An observational study in Prader-Willi Syndrome and Obesity, sponsored by University of Florida. Completed at 4 sites in United States. Open to participants aged Up to 60 Years. Per ClinicalTrials.gov, last updated 2014-09-22.
Sponsored by University of Florida · Observational
Prader-Willi syndrome (PWS) is a rare genetic disorder that affects about 1 in 14,000 people in the United States. As the most commonly identified genetic cause of obesity, PWS is often confused with Early-onset Morbid Obesity (EMO). Individuals with EMO show some signs of PWS, but clinically do not have PWS. The purpose of this study is to evaluate the clinical features and genetic basis of PWS and EMO, and to determine how these conditions affect a person throughout a lifetime.
PWS is a complex neurobehavioral syndrome. Clinical features include obesity, increased appetite, low muscle tone, cognitive impairment, distinct behavioral features, hypogonadism, and neonatal failure-to-thrive. It is the most commonly recognized genetic cause of obesity; however, many obese children do not in fact have PWS. These individuals are therefore diagnosed with EMO, a condition that shares features with PWS. The development of new advances and strategies for treating PWS and EMO requires a thorough understanding of the conditions at both the clinical and molecular levels. One goal of this study is to collect long-term data on individuals with PWS and EMO in order to gain a better understanding of the natural progression of the conditions, from the neonatal period well into adulthood. Specific to PWS, this study will establish a genotype-phenotype correlation among the different sub-types and will evaluate the effects of growth hormone treatment on disease progression. Lastly, the study will compare PWS with EMO in terms of clinical features and genetic basis.
Participation in this natural history study will entail an initial evaluation, followed by yearly study visits until the age of 3 and then every 2 years thereafter. Each study visit will last between 3 and 4 hours, and will include a physical exam (including a DEXA scan to determine body composition), psychological testing, an interview with the study physician, and an evaluation of the participant's diet history. In addition, blood tests will be completed for genetic testing and photos will be taken to evaluate disease progression. Cognitive and behavioral assessments will also be conducted and will last between 10 and 30 minutes.
138 studies on the registry are indexed under Prader-Willi Syndrome; 24 are open to participants now.
This study's enrollment of 392 is above the median of 52 across 34 observational studies indexed under Prader-Willi Syndrome.
Browse Prader-Willi Syndrome studies →University of Florida is the lead sponsor of 1,254 studies on the registry; 201 are open to participants now.
Of its 170 completed or terminated interventional studies of FDA-regulated products, 136 (80%) have results posted.
Counted across the registry records on this site, refreshed daily.
Individuals with Prader-Willi syndrome and Early-onset Morbid Obesity
Exclusion Criteria:
Individuals with Prader-Willi syndrome.
Other: Group 1
Individuals with Early-onset Morbid Obesity
Other: Group 2
Individuals with Prader-Willi syndrome. Monitoring every 6 months.
Also known as: Prader-Willi syndrome, PWS
Individuals with Early-onset Morbid Obesity.
Also known as: PWS
Phenotypic assessments of participants
phenotypic assessments will include cognitive level, behavioral analysis, physical features including body measurements and composition, co-morbidities (skin picking, psychiatric history, seizures, autistic behavior) medications required, and further comparison with the underlying molecular diagnosis.
Time frame: until end of study
longitudinal pattern of progression
assessment of cognition, behavior and body composition. In addition the age that growth hormone treatment began in the PWS participants will be correlated with physical features, body composition, cognition, behavior, developmental milestones, pubertal issues, and the onset of nutritional phases.
Time frame: until end of study
This study is completed, as verified in Sep 2014. You cannot join it, but the record below documents what was studied.
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University of Florida