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

Sponsor

University of Florida (Other)

Overall Status

Completed

CT.gov ID

NCT00375089

Collaborator

Office of Rare Diseases (ORD) (NIH), Rare Diseases Clinical Research Network (Other), Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD) (NIH)

392

Enrollment

Locations

Duration (Months)

Patients Per Site

1.1

Patients Per Site Per Month

Study Details

Study Description

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	Phase
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.

Study Design

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 :

Sep 1, 2006

Actual Primary Completion Date :

Jan 1, 2014

Actual Study Completion Date :

Jan 1, 2014

Arms and Interventions

Arm	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 Names: PWS

Arm

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 Names:

PWS

Outcome Measures

Primary Outcome Measures

Phenotypic assessments of participants [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

longitudinal pattern of progression [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.

Eligibility Criteria

Criteria

Ages Eligible for Study:

N/A to 60 Years

Sexes Eligible for Study:

All

Accepts Healthy Volunteers:

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

Locations

	Site	City	State	Country	Postal Code
1	University of California at Irvine	Orange	California	United States	92868
2	University of Florida	Gainesville	Florida	United States	32610-0296
3	Kansas University Medical Center	Kansas City	Kansas	United States	66160
4	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)