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

This study has been completed.
Sponsor:
Collaborators:
Rare Diseases Clinical Research Network
Information provided by (Responsible Party):
University of Florida
ClinicalTrials.gov Identifier:
NCT00375089
First received: September 11, 2006
Last updated: September 18, 2014
Last verified: September 2014
  Purpose

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 Intervention
Prader-Willi Syndrome
Obesity
Other: Group 1
Other: Group 2

Study Type: Observational
Study Design: Observational Model: Cohort
Time Perspective: Prospective
Official Title: Prader-Willi Syndrome and Early-onset Morbid Obesity Natural History Clinical Protocol

Resource links provided by NLM:


Further study details as provided by University of Florida:

Primary Outcome Measures:
  • 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.


Secondary Outcome Measures:
  • 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


Enrollment: 392
Study Start Date: September 2006
Study Completion Date: January 2014
Primary Completion Date: January 2014 (Final data collection date for primary outcome measure)
Groups/Cohorts Assigned Interventions
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

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.

  Eligibility

Ages Eligible for Study:   up to 60 Years
Genders Eligible for Study:   Both
Accepts Healthy Volunteers:   No
Sampling Method:   Non-Probability Sample
Study Population

Individuals with Prader-Willi syndrome and Early-onset Morbid Obesity

Criteria

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
  Contacts and Locations
Choosing to participate in a study is an important personal decision. Talk with your doctor and family members or friends about deciding to join a study. To learn more about this study, you or your doctor may contact the study research staff using the Contacts provided below. For general information, see Learn About Clinical Studies.

Please refer to this study by its ClinicalTrials.gov identifier: NCT00375089

Locations
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
Rare Diseases Clinical Research Network
Investigators
Study Chair: Arthur Beaudet, MD Baylor College of Medicine
  More Information

Publications:

Responsible Party: University of Florida
ClinicalTrials.gov Identifier: NCT00375089     History of Changes
Other Study ID Numbers: RDCRN 5202, U54HD061222, ARP 5202
Study First Received: September 11, 2006
Last Updated: September 18, 2014
Health Authority: United States: Federal Government

Keywords provided by University of Florida:
Early-onset Morbid Obesity

Additional relevant MeSH terms:
Obesity
Obesity, Morbid
Prader-Willi Syndrome
Syndrome
Abnormalities, Multiple
Body Weight
Chromosome Disorders
Congenital Abnormalities
Disease
Genetic Diseases, Inborn
Intellectual Disability
Nervous System Diseases
Neurobehavioral Manifestations
Neurologic Manifestations
Nutrition Disorders
Overnutrition
Overweight
Pathologic Processes
Signs and Symptoms

ClinicalTrials.gov processed this record on October 20, 2014