Prader Willi Syndrome

Prader-Willi syndrome (PWS) is a rare genetic disorder that causes individuals with the disease to have an insatiable appetite, which often leads to the development of morbid obesity. The syndrome has two separate, opposite phases – infants with PWS find it difficult to feed and are often underweight, while children and adults eat voraciously and rapidly gain weight if their food intake is not strictly controlled. The switch between the two phases generally takes place around 2-6 years of age. People with PWS also have short stature, poor muscle development, behavioural problems and a range of other characteristics. Many experience co-morbidities of obesity, such as type 2 diabetes and cardiovascular disease, leading to a shortened life span.

What treatments are available?

There is currently no pharmacological treatment for excessive appetite in PWS. The only way that this appetite can be controlled is through constant vigilance, behavioural restraints and environmental modifications such as locked fridges and cupboards. Many adults with PWS would be able to live more independently if there were effective treatments to curb their appetite.

What has Garvan found out about PWS?

Our group has conducted clinical research in several areas of PWS to understand the physiological basis for the insatiable appetite and to develop treatment to combat it, as well as investigating the mechanisms of cardiovascular risk in this disease. We looked at how hormones released from the gut after eating can influence the balance of hunger and fullness differently in people with PWS compared to healthy people. Since these hormone pathways are so important in PWS, we then tested a hormone-like drug and found that a single injection was successful in causing increased fullness in people with PWS, a hugely promising finding. We have also identified two things that are related to increased cardiovascular risk in this syndrome: a problem in the cardiac regulation of the autonomic nervous system and increased low-grade inflammation.

What research is Garvan conducting in this area?

We have several new projects underway in PWS research – we’re looking at what PWS can tell us about the relationship between muscle, fat and bone, investigating the inflammatory response to eating in people with PWS and testing the long-term effects of a new drug on body weight and appetite. Finding potential treatments for Prader-Willi Syndrome is being made possible by private family donations. Garvan is extremely grateful to those who are enabling us to tackle this challenging area of work. 

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Quick Facts
  • "Most people have never heard of Prader-Willi Syndrome, as it only affects approximately one out of every 10,000-20,000 people and is believed to be under-diagnosed"
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