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Research News

A summary of the main, ongoing areas of research into treatments for PWS can be found on our Potential Future Treatments page.


GABA – a new potential therapeutic target for challenging behaviour

AUG 2019 - Can a GABA-modulating drug normalise the balance of neurotransmitters in the brain and improve behaviour in PWS? GABA (gamma aminobutyric acid) is an amino acid acting as a brain neurotransmitter (chemical messenger.) GABA inhibits certain brain signals and decreases activity in the nervous system which results in a calming effect. When GABA attaches to a brain protein known as a GABA receptor, feelings of anxiety, stress…

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Pitolisant data published and film of patient experiences launched

MAY 2019 - The case series data from 3 children trialling pitolisant has been published. It was noted that the treatment was well tolerated and in addition to the previously reported positive effects on cognition (mental clarity and processing speed), pitolisant had the additional benefit of normalising the children’s relationship to food. You can read more details about the dosing and any side effects in The Chion Foundation’s April press release.…

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The characteristics of temper outbursts in Prader-Willi syndrome

NOV 2018 - In this study, Drs. Rice, Einfeld and Woodcock aimed to develop a comprehensive understanding of temper outbursts in PWS. A survey was developed from interviews conducted with individuals with PWS and their caregivers. The survey was completed by 101 primary caregivers. The findings suggest that outburst frequency decreases with age while duration increases. Adolescents exhibited more severe behaviours than children or adults. No differences were found across…

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Rapid increase in visceral fat (deep abdominal fat located around internal organs) and LDL cholesterol after the cessation of GH therapy

SEPT 2018 - A Japanese research team, Koizumi et al, used dual-energy X-ray absorptiometry (DEXA scans) and abdominal computed tomography (CT scans) to compare the fat distribution between before ceasing GH treatment and 6 months and 12 months after the cessation of GH therapy in 7 adult PWS patients. All patients had been treated with GH for an average of 14.7 years and discontinued treatment at a mean age…

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Phase 2 Carbetocin Results Are Published, Confirming Positive Results For Hyperphagia And Behaviour

Phase 2 carbetocin results are published, confirming positive results for hyperphagia and behaviour

JUNE 2018 - Results of the phase 2 carbetocin trial (oxytocin-like nasal spray) have been published and phase 3 is expected to begin later this year. Carbetocin is similar to oxytocin, but specifically targets only the oxytocin receptor which may reduce impact on other systems, i.e. vasopressin signalling, and is therefore thought to limit any potential unwanted side effects. (Activation of vasopressin receptors could generate aggression.) As expected with…

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Rhythm Pharmaceuticals announces acquisition of new preclinical treatment for PWS from Takeda: T-3525770 (now RM-853)

APRIL 2018 - Rhythm is a biopharmaceutical company focused on developing therapies for rare genetic disorders of obesity. Their lead product, setmelanotide (RM-493), is now in phase 3 trial for other obesity disorders whilst a phase 2 trial in PWS achieved only modest success in reducing hyperhphagia. However, Rhythm are assessing opportunities to further evaluate it in PWS, which may be in parallel or in conjunction with their new acquisition…

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Hypothalamus analysis characterized by neuronal loss, altered neuro-plasticity and neuroinflammation, with a potential role for BDNF identified

MARCH 2018 - For cell building and maintenance, DNA ‘instructions’ are ‘read’ and transcribed into RNA and these ‘read-outs’ are called transcripts. A transcriptome is the complete set of RNA transcripts that are produced by the genome (all the genetic material in a cell). In this study, transcriptomic analysis of hypothalamic PWS brain tissue by RNA sequencing was performed. Altogether, 3676 differently expressed genes were identified. The analysis identified a transcriptomic signature…

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High Levels Of Caregiver Burden Measured In Prader-Willi Syndrome

High levels of caregiver burden measured in Prader-Willi syndrome

MARCH 2018 - This study aimed to measure levels of caregiver burden and explore the impact of PWS on caregiver quality of life by examining burden in 142 caregivers (predominantly mothers) of children and adults with PWS living in the USA using the Zarit Burden Interview. Results showed that caregivers experienced strikingly high caregiver burden with ZBI scores being highest for caregivers of teenage and young adult individuals with PWS,…

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Diazoxide benefits for PWS confirmed in Magel2 deficient mice with improved endurance capacity

FEB 2018 - Diazoxide Choline Controlled Release (DCCR) is currently being developed by Soleno Therapeutics following a successful phase 2 trial in PWS patients which observed improvements in hyperphagia, a reduction of body fat and increase in lean body mass. They are advancing DCCR into a phase 3 clinical development program which is due to start recruiting from March 2018. A newly published study at the University of Alberta tested whether chronic diazoxide administration can reduce fat mass…

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Aberrant, autistic, and food-related behaviours in PWS – comparisons between adolescents, young adults and adults.

