Become a Research Participant

Supporting PWS research is vital to finding successful treatment and symptom management strategies. Families can support PWS research by participating whenever possible as a research subject.

Below is information on current research studies in which you may be able to participate.

Are you a father of a child with a genetic syndrome?

You are invited to participate in this study as a father or male caregiver of a child diagnosed with a diagnosed neurogenetic disorder (such as 22q11.2 deletion syndrome, Velo-cardio-facial syndrome, DiGeorge syndrome/sequence, Fragile X, Down syndrome, Prader-Willi syndrome, Tuberous Sclerosis, etc.).

This study is about how your child has impacted the lives of fathers and male caregivers. We are interested in how fathers/male caregivers have coped, and how the resources that are available to them have helped or hindered the experience. The aim of this study is to gain a broader understanding of issues facing fathers and male caregivers to children with diagnosed neurogenetic disorders. We hope that the results of the study may improve health care processes and models associated with these conditions.

If you choose to complete this survey, you will be helping us to gain a greater understanding of managing the diagnosis situation. Hopefully, the findings will provide parents in the same situation with more guidance and tools.

WHAT WOULD YOU BE ASKED TO DO?

The survey will take approximately an hour to complete. There are no correct or wrong answers to any of the questions. If you do not wish to answer a particular question, it is okay not to answer and move on to the next question. Please take your time in thinking about each question before recording your response.

WHO CAN PARTICIPATE?

We are seeking people 18 and over who are either a parent or a caregiver to an individual with a genetic developmental disability.

WANT TO FIND OUT MORE?

If you want to find out more information, or would like to complete the questionnaire, please click here or go to https://www.surveymonkey.com/s/CKCCWGD. You will be provided with an information statement about the study, you can then choose whether you would like to proceed to the survey or to discontinue.

Website for Study

Energy Expenditure

Looking for children participants for research study investigating energy expenditure (calories spent) in children with Prader-Willi Syndrome during walking

Purpose: This study will find out how many calories children with Prader-Willi Syndrome (PWS) spend while walking on a treadmill at different speeds in comparison to children without PWS.

Requirements:

  • Children with and without PWS ages 7-12 years old.
  • Ability to walk continuously for 5 minutes.
  • Complete one visit to California State University, Fullerton lasting 2.5 hours.

Compensation: Children will receive a $20 gift card for their participation!

For more information or to participate in this study, please contact us or visit our website.

  • Dr. Daniela Rubin: 657-278-4704 / drubin@fullerton.edu
  • Research office: 657-278-3671 / pwstudy@fullerton.edu
  • Website: http://pws.fullerton.edu
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 michelle.mackenzie@ualberta.ca

Phase 1 has been completed

Phase 2 has not started recruiting

Telehealth Intervention Study for Children with PWS
Information for Parents

 

Research shows that imaginative play is related to important areas of development, such as social communication. Since many children with PWS have challenges with social‐emotional skills, intervention targeting these skills through pretend play can improve quality of life and reduce problem behaviors.

What is the goal of this research?
1. To administer a play‐based intervention in participants’ homes using videoconferencing (telehealth) to build skill sets based on the child’s development
2. To determine feasibility of using telehealth intervention in this population.
Who can participate?

We are currently recruiting children 5‐11 years of age with PWS and their parent/primary caregiver.

Download the FLYER for details and contact information.

Dr. Kristen Maglieri, a Clinical Psychology student at the School of Psychology, National University of Ireland, Galway, supervised by Prof. Brian Hughes, is carrying out a study that is concerned with understanding how parents cope with and manage the daily stress associated with having a child with a disability (if any) and what factors make stress more or less likely.

This study is concerned with how parents in a relationship cope with the daily stress (if any) of raising a child with an Intellectual Disability, Autism or genetic disorder (e.g., Fragile X, Down syndrome, PWS). Stress in parents is an important issue and many have studied this topic before. What is different about our study is that we want to collect responses from both mums and dads and we are interested in how couples work together to deal with the stresses and strains they encounter as parents of a child with a disability. As a society, we need to learn more about how to help couples cope with stress. I know that many of you might be a little tired of filling out questionnaires, but I would really appreciate if you could participate and encourage your partner to take part too. This study will take approximately 30 minutes to complete. You can still participate even if your partner does not wish to participate. Click the link for more information about the study or to take part:

https://www.surveymonkey.com/r/parentcoping

For more information on this study or to request a paper copy of the survey, contact parentcopingstudy@gmail.com or +353 87 363 8448.

Study of Behavior in Prader-Willi Syndrome: 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 aged 5 and up through adulthood 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. There are travel funds to help with expenses. Parents who are interested should contact Elizabeth Roof at elizabeth.roof@vanderbilt.edu or 615-343-3330 to get more information about the study

Early Phenotype Survey

Purdue University is currently recruiting families of children ages 3 years and younger with Prader Willi syndrome to participate in a longitudinal study about early development. Participation can be completed online and via phone, and families are provided $15 gift card for each assessment. Please contact nddfamilylab@purdue.edu for more information or view the flyer.

The Effect of Growth Hormone Replacement Therapy on Physical 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 (314) 268-4027 whitmanb@slu.edu

 Home-based Active Play study for Parents and Youth

Looking for children participants for a play-based exercise study

Purpose: This study will find out how play-based activities improve developing motor skills

Requirements:

  • Children with and without PWS ages 4-7 years old.
  • Family willingness to complete the 12 week program at home.
  • Attend three visits to California State University, Fullerton lasting 2 -3  hours each.
  • Participate in two playdates.

Compensation: Children will receive a package of toys worth $10 and parents will $20 gift card following the first and last visits. Free parking is also provided and mileage reimbursement to attend the visits.

For more information or to participate in this study, please contact us, visit our website, or download the flyer above.

  • Dr. Daniela Rubin: 657-278-4704 / drubin@fullerton.edu
  • Diobel Castner: 657-278-8737 / dcastner@fullerton.edu
  • Research office: 657-278-3671 / pwstudy@fullerton.edu
  • Website: http://pws.fullerton.edu
PWS and Early-Onset Morbid Obesity Natural History Study – All Persons with PWS
Conducted by Virginia Kimonis, M.D., Chief, Division of Genetics and Metabolism, UCI Med Ctr.
The purpose of this study is to collect natural history information on PWS and early onset morbid (severe) obesity.
WHO: Persons with a confirmed diagnosis of Prader-Willi syndrome ages birth- 60 years, receiving and not receiving growth hormone.
WHERE: UCI Medical Center and General Research Centers at UCI Med Ctr. and Children’s Hospital, Orange County in Orange, CA.
CONTACT: Virginia Kimonis, M.D. at 714-456-5791 or email at vkimonis@uci.edu or Sandra Donkervoort, MS, CGC research coordinator at 949-824-0521 or email at sdonkerv@uci.edu.

The PRETEND (Parent‐focused Remote Education to Enhance Development)

Looking for children 3‐5 years of age with PWS and their parent/primary caregiver.

What is the goal of this research?

  1. To examine social, cognitive, and emotional behavior in children with Prader‐Willi Syndrome and compare them to children without PWS in order to understand strengths and challenges in social communication in PWS.
  2. To evaluate the feasibility of a parent training and education program designed to increase learning and play between parents and children with PWS while decreasing problem behaviors.

Download the FLYER for details and contact information


You can also search current and past clinical trials here: Clinical Trails on Prader-Willi syndrome