Participants Needed for PWS Studies
The National Institutes of Health maintains a searchable database that provides patients, family members and the public with information about current clinical research studies, see: clinicaltrials.gov . Click here to search this database for new, current and recently completed clinical trials relevant to people with Prader-Willi syndrome.
1. Characteristics of Prader-Willi Syndrome and Early-Onset Morbid Obesity (FL, KS, TN, CA)
2. Hypoglycemia in Prader-Willi Syndrome (FL)
3. Is there a sensibility increased in the growth hormone at child with Prader-Willi Syndrome (France)
4. Treatment of hyperphagia behavioral symptoms in children and adults diagnosed with Prader-Willi Syndrome (TN, NY)
5. Aromatase inhibitor in bone maturation, children with Russell or Prader-Willi Syndrome (France)
6. Brain-derived neurotrophic factor in obesity and brain function (MD, Alberta)
Additional research studies recruiting participants with PWS
Please contact each investigator or study coordinator directly for complete details to help you evaluate whether the study is right for you.
Survey of emotional/psychological well-being and coping resources of PWS parents
From Jane Goodwin, PhD candidate. School of Psychology, University of Newcastle
In 2012/2013, we at the University of Newcastle Australia conducted a study of how parents disclose a genetic disorder to their children. Following on from that study, we would like to further understand how having a child with a neurogenetic condition has impacted parents’ and/or caregivers’ lives. This includes their emotional reaction, coping resources and psychological well-being.
We are currently running an online survey and are looking for parents of children with genetic conditions to complete it. These conditions include 22q11.2 deletion syndrome, Down syndrome, Tuberous Sclerosis, Prader-Willi syndrome, Williams syndrome, Fragile X syndrome, or a syndrome of unknown origin: that is, an as yet undiagnosed syndrome.
Are you a parent or caregiver to a child with Prader Willi Syndrome? Following on from an earlier study, the University of Newcastle would like to further understand how your child has impacted your life and how you have coped. You can do this study even if you participated in the Disclosure study in 2012/2013. To read more, or complete the survey click the link below:www.wix.com/c3094005/geneticdisorders
For more information, please contact Jane.Goodwin@uon.edu.au
Carbetocin, a selective oxytocin agonist in the treatment of PWS
(note: this is a description of the "Treatment of hyperphagia behavioral symptoms in children and adults diagnosed with Prader-Willi Syndrome", above) From Dr. Elizabeth Roof at Vanderbilt University (01/09/14)
We have been approved to do an investigational drug treatment study here at Vanderbilt and Winthrop University in New York with Dr. Angulo. We are working with Ferring Pharmaceuticals to try a new nasal spray with carbetocin, an selective oxytocin agonist. We are seeing 20 people here and 20 people with PWS between the ages of 10-18 in NY and about half will get the study drug and half will get a placebo that looks and smells like the study drug. We will not know, nor will the doctor or you or your child know.
We are scheduling people now for every week in the coming 6 months. The study involves 2 visits 15 days apart and the time line is very strict with new patients being enrolled M-W. You will be pre-screened on the phone to make sure your child fits all the criteria which includes HYPERPHAGIA which is one of the possible targets of the drug. We would ask about medication changes, recent surgeries and any chronic nose problem or severe asthma that requires daily treatment. We would make sure that you understand all of the parts of the study by sending you a consent form to read and ask us all questions before your child enrolled.
If your child qualified, you would come to Vanderbilt on a Monday morning with your child and we would ask a lot of questions about behavior and health, they would get their blood drawn, give a urine sample, have an EKG and get height weight and vitals taken. A doctor would do a physical and make sure they were healthy enough to participate. If so, you would leave that afternoon, go back to the hotel and early the next morning we would see you child again, give them the first dose of spray and teach you how to give it. We would monitor their vital signs and take 3 blood samples to see how much of the medicine was in their blood at certain times. Your child could bring their schoolwork, games and movies to watch and we would have some fun games for them to do during downtime. They would get a dose before each meal on Tuesday and Wednesday and we would continue to monitor all vital signs before we sent you home on Wednesday. You would sign for and get daily delivery of the drug and give it to your child before breakfast, lunch and dinner. You would write down what time you gave it every day in a diary and give it to the person who picks up your used medication bottles. On Tuesday, Day 8, I would call you and find out how your child is doing. On Day 15, Tuesday, you would come back in and let us do a physical and EKG and draw one last sample of blood. Then you would return home and at the end of the week, I would give one more call to see how your child is doing.
I know this study involves a lot of time and travel, but many of our families handle more than this every day with Drs. appointments and daily injections of GH. We would love to hear from you if you think your child qualifies and you are willing to commit to the this short, but pretty intense schedule. Please contact me if you want to hear more. firstname.lastname@example.org
Extraction of Neuronal Stem Cells from Dental Pulp for Human Neurogenetic Disease Studies
On-Line Temper Outburst Survey - University of Sydney
Dr. Steward Einfeld of the Brain & Mind Institute, University of Sydney, is studying temper outburst behavior in Prader-Willi syndrome, and has developed an online survey to better understand this behavior. To learn more and participate, please click here.
