Home > Research

Is there a cure?

hands2

Not at the moment, but researchers are working on it. Some symptoms can be treated. The condition is permanent but is not degenerative. People with Angelman syndrome can look forward to a normal lifespan.

Research is continuing worldwide on the complex genetics of Angelman syndrome to better understand why it occurs, and the different variants that exist within the one syndrome. 

Males and females are affected equally. 

When children with Angelman syndrome are observed and studied, many educational and behavioural interventions have been shown to be effective in the areas of communication, behaviour modification, sleep disturbance, general conduct and social skilling.

Physical and occupational therapies, speech and language intervention assist people with Angelman syndrome.

Key Initiatives

behavioural research

The Global Angelman Registry is a tool to help medical professionals and researchers learn more about individuals with Angelman Syndrome (AS). The Registry will create new opportunities to gain insight and understanding about AS, providing an important tool for both facilitating research and enabling clinical trial sponsors to quickly identify suitable patients for each study.

The Registry is a global initiative that will collect data on individuals with AS through a series of online surveys in order to build the largest and most comprehensive global collection of information on Angelman syndrome to date.

This is your chance to share your experiences with Angelman syndrome and be a part of building knowledge for a brighter future for those with Angelman syndrome.

2021 is an exciting year for AS, as recent clinical trials have commenced in the United States and Europe and early reports are encouraging that the clinical trials are having a positive impact. 

To ensure that all people with AS get access to a quality and consistent standard of care, The Foundation for Angelman Syndrome Therapeutics (FAST Australia) are working with a number of dedicated healthcare and research professionals to fund a ‘coordinated care model’ for individuals with AS. This network of professionals will come together to create a clinical trial network and virtual ‘Centre of Excellence’, providing the latest knowledge and evidence-based strategies to all families, to ensure every AS individual receives consistent care across the country.

 “Covid19 has presented us with a unique opportunity to utilise telehealth in a way that is ideal for children and with complex medical conditions “, says Meagan Cross, FAST Australia Chairperson. “This type of model is translatable to other rare disease populations and would mean that people living in remote locations are not disadvantaged in their care, it also provides invaluable education to the local practitioners”.

The virtual ‘Centre of Excellence’ will also enable the development of a clinical trial network and make Australia a highly desirable location for future and expanding pharmaceutical and biogenetic trials.

The ASAA are very excited to support this FAST Australia initiative, and will be closely involved, having established the first dedicated Angelman syndrome clinic in Sydney in 1993.

Read more here

Health economics research led by the Murdoch Children’s Research Institute (MCRI) identified that the cost of raising a child with a rare genetic disorder was significant but the economic burden could be reduced by earlier diagnosis and targeted treatment, a new study has found.  

The study, published in the Journal of Autism and Developmental Disorders, involved 108 Australian families recruited from disorder-specific support groups and organisations.

Angelman syndrome incurred the highest yearly costs per person at $96,994, followed by Prader-Willi syndrome ($57,576), Chromosome 15q duplication syndrome ($52,130) and Fragile X syndrome ($33,221).

The research supports the addition of Fragile X syndrome and chromosome 15 imprinting disorders including Angelman, Prader-Willi and Chromosome 15q duplication syndromes to the newborn bloodspot screening test (heel prick test).

Read more here – Murdoch Children’s Research Institute (mcri.edu.au)

Angelman syndrome imposes a significant productivity burden on Australian parents of affected persons, with a large associated impact on the broader economy.

These findings are important for informing government planning regarding the supports that should be provided to persons with AS and their families.

They will also be important for informing the reimbursement strategy for Angelman syndrome therapies.

Read the publication here – Productivity burden borne by the parents of persons with Angelman syndrome | medRxiv

Clinical Trials

Clinical hands
Website home page

Neuren Pharmaceuticals is a Melbourne based company and is initiating Phase 2 trials of its drug candidate, NNZ-2591, for each of Phelan McDermid syndrome, Angelman syndrome and Pitt Hopkins syndrome in 2021. Neuren is also preparing for a Phase 2 trial in Prader-Willi syndrome.

Pre-clinical studies with NNZ-2591 have shown that it appears to normalize the underlying biology of the brain, and suggest that NNZ-2591 may have a favourable effect on the broad features of Angelman syndrome, rather than being restricted to treating an isolated symptom or symptoms.

For the latest information visit:

Neuren Pharmaceuticals

News & Media – Foundation For Angelman Syndrome Therapeutics (cureangelman.org.au)

Participate in the Trial:

Visit the dedicated Neuren website – Angelman Study

Watch the overview video Neuren NNZ-2591 Overview Video (Facebook)

ASAA is pleased to support our families to participate in this study and will assist Neuren Pharmaceuticals in administering funds to support eligible families to access this research project. 

This will take the form of reimbursement of reasonable travel costs upon collection of all receipts/invoices at the completion of your participation in the study. All receipts must be submitted within 45 days of completion of the study.

For further information or to discuss this reimbursement process contact us at trials@angelmansyndrome.org

September 2021 

Low carbohydrate diets such as the ketogenic (KD) and low glycemic index (LGIT) diets have been shown to be effective in treating drug resistant seizures in children with Angelman syndrome (AS). The investigators hypothesize that consuming a fat based nutritional formulation with an exogenous ketone throughout the day will produce urinary ketosis in children consuming both low and high carbohydrate diets, depending upon dietary background. The nutritional formulation will provide fuel substrates that push metabolism away from carbohydrates and towards fat utilization. This research was to assess the safety and tolerability of a nutritional formulation for use in dietary interventions in AS.

Learn more here.

The first biobank in Australia aiming to improve research and treatments into rare genetic diseases caused by changes to genes on chromosome 15, including Prader-Willi Syndrome and Angelman Syndrome, will be established at the Murdoch Children’s Research Institute (MCRI). 

To participate, please contact Emma Baker –emma.baker@mcri.edu.au

Learn more here.

Last updated September 2021

This clinical study is for children with Angelman Syndrome aged between 1 and 12 years old, and will test the safety of a new investigational therapy and study the way the body processes the study medication. The study will measure the impact of the investigational therapy using various clinical scales. 

Learn more here.

June 2020

An Open-Label Study to Evaluate the Long-Term Safety, Tolerability, and Efficacy of OV101 in Individuals With Angelman Syndrome.

In December 2020, Ovid Therapeutics Announced Phase 3 NEPTUNE Clinical Trial of OV101 for the Treatment of Angelman Syndrome did not meet primary endpoint and that it would pause the trial, pending full analysis of the trial data and discussions with the US Food and Drug Administration.

Learn more here.

December 2020

GeneTx Biotherapeutics LLC and Ultragenyx Pharmaceutical Inc. (NASDAQ: RARE), companies partnered in the development of intrathecally administered GTX-102, an investigational treatment for Angelman syndrome.

GTX-102 is an investigational antisense oligonucleotide designed to target and inhibit expression of UBE3A-AS. Nonclinical studies show that GTX-102 reduces the levels of UBE3A-AS and reactivates expression of the paternal UBE3A allele in neurons of the CNS. 

Additional safety and efficacy data from the study are expected in 2021.

Learn more here

October 2020