomized, double-blind, safety and efficacy study of gaboxadol” (finished) and fundings by Roche, Desitin, Jazz, and Nutricia.Lena Manssen, Ilona Krey, Janina Gburek-Augustat, Cornelia von Hagen, Johannes R. Lemke, Andreas Merkenschlager, and Heike Weigand declare to have no conflicts of interest.

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