RESEARCH
NEWS & UPDATES
The general research focus areas for Angelman syndrome, include:
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Understanding the Genetic Basis: Identifying the specific genetic mutations and mechanisms that cause AS.
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Neurological Mechanisms: Investigating how the loss of UBE3A function affects brain development and function.
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Developing Treatments: Exploring potential therapies, including gene therapy, to address symptoms and improve the lives of people with AS.
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Clinical Research: Improving the management of epilepsy, behavioral concerns, and other challenges associated with AS.
Genetic Health Service NZ provides genetic diagnostic and genetic counselling services, operating fourteen clinics throughout the country. They also provide assistance in managing genetic conditions, expert advice on genetic diseases and education on genetics.
Report on Mortalities in Angelman Syndrome
March 25, 2025, Community Update:
New Insights into Health and Prevention in Angelman Syndrome
We want to acknowledge a recently published study that explores mortality risks in individuals with Angelman syndrome (AS) - Report on Mortalities in Angelman Syndrome.
While this is a sensitive topic, it is an important step toward ensuring that individuals with AS receive the best possible care and preventive support. Until 2018, the lack of a unique diagnosis code for AS (ICD-10: Q93.51) made it difficult to track comprehensive data on the health and life expectancy of individuals with AS. This study, which gathered data from community sources, registries, and natural history studies, highlights key areas where increased awareness and intervention can make a meaningful difference.
One of the most notable findings is the potential link between pneumonia and silent aspiration in individuals with AS, reinforcing the importance of monitoring swallowing difficulties and choking risks. With greater awareness, caregivers and clinicians can implement early interventions that may reduce health risks and improve quality of life. See Preventive Resources & Support below.
While discussions about health risks can feel overwhelming, our goal as a community is to empower families with knowledge and support so that every individual with AS can thrive. With continued research, advocacy, and improved medical awareness, we can work toward better care, increased longevity, and a brighter future for all. Read the Abstract here.
Preventive Resources & Support
For an overview of the Report on Mortalities in Angelman Syndrome study and its key findings, please refer to the family-friendly report. To help families and caregivers stay informed and proactive, here are some key resources available:
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Standards of Care for Angelman Syndrome – The AS Standards of Care provide expert-driven guidelines on best practices for medical care, therapy, and long-term management. These recommendations help families and healthcare providers make informed decisions to support the well-being of individuals with AS.
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Seizure Management – Since epilepsy is common in AS, ensuring proper treatment and monitoring can help reduce seizure-related risks. The ASF Seizure Toolkit provides guidance on managing epilepsy in AS.
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Family Resources & Clinical Support – There are clinics around the world that provide expert care tailored to individuals with AS, offering guidance on health monitoring and preventive care strategies. There are currently no AS clinics in Aotearoa NZ. The nearest clinics are held in Australia - in Sydney, Brisbane and Melbourne.
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See Clinical Support NZ
2019 - 2025 Updates
CURRENT PHASE 3 TRIALS
Ionis Pharmaceuticals - UPDATE on ION582
November 6, 2024: Ionis Announces Pivotal Phase 3 Trial Design for ION582 in Angelman Syndrome
June 13, 2022 - Press release: Ionis treatment for Angelman syndrome receives orphan drug and rare pediatric disease designations from U.S. FDA
Ultragenyx - UPDATE on GTX-102
December 19, 2024: Ultragenyx Announces First Patient Dosed in Pivotal Phase 3 Aspire Study Evaluating GTX-102 in Angelman Syndrome
November 9, 2024: Utragenyx Presents Positive Update on GTX-102 Angelman Syndrome Program at FAST’s 17th Annual Global Science Summit
July 18, 2022 - Ultragenyx and GeneTx Provide Program Update on GTX-102 for Angelman Syndrome Including Promising Interim Data from Phase 1/2 Study
Neuren Pharmaceuticals - UPDATE on NNZ-2591
9 August 2024: Phase 2 trial shows significant improvements in Angelman syndrome
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.
CURRENT PHASE 2 TRIALS
Roche: A Study to Investigate the Pharmacokinetics (PK) 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.
UNSUCCESSFUL TRIALS THAT ENDED
Roche Pharmaceuticals/Genentech - UPDATE on Rugonersen
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."
Ovid Therapeutics - UPDATE on OV101
August 23, 2023 - Trial data support Ovid’s decision to stop its OV101 program in 2021. 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.
ANIMAL STUDIES
Researchers from UC Davis (funded by FAST) - Animal studies followed NIH guidelines.
March 13, 2023 - "Transcriptional reprogramming restores UBE3A brain-wide and rescues behavioral phenotypes in an Angelman syndrome mouse mode"
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.
RECENTLY COMPLETED STUDIES
2020: Nutritional Formulation for Angelman Syndrome (FANS) - an evaluation of the safety and tolerability of a Nutritional Formulation (containing exogenous ketones), in Angelman Syndrome.
2021 - Nutritional Formulation for Patients with Angelman Syndrome: A Randomized, Double-Blind, Placebo-Controlled Study of Exogenous Ketones
2021 - Dystonia in Angelman syndrome: a common, unrecognized clinical finding
AS Clinical Research Websites
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For the latest global updates: Angelman Clinical Trials
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Angelman Syndrome Information Page - What research is being done?
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Clinical Studies for: Angelman Syndrome
With so many clinical trials underway, it is important that as many families as possible are signed up on the Global Angelman Registry!
Research Studies - NZ and Australia
Rare Disorders Research Network
The initiative and establishment of New Zealand's only Rare Disorders Research Network is the result of a joint collaboration between Rare Disorders NZ and Dr Tara Officer, Senior Lecturer in Applied Health Science, School of Nursing, Midwifery and Health Practice, and Adjunct Professor Karen McBride-Henry (both Victoria University of Wellington). The network was established in late 2024 and now has over 30 members. If you are a researcher with an interest in rare disorders in New Zealand and would like to know more or join the Network, please email enquiries@raredisorders.org.nz.
RESEARCH 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.
How do clinical trials work in New Zealand?
For Information on ethics process, principles of research conduct, regulatory considerations, and research governance, see: Clinical Trials in NZ