Foundation for Prader-Willi Blog | Research

PWS Clinical Trials Alert: April 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

LaSalle Gene Research Paves Way for PWS Sleep and Metabolism Therapies

Sleep disorders are common in Prader-Willi syndrome (PWS). These are associated with central and obstructive apnea, disrupted sleep, and excessive daytime sleepiness. But why exactly do individuals with PWS have abnormal sleep patterns?

Dr. Janine LaSalle has uncovered an exciting new link between the missing genes in the PWS region of chromosome 15, and genes that control our circadian rhythms (i.e., our daily sleep-wake cycle). This intriguing discovery opens the way for new therapies to regulate sleep and metabolism in PWS, which Dr. LaSalle is currently investigating with support from FPWR. I recently spoke with Dr. LaSalle about her background, the current research in her lab, and her outlook on PWS.

Topics: Research

New Evidence Supports Benefits of Hippotherapy

A new study highlighted in Medical News Today further supports the benefits of hippotherapy with regards to behavioral tasks and cognitive development. Hippotherapy is the use of horseback riding as a therapeutic or rehabilitative treatment.

Topics: Research

Bearden Research Transforming Understanding of Mental Illness in PWS

Behavior and mental health issues are an important part of Prader-Willi syndrome (PWS). In particular, one of the most challenging aspects for families to face is the onset of psychosis (i.e., mental illness characterized by symptoms, such as delusions or hallucinations, that indicate an impaired contact with reality). Recognizing the early — or “prodromal” — signs of psychosis can be a very effective path to intervention and treatment.

While relatively new to the PWS community, Dr. Carrie Bearden has extensive experience studying the causes of psychosis in neurodevelopmental disorders, and has recently been funded by FPWR to identify these early signs of mental illness in PWS. I recently talked with her about her background, research, and perspective on PWS.

Topics: Research

Schaaf Research Connects Missing MAGEL2 Gene to PWS Symptoms

Prader Willi syndrome (PWS) results when a set of key genes on chromosome 15 are missing and/or inactive. Figuring out the role played by each of these genes in PWS is a major goal for PWS research. One of the genes in the PWS region is called MAGEL2.

Dr. Christian Schaaf is actively pursuing the question of how a missing — or disrupted — MAGEL2 gene translates into the classic symptoms of PWS and related genetic disorders. He's particularly interested in testing the connection between MAGEL2 and autism-like behaviors.

Dr. Schaaf's work has been supported by FPWR in two funding cycles. I recently talked with him about his background, research, and focus on PWS.

Topics: 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

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

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