Prader-Willi Patients Have New Opportunity to Enter Clinical Trial

November 10, 2015

Late for lunch, not enough for dinner–we may think we’re familiar with the sensation of hunger, but for patients with Prader-Willi Syndrome, hunger is a whole different animal. The complex genetic disease shows it’s first signs with weak muscle tone, delayed development and poor growth. It most often starts in childhood and strikes patients with constant hunger. The insatiable emptiness leads to overeating, a higher risk of type 2 diabetes and obesity. There is also behavioral problems and mild to moderate intellectual impairment.

Stories of parents who have had to put entire kitchens on literal lockdown to stop their children from going through the food and harming themselves from overeating have been found around the rare disease community, but new hope has emerged. A new clinical study is on the rise and participants are needed.

University of California Irvine cites, “Recent scientific studies have implicated genetic variations in the MC4R cell signaling pathway a key pathway in humans that controls energy expenditure and appetite—as an important root cause of obesity. Importantly, the MC4R cell signaling pathway is predicted to control appetite abnormalities such as hyperphagia (excessive hunger) often experienced by those with Prader-Willi Syndrome (PWS).

Rhythm is developing an investigative new treatment, Setmelanotide—also known as RM-493
that aims to treat people with PWS establishing weight and appetite control in people with PWS. Setmelanotide restores lost function to a portion of a metabolic pathway that is believed to be defective in PWS patients. Such an effect, if demonstrated in clinical trials, might provide those with PWS a significant improvement in quality of life and the potential to live more independently.”


Study Location(s): University of California, Irvine Institute for Clinical and Translational Science (ICTS)

Purpose of the Study: A Phase 2, Randomized, Double-Blind, Placebo-controlled Pilot Study to Assess the Effects of RM-493, a Melanocortin 4 Receptor (MC4R) Agonist, in Obese Subjects with Prader-Willi Syndrome (PWS) on Safety, Weight Reduction, and Food-Related Behaviors


  • A confirmed diagnosis of PWS.
  • Age 16-65 years.
  • All race/ethnic backgrounds.
  • Male and Female
  • BMI ≥27 kg/m2
  • Receiving and those not receiving growth hormone
  • Are generally healthy based on initial screening exam results.


Time Commitment: This study includes 5 to 8 visits and will last a period of 70 to 163 days. There will be one visit every two weeks for the duration of the study. Each visit will be approximately an hour. The first two visits will be a screening to determine health status. The subsequent 3 to 6 visits will include the drug treatment, physical exam, blood draw, bone scan, and questionnaires.

Anticipated Benefits: There may be therapeutic effects for PWS by decreasing symptoms. There are potential side effects associated with this drug that will be discussed in detail with you before beginning the study.Compensation: $50 per completed visit for patient and $50 per visit for one parent/guardian plus travel expenses.

The study involves: 5-8 outpatient visits and up to 7 brief phone calls over a 14-week period

• The study drug at no cost
• Study-related evaluations and laboratory tests • Paid travel expenses

To learn more please contact:

Study Personnel: Abhilasha Surampalli Email: [email protected]

Lead Researcher: Virginia Kimonis, MD Division of Genetics and Metabolism, Professor of Pediatrics,
University of California, Irvine (UCI). Phone: (949) 824-0571

Claudia Shambaugh Email: [email protected]

Pager: (714) 506-2063 Email: [email protected]

Phone: (949) 824-0521

Study Location(s): University of California, Irvine
Institute for Clinical and Translational Science (ICTS)

Please contact UCI’s Office of Research by phone if no one else has been reached, (949) 824-6068, by e-mail at [email protected] or at 5171 California Avenue, Suite 150, Irvine, CA 92697-7600.

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