Characteristics of Prader-Willi Syndrome and Early-onset Morbid Obesity
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.
|Study Design:||Observational Model: Cohort
Time Perspective: Prospective
|Official Title:||Prader-Willi Syndrome and Early-onset Morbid Obesity Natural History Clinical Protocol|
- Phenotypic assessments of participants [ Time Frame: until end of study ] [ Designated as safety issue: No ]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.
- longitudinal pattern of progression [ Time Frame: until end of study ] [ Designated as safety issue: No ]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.
Biospecimen Retention: Samples With DNA
Blood samples for both DNA and RNA
|Study Start Date:||September 2006|
|Estimated Study Completion Date:||July 2014|
|Estimated Primary Completion Date:||July 2014 (Final data collection date for primary outcome measure)|
Individuals with Prader-Willi syndrome.
Other: Group 1
Individuals with Prader-Willi syndrome. Monitoring every 6 months.
Individuals with Early-onset Morbid Obesity
Other: Group 2
Individuals with Early-onset Morbid Obesity.
Other Name: PWS
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.
|United States, California|
|University of California at Irvine||Recruiting|
|Orange, California, United States, 92868|
|Contact: Virginia Kimonis, MD 714-456-5791 email@example.com|
|Principal Investigator: Virginia Kimonis, MD|
|United States, Florida|
|University of Florida||Recruiting|
|Gainesville, Florida, United States, 32610-0296|
|Contact: Daniel J. Driscoll, PhD, MD 352-294-5050 firstname.lastname@example.org|
|Principal Investigator: Daniel J. Driscoll, PhD, MD|
|Principal Investigator: Jennifer Miller, MD|
|United States, Kansas|
|Kansas University Medical Center||Recruiting|
|Kansas City, Kansas, United States, 66160|
|Contact: Merlin G. Butler, MD, PhD, FFACMG 913-588-1800 email@example.com|
|Principal Investigator: Merlin G. Butler, PhD, MD|
|United States, Tennessee|
|Vanderbilt University Medical Center||Recruiting|
|Nashville, Tennessee, United States|
|Contact: Elizabeth Roof, MA 615-343-3330 firstname.lastname@example.org|
|Principal Investigator: Marshall L. Summar, MD|
|Study Chair:||Arthur Beaudet, MD||Baylor College of Medicine|