Participants Needed for PWS Research, Alberta Canada
Dr. Andrea Haqq (a Pediatric Endocrinologist at the University of Alberta) is recruiting children with PWS 5‐17 years of age for three research studies. Children 5‐17 years of age without PWS are also being recruited for all studies.
Study One: The purpose of this study is to determine if there is a specific type of meal (such as high protein‐low fat or high protein low carbohydrate) that would promote satiety in children with PWS. This study involves coming to the University of Alberta (in Edmonton) for three visits (each visit separated by 2 weeks).
Study Two: Dr. Haqq’s recent research has shown that children with PWS have lower levels of a peptide that is involved in neurological development (called brain‐derived neurotrophic factor or BDNF). The purpose of this study is to determine if the level of BDNF in blood is associated with eating behaviors and cognitive function in children with PWS. This study involves coming to the University of Alberta for one day. Study Two is funded by FPWR.
Study Three: The purpose of this study is to examine if autonomic nervous system function, the distribution of body fat, and level of hormones in blood is different in children with PWS. This study involves coming to the University of Alberta for two days.
For more information about these studies contact Dr. Haqq’s research coordinator Michelle Mackenzie at 780‐407‐7241 or email@example.com
Behavior in Prader-Willi Syndrome (07/02/2010)
This NICHD-funded study is a continuation of the current Elisabeth Dykens PWS study to characterize and accurately describe the behavioral features of Prader-Willi Syndrome (PWS) and how these can be different based on age, gender, family history and genetic subtype of PWS. The study looks at key psychiatric features of PWS, like rigid and repetitive behaviors, insistence on sameness, tantrums, aggression and depression and how these change over a lifespan. We want to see if intervention timing is related to successful outcomes and effectiveness. We hope to see 170 families with children, teens and adults with PWS for a one day visit at Vanderbilt Kennedy Center in Nashville TN over the next 5 years. We want to see how children with PWS change and we will follow them every other year to track changes. Parents will receive a written feedback report of all results and behavioral management tips during visit. Parents who are interested should contact Elizabeth Roof at firstname.lastname@example.org or 615-343-3330 to get more information about the study.
The Effect of Growth Hormone Replacement Therapy on Pysical and Behavioral Sexual Development in Persons with Prader-Willi Syndrome
Drs. Myers and Whitman of St. Louis University are performing a study to examine the impact of growth hormone replacement therapy (GHRT) on the sexual/gonadal maturation and functioning, and sexual behavior of males and females with Prader-Willi syndrome (PWS). This study is supported by FPWR. The subject population will include 20 adults (10 males and 10 females ages 18 years and over) and 20 youngsters (10 males and 10 females between the ages of 10-14 years) with Prader-Willi syndrome. Adults will be divided between 10 adults previously treated with growth hormone replacement therapy (GHRT) and 10 naive to GHRT. Youngsters will be drawn from those currently receiving GHRT. GH is provided, free of charge, by Pfizer.
A small stipend towards travel may be available for some families. Also Dr. Whitman has recently received another grant from PWSA for studying the hyperphagia and your child can also help out by participating in this new study at the same time if s/he is interested.
For more information about this study, please contact:
Dr. Barbara Whitman
Saint Louis University School of Medicine
Exercise in Children with Prader- Willi Syndrome
Researchers in the Kinesiology Department at California State University Fullerton (CSUF), in collaboration with the Children’s Hospital of Orange County (CHOC) located in the city of Orange in CA, are investigating the hormonal and metabolic responses to exercise in children with PWS and without PWS. The purpose of this study is to characterize these responses to exercise based on body fat or the genetics of PWS.
We intend to recruit youth with PWS between the ages 8-18 years old for a three-visit study (1.5 hours for the 1st visit to CHOC, 1 hour for a visit to CSUF, and 3 hours for a 2nd visit to CHOC). During both visits to CHOC the children will complete resistance exercises while wearing a weighted vest, in the 1st visit they will complete a health screening, and in the 2nd visit they will have their blood drawn. The visit to CSUF is for a body composition x-ray scan. Participating youth will be compensated with play equipment (worth $10) and a gift card worth $25 for their time, and parents/caregivers for mileage and parking.
For more information or to participate in this study, please contact Dr. Daniela Rubin by phone (714-278-4704) or by email at email@example.com or Dr. Dan Judelson at 714-278-5423 or by email at firstname.lastname@example.org. Hablamos español.
Prader- Willi Syndrome and Early Onset Morbid Obesity Natural History - Children's Hospital of Orange County
The purpose of the study is to collect natural history information on Prader-Willi syndrome and early onset morbid obesity to learn more about how these conditions can affect a person throughout his or her life from birth to an adult. This will mean better management and treatment in the future. The study takes about 4 hours and will include an interview, physical exam, blood draw, bone scan, intelligence and behavioral tests. This study is one of the sites for the Prader Willi Study that is part of the Angelman, Rett and Prader Willi Syndromes Consortium.
Children’s Hospital of Orange County
Contact: Virginia Kimonis, MD, Professor of Pediatrics,
University of California, Irvine (949) 824 0521/0571;