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

Muscle Strength & Balance Regulation in PWS

California State University Fullerton would like to invite participants with PWS ages 18 to 35 years to participate in a study designed to understand which factors contribute to muscle force, balance and walking characteristics in PWS. The study will require one short visit (3-4 hours) to California State University Fullerton. During the visit participants will have their height, weight and body composition measured and will complete movement-related tests including force, balance, walking. Participants will also have an ultrasound of the muscles in their legs. Participants will receive a copy of the body composition scan and $50 cash at the end of the visit and will be reimbursed for mileage for the visits to CSUF up to 200 miles round-trip.

 

Requirements:

  • Adults with PWS ages 18-35 years old.
  • Complete one visit to California State University, Fullerton lasting 3-4 hours.

Compensation: Participants will receive a $50 cash at the end of the visit.

For more information or to participate in this study, please contact us:

Body weight is determined by the balance between the amount of calories eaten and the amount of calories used during the day. In our study, we will examine if the type of meal eaten has an effect on the amount of calories that are used and on appetite in children with PWS compared to children who do not have PWS. This study involves coming to the University of Alberta (in Edmonton) for three visits (each visit separated by 2 weeks).
We are recruiting children with PWS ages 10 to 17 years. Reimbursement for travel to the University of Alberta campus from within Alberta is available.
For more information about this study please contact Maha Alsaif at alsaif@ualberta.ca
The human gut contains bacteria (called gut microbes) that play an important role in food digestion. Changes in gut microbes are associated with obesity, but the role of gut microbes in the regulation of body weight in children with PWS is not fully understood. In our study, we will compare the gut microbe composition of children with PWS to children of similar age, gender and body weight who do not have PWS.
We are recruiting children with  PWS ages birth to 17 years. Reimbursement for parking at the University of Alberta campus for the study visit will be provided. For participants outside Edmonton, we will mail stool sample collection kit and study forms for them to complete and return on a pre-paid envelope provided by us.
For more information about this study please contact Shima Afhami at afhami@ualberta.ca

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.

Hyperphagia Research Study for Patients with PWS: Patients 16 – 65 years old with Prader-Willi syndrome and their caregivers are needed for a clinical trial to evaluate an investigational medication for treatment of hyperphagia. Travel assistance is available. 

 
If interested, contact Rachel Winograd at 858-966-8453 or rwinograd@rchsd.org  
 
The inclusion and exclusion criteria are copied below. For more information, you can also read more at https://clinicaltrials.gov/ct2/show/NCT03274856 

Inclusion Criteria:

  • Confirmed diagnosis of PWS based on genetic confirmation using DNA method
  • Body mass index (BMI) of 27 to 60 kg/m2
  • No evidence of weight excursion beyond 10% of baseline weight
  • Patients must provide assent and have a reliable caregiver (must have been caring for the patient for at least 6 months) who provides a separate written informed consent to participate. The caregiver is expected to be the primary caregiver throughout the study and must be in frequent contact with the patient (defined as at least 4 awake hours per day). The caregiver must be able to communicate with site personnel and in the investigator’s opinion must have adequate literacy to complete questionnaires. If a caregiver cannot continue, 1 caregiver replacement is allowed
  • Are on a stable diet and exercise regimen for >2 months prior

Exclusion Criteria:

  • Current enrollment in or discontinuation within the last 30 days from a clinical trial involving any investigational drug or device
  • Are currently living in a group home for more than 50% of the time
  • A history or presence of other medical illness that indicates a medical problem that would preclude study participation
  • Have an estimated glomerular filtration rate <60 mL/minute/1.73 m2. Have macroalbuminuria (defined as spot urine albumin to creatinine ratio of >300 μg/mg) or hematuria
  • Are hypertensive (defined as sitting systolic blood pressure (BP) greater than or equal to (≥)140 millimeters of mercury (mmHg) and diastolic BP ≥90 mmHg)
  • Patients on weight loss medications within 30 days of dosing, or with a history of bariatric surgery
  • Unable to refrain from or anticipates the use of:
    1. Any drugs known to be significant inhibitors of cytochrome P450 (CYP)3A enzymes and/or P-glycoprotein (P-gp) including regular consumption of grapefruit or grapefruit juice for 14 days prior to the first dose. Acetaminophen (up to 2 grams per 24-hour period) may be permitted
    2. Any drugs known to be significant inducers of CYP3A enzymes and/or P-gp, including St. John’s Wort
    3. Any medications that prolong the QT interval/corrected QT interval (QTc)
  • Currently taking simvastatin >10 mg per day, atorvastatin >20 mg per day, or lovastatin >20 mg per day, or have a history of statin-induced myopathy/rhabdomyolysis
  • Unsuitable for inclusion in the study in the opinion of the investigator

Early Phenotype Survey

Purdue University is currently recruiting families of children ages 5 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 study has recently been expanded to include children up to 5 years old.

 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

Recruitment will begin soon

The purpose of this study is to assess the efficacy of an investigational drug on hyperphagia-related behavior in subjects with Prader-Willi Syndrome (PWS) and assess the efficacy, safety and tolerability, and impact on physical activity of the investigational drug in subjects with PWS.

 

WHO: Persons 8-17 years of age with a confirmed diagnosis of Prader-Willi Syndrome. More details available at:

https://clinicaltrials.gov/ct2/show/NCT02844933

 

WHERE: UC Irvine Medical Center, and Children’s Hospital of Orange County Orange, California.

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