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

This study is currently recruiting participants. (see Contacts and Locations)
Verified February 2014 by University of Florida
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: February 12, 2014
Last verified: February 2014

September 11, 2006
February 12, 2014
September 2006
July 2014   (final data collection date for primary outcome measure)
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.
Not Provided
Complete list of historical versions of study NCT00375089 on ClinicalTrials.gov Archive Site
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.
Not Provided
Not Provided
Not Provided
 
Characteristics of Prader-Willi Syndrome and Early-onset Morbid Obesity
Prader-Willi Syndrome and Early-onset Morbid Obesity Natural History Clinical Protocol

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.

Observational
Observational Model: Cohort
Time Perspective: Prospective
Not Provided
Retention:   Samples With DNA
Description:

Blood samples for both DNA and RNA

Non-Probability Sample

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

  • Prader-Willi Syndrome
  • Obesity
  • Other: Group 1
    Individuals with Prader-Willi syndrome. Monitoring every 6 months.
    Other Names:
    • Prader-Willi syndrome
    • PWS
  • Other: Group 2
    Individuals with Early-onset Morbid Obesity.
    Other Name: PWS
  • Group 1
    Individuals with Prader-Willi syndrome.
    Intervention: Other: Group 1
  • Group 2
    Individuals with Early-onset Morbid Obesity
    Intervention: Other: Group 2

*   Includes publications given by the data provider as well as publications identified by ClinicalTrials.gov Identifier (NCT Number) in Medline.
 
Recruiting
400
July 2014
July 2014   (final data collection date for primary outcome measure)

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
Both
up to 60 Years
No
United States
 
NCT00375089
RDCRN 5202, U54HD061222, ARP 5202
Yes
University of Florida
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)
Study Chair: Arthur Beaudet, MD Baylor College of Medicine
University of Florida
February 2014

ICMJE     Data element required by the International Committee of Medical Journal Editors and the World Health Organization ICTRP