top of page
Balanced Objects

Research News & Updates

2019 - 2023 Updates

Summary of Global Research


UPDATE:  June 13, 2022 - Press release: Ionis treatment for Angelman syndrome receives orphan drug and rare pediatric disease designations from U.S. FDA

UPDATE: JUNE 21, 2023 - Roche Clinical Trial of Rugonersen in Angelman Syndrome

"Roche has made the difficult decision not to move forward with a new clinical trial for rugonersen and has initiated the search for an external partner to take over the development of rugonersen."

  • Researchers from UC Davis (funded by FAST) - there was full behavioral rescue in both newborn and adult mice with Angelman syndrome. This was using a human gene therapy candidate that should be ready for clinical trials in the next 12 months.⁠ 

UPDATE: March 13, 2023 - "Transcriptional reprogramming restores UBE3A brain-wide and rescues behavioral phenotypes in an Angelman syndrome mouse mode"

  • Neuren Pharmaceuticals - their drug NNZ-2591 began phase 1 trials in Australia with Phase 2 trials in the US in the second half of 2020.  The purpose of the study is to look at the safety, tolerability, and efficacy of an oral medication NNZ-2591 in the treatment of children with Angelman syndrome, which aims to improve the impaired connections and signalling between brain cells that are involved in Angelman syndrome.

An Open-Label Study of the Safety, Tolerability, and Pharmacokinetics of Oral NNZ-2591 in Angelman Syndrome (AS-001)

Clinical trials in progress

  • GeneTx in partnership with Ultragenyx Inc. - their gene altering ASO therapy will be headed to clinical trial in the first half of 2020.

UPDATE: July 18, 2022 - Ultragenyx and GeneTx Provide Program Update on GTX-102 for Angelman Syndrome Including Promising Interim Data from Phase 1/2 Study

  • Ovid Therapeutics - clinical trials to evaluate the pharmacokinetics (PK), safety and tolerability of OV101 in adolescents diagnosed with Angelman syndrome or Fragile X syndrome. OV101 (gaboxadol) is a delta (d)-selective GABAA receptor agonist. The phase 3 Neptune trial was unsuccessful.

December 02, 2020 Update here.

Apr 19, 2021 - Ovid dumps lead program after lackluster showing in Angelman syndrome

UPDATE: August 23, 2023 - Trial data support Ovid’s decision to stop its OV101 program in 2021

  • University of Colorado, Denver - an evaluation of the safety and tolerability of a Nutritional Formulation (containing exogenous ketones), in Angelman Syndrome. 

Nutritional Formulation for Angelman Syndrome (FANS)

UPDATE: Dec2021 - Nutritional Formulation for Patients with Angelman Syndrome: A Randomized, Double-Blind, Placebo-Controlled Study of Exogenous Ketones

With so many potential clinical trials on the go, make sure you

have signed up on the Global Angelman Registry!



AS Clinical Research-focused Websites


Related News Articles


Research Studies - NZ and Australia


Info on Clinical Trials in NZ

2023, 11 Mar - ‘Shaking with excitement’: FDA approves NZ-discovered drug for Rett Syndrome

"...Trofinetide - a product of University of Auckland spin-out company Neuren Pharmaceuticals and US company Acadia Pharmaceuticals - has shown exciting promise at treating Rett symptoms..."

"... Nueren continued to develop a second related compound NZ2591 - also discovered by Guan and Gluckman – with potential use for other serious neurological conditions that emerge in early childhood. It has already gained FDA approval to enter phase 2 clinical trials for the treatment of PhelanMcDermid syndrome, Angelman syndrome, Pitt-Hopkins syndrome and Prader-Willi syndrome. While working as an academic at Liggins, Guan – now based in the private sector - has since been able to reveal much about the mode of action of this family of peptides."


2019 -

Neuren Pharmaceuticals is based in Melbourne, Australia. [Neuren Pharmaceuticals Limited Australian Business Number (ABN) 72 111 496 130. New Zealand registered company number 1181152]

Lead researcher and associate professor at University of Auckland Centre for Brain Research, Dr. Jian Guan, has been involved with this research. The U.S. Food and Drug Administration (FDA) granted orphan drug status to candidate therapy NNZ-2591 to treat Angelman syndrome and two other childhood neurodevelopmental disorders for which there are no currently approved medications. NNZ-2591 went into clinical trials in 2020. See press release.

2018 - 23

Laurie McLay, Senior Lecturer at the University of Canterbury and Associate Professor Karyn France are carrying out a research project that investigates the effectiveness of treatments for sleep disturbance in children with Rare Genetic Neurodevelopmental Disorders (RGND).

The Angelman Network supported this study with a grant and helped source families to participate in the study. See link to Sleep study.


2017 - 18

Hemant Thakker completed his Doctoral Research on ‘When I am no longer alive – understanding the wishes, worries and support needs of parents of severely disabled adults.’ The findings of this study will assist in making useful recommendations to policy makers in NZ on designing service models that are both efficient (in terms of cost) and effective in terms of their usefulness to meet the needs of severely disabled adults and their families.

The Angelman Network supported this study with a grant and helped source families to participate. See final paper on Succession Planning.

2015 - The Angelman Network was a sponsor for the Angelman Literacy Project’s summer road trip – a series of workshops run by Erin Sheldon and held across the USA.  The aim was to provide important source material and research data on Angelman syndrome and Communication.

The Angelman Network supported this study with a grant and assisted with the design and publication of Angelman Syndrome For Educators, by Erin Sheldon.​​

bottom of page