FEB 2018 - These studies explored the differences of age as well as genotype in regards to the severity of behavioural symptoms in PWS, with emphasis on the comparison between the adolescent, young adult and adult age groups. Statistically significant differences were found in behaviour scores, with higher scores in young adults than adults (results) and higher scores in young adults than adolescents (results). Differences between the two adult age…

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Millendo Therapeutics To Develop AZP-531 ‘Livoletide’ Following Promising Phase 2 Trial Results

Millendo Therapeutics to develop AZP-531 ‘Livoletide’ following promising phase 2 trial results

JAN 2018 - Circulating levels of orexigenic Acylated Ghrelin (AG), the ‘hunger hormone’, are known to be elevated in PWS with a relative deficit of Unacylated Ghrelin (UAG). AZP-531 is an unacylated ghrelin (UAG) analog which had been shown to inhibit the orexigenic effect of AG in animals and to improve glycemic control and decrease body weight in humans. This phase 2 study investigated the safety and efficacy of AZP-531 in patients…

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Australian Magel 2 research closer to waking dormant maternal PWS genes

JAN 2018 - News from the Prader-Willi Research Foundation of Australia: Associate Professor Marnie Blewitt at the Walter and Eliza Hall Institute of Medical Research (WEHI) has identified 3 well known medical compounds which are non-toxic, and all inhibit the activity of a protein known as SMCHD1. SMCHD1 normally keeps the maternal copy of MAGEL2 (a gene associated with PWS) and the neighbouring genes switched off, prompting the body…

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Snord116 research news from the Garvan Institute of Medical Research, NSW, Australia

OCT 2017 - Hypothalamus Specific Re‐Introduction of SNORD116 Increased Energy Expenditure The Snord116 gene cluster has been recognised as a critical contributor to PWS, with mice lacking Snord116 displaying many classical PWS characteristics, including low postnatal body weight, reduced bone mass and increased food intake. However, these mice do not develop obesity due to increased energy expenditure. To understand the physiological function of Snord116 better and potentially rescue the altered metabolism…

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PATH for PWS (Paving the way for Advances in Treatments and Health)

A study to help better understand serious medical events in PWS over a 4-year period, as well as evaluate how PWS related behaviours change over time. The data from this study is intended to inform the development and clinical trial design of potential new treatments. This is an online study with no visits required. The enrolled participant with PWS must be 5yrs+ and live in the USA, Canada, Australia or New Zealand. For the time and effort of participating in this study, participants will receive e-gift card vouchers for Amazon Australia. For more information and to enroll, visit www.pathforpws.com. Read More >

Mindfulness-Based Intervention for Temper Outbursts

Evaluating mindfulness-based intervention for managing temper outbursts and the impact on anxiety. Researchers at The University of Sydney are recruiting individuals with and without PWS, 13 to 30 years, who have a mild intellectual disability or typical IQ. Conducted remotely via phone, email and video-conference, the study is open to families within and outside of Australia. Primary caregivers will be trained to use and teach the intervention. A teacher or support worker will help monitor behaviours. Read More >

Oxytocin Research (Australia)

Recruiting individuals with and without PWS ages 13 to 30 years. It involves a 2 hour visit at either the University of Sydney in Camperdown, NSW or the Royal Children’s Hospital in Parkville, Victoria. Read More >

Liraglutide for weight management

As part of a multi-centre international trial, Prof Paul Hofman at Starship Hospital has been recruiting patients 12-18 years with BMI>95th percentile.

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Liraglutide has an extensive safety record in adults and similar, albeit less, data in adolescents and children. Funding exists for patients and their family to travel to Auckland for study visits during a 12 month trial. Click to read further information about this trial. (Liraglutide is a GLP Receptor Agonist. GLP-1 is a gut derived hormone which reduces food intake and causes weight loss due to slowed gastric emptying and through direct central effects.) Contact:  p.hofman@auckland.ac.nz

Sleep in genetic neurodevelopmental disorders

Researchers at the University of Canterbury investigating the effectiveness of treatments for sleep disturbance wish to gather information related to parents’ perceptions about their child’s sleep problems.

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Open to parents of children of any age, so parents can complete for their adult child too. Participation is by a short (10-15 minute) online survey – survey link.
Contact: Laurie McLay. Ph (03) 369 3522

More about clinical trials…

More information about trials taking place specifically for PWS can be found here, and you are also able to search the Australian New Zealand Clinical Trials Registry and ClinicalTrials.gov


Have you signed up yet? 

The purpose of the PWS Registry is to enhance the understanding of the full spectrum of PWS characteristics.  The registry will also accelerate the completion of studies and clinical trials, plus determine areas of needed research and treatments.

Register to provide details on topics such as as developmental milestones, scoliosis, medications, appetite, behaviour and other clinical symptoms. You do not need to complete the entire registry in one sitting!