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Characteristics of Prader-Willi Syndrome and Early-onset Morbid Obesity

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ClinicalTrials.gov Identifier: NCT00375089
Recruitment Status : Completed
First Posted : September 12, 2006
Last Update Posted : September 22, 2014
Office of Rare Diseases (ORD)
Rare Diseases Clinical Research Network
Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD)
Information provided by (Responsible Party):
University of Florida

Brief Summary:
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.

Condition or disease Intervention/treatment
Prader-Willi Syndrome Obesity Other: Group 1 Other: Group 2

Detailed Description:

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.

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Study Type : Observational
Actual Enrollment : 392 participants
Observational Model: Cohort
Time Perspective: Prospective
Official Title: Prader-Willi Syndrome and Early-onset Morbid Obesity Natural History Clinical Protocol
Study Start Date : September 2006
Actual Primary Completion Date : January 2014
Actual Study Completion Date : January 2014

Resource links provided by the National Library of Medicine

Group/Cohort Intervention/treatment
Group 1
Individuals with Prader-Willi syndrome.
Other: Group 1
Individuals with Prader-Willi syndrome. Monitoring every 6 months.
Other Names:
  • Prader-Willi syndrome
  • PWS

Group 2
Individuals with Early-onset Morbid Obesity
Other: Group 2
Individuals with Early-onset Morbid Obesity.
Other Name: PWS

Primary Outcome Measures :
  1. Phenotypic assessments of participants [ Time Frame: until end of study ]
    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.

Secondary Outcome Measures :
  1. longitudinal pattern of progression [ Time Frame: until end of study ]
    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

Information from the National Library of Medicine

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Ages Eligible for Study:   up to 60 Years   (Child, Adult)
Sexes Eligible for Study:   All
Accepts Healthy Volunteers:   No
Sampling Method:   Non-Probability Sample
Study Population
Individuals with Prader-Willi syndrome and Early-onset Morbid Obesity

Inclusion Criteria:

  • Individuals enrolling in the Prader-Willi syndrome group will have a confirmed diagnosis of Prader-Willi syndrome, as confirmed by molecular and cytogenetic testing
  • Individuals enrolling in the Early-onset Morbid Obesity group will have a documented medical history of their weight exceeding 150% of the ideal body weight or a body mass index greater than 97% before the age of 4 years; they will also be under the age of 30 years.

Exclusion Criteria:

  • Known genetic, chromosomal, or hormonal cause of cognitive impairment other than Prader-Willi syndrome

Information from the National Library of Medicine

To learn more about this study, you or your doctor may contact the study research staff using the contact information provided by the sponsor.

Please refer to this study by its ClinicalTrials.gov identifier (NCT number): NCT00375089

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United States, California
University of California at Irvine
Orange, California, United States, 92868
United States, Florida
University of Florida
Gainesville, Florida, United States, 32610-0296
United States, Kansas
Kansas University Medical Center
Kansas City, Kansas, United States, 66160
United States, Tennessee
Vanderbilt University Medical Center
Nashville, Tennessee, United States, 37201
Sponsors and Collaborators
University of Florida
Office of Rare Diseases (ORD)
Rare Diseases Clinical Research Network
Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD)
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Study Chair: Arthur Beaudet, MD Baylor College of Medicine

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Responsible Party: University of Florida
ClinicalTrials.gov Identifier: NCT00375089    
Other Study ID Numbers: RDCRN 5202
U54HD061222 ( U.S. NIH Grant/Contract )
ARP 5202 ( Other Identifier: RDCRN )
First Posted: September 12, 2006    Key Record Dates
Last Update Posted: September 22, 2014
Last Verified: September 2014
Keywords provided by University of Florida:
Early-onset Morbid Obesity
Additional relevant MeSH terms:
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Prader-Willi Syndrome
Obesity, Morbid
Pathologic Processes
Nutrition Disorders
Body Weight
Intellectual Disability
Neurobehavioral Manifestations
Neurologic Manifestations
Nervous System Diseases
Abnormalities, Multiple
Congenital Abnormalities
Chromosome Disorders
Genetic Diseases, Inborn