Foundation for Prader-Willi Blog | Research

Will Vagus Nerve Stimulation Effectively Treat Behavior in PWS?

Vagus nerve stimulation (VNS) offers the possibility of a unique, non-pharmacotherapy for treating behavior in PWS, Prader-Willi syndrome. A small pilot study involving three patients with PWS has shown promising results, and next steps are already underway to further investigate this possible treatment.

Topics: Research

PWS Clinical Trials Alert: January – March 2017

For more information on the opportunities below, as well as others, please visit our PWS Clinical Trials Opportunities page or (and search for "prader-willi"). We encourage members of the PWS community to seek out information that will help them decide whether participation is right for them. Please contact the study coordinators directly for important details about each study and to answer any questions you may have. Some trials may have funds available to support travel to study sites.

In addition to new studies, there may be changed criteria for older studies, so please read through carefully, check out the clinical trials webpage, and see how you might be able to contribute.

Topics: Research

Cell Culture Model Used to Study How PWS Genes Regulate Hormones

Hormones are little messengers that circulate in the body, carrying important information from one location to the next, and triggering the appropriate response to that information. Numerous hormone levels are altered in PWS. These include hormones that regulate feelings of hunger and fullness, hormones that impact development, growth, and puberty, and hormones that control metabolism. For example, growth hormone deficiency is well known to the PWS community andgrowth hormone treatment has shown to be an effective therapy, improving several clinical outcomes including body composition, height, muscle function, bone density, metabolism, development, and cognition.

Topics: Research

How to Address the Challenges of Developing PWS Therapies

Prader-Willi syndrome (PWS) is a complex disorder, and, to date, supportive care and growth hormone therapy are the only treatments available. The rarity of PWS, the fragmentation of experts and stakeholders involved at each stage of therapeutic development, and limited funding add layers of complexity in the development of safe and efficacious PWS therapies.

Therapeutic development is a risky process that often requires more than 10 years and billions of dollars to complete. Unfortunately, 90 percent of drugs fail due to a lack of effect in patients.

The research plan for PWS needs to be comprehensive and proactive and include the right programs and tools to overcome these challenges and fill existing gaps. FPWR’s grant program and other research initiatives developed over the last decade have greatly advanced our basic understanding of both the genetic and molecular mechanisms of PWS, opening avenues for therapeutic development.

FPWR’s 5-year research plan for PWS comes at a crucial moment to accelerate the development of therapies by acting at each stage of the therapeutic development pathway.

Topics: News, Research

Temperature May Impact Gene Expression in Mice During PWS Research

There are several mouse models used in PWS research, each missing some part of the DNA that is absent in PWS. Two of the most commonly used mouse models are the Snord116 mouse and the Magel2 mouse. Each of these has a deletion of the respective PWS-related gene.

These "deletion" mouse models are some of the best available tools for research, and they have provided a tremendous amount of valuable information to help us better understand PWS. However, to date, these mouse models have not mimicked all of the symptoms of PWS. For example, one model may have intense food-seeking behavior and overeat, but not develop obesity. Another model may be obese and have poor muscle function but not display the drive for food.

Topics: Research

Identifying the Role of the 'Hunger Hormone' Ghrelin

There are numerous hormones that are intricately involved in connecting the stomach to the brain and telling us when we are hungry or full. One of these hormones is ghrelin, which is often referred to as "the hunger hormone." Although individuals with PWS have higher than typical levels of ghrelin, it is still unclear whether higher ghrelin drives hyperphagia in PWS. The underlying cause for higher levels of ghrelin in PWS is also unknown.

Teasing out the role of ghrelin will help direct potential therapies targeted at the ghrelin system. Dr. Jeffrey Zigman at the University of Texas Southwestern is working to answer some of the questions around ghrelin with his project "Ghrelin: Is it detrimental, beneficial, or inconsequential in Prader-Willi Syndrome?." The project explores whether high ghrelin in PWS is "good" or "bad."

Topics: Research

New Study on Social Functioning Intervention for Young Adults with PWS

Family members and caretakers of individuals with PWS know that those individuals are often the friendliest people in a room, particularly when they are young children eager to give a hug.

However, people with intellectual or developmental delays often suffer from social isolation, loneliness, depression, and anxiety, all of which can contribute to poor health.

An FPWR-funded project will recruit young adults for a group intervention aimed at improving social skills, perceptions and thinking, and managing a range of social and emotional issues.

Topics: Research

Study Ties PWS Characteristics to PC1 Enzyme Deficiency [VIDEO]

FPWR is excited to share a new discovery in Prader-Willi Syndrome! Columbia University Medical Center researchers Lisa Burnett, PhD, and Rudolph Leibel, PhD, have published a breakthrough discovery in the Journal of Clinical Investigation that changes our understanding of PWS and opens up new avenues for therapeutic development.

Topics: Research

De-Risking PWS Drug Development Through Preclinical Screening

Any drug development process proceeds through several stages in order to produce a drug that is safe, efficacious, and has passed all regulatory requirements. The discovery phase converts what we have learned about the causes and the biology of the disease through basic research into new drug candidates.

Before drug candidates can be tested in humans, they need to show they are safe and efficacious in animal models of the disease. This second phase, called preclinical stage, requires developing animal models that recapitulate at least some of the features or mechanisms of the disease for which the drug has been developed. When successful, drug candidates are typically tested in humans in clinical trials through three phases namely I,II and III before approval. A drug that is shown to be safe and effective in these three phases can be approved and marketed to the public.

Topics: Research

Identifying the Neurobiology Behind Sleep Issues in PWS

Sleep disturbances and daytime sleepiness severely impact the quality of life for many with PWS, as well as their parents and caregivers. Within the Global PWS Registry, about 50% of respondents report that their loved one suffers from excessive daytime sleepiness.

Dr. Thomas Scammell's group at Harvard Medical School is working to help identify the underlying neurobiology behind sleep issues in PWS. They're exploring how reduced function of neurons in the hypothalamus region of the brain may significantly contribute to daytime sleepiness in a project titled "Wake promoting effects of oxytocin."

Topics: Research

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