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

NCT00375089 | Completed DMC

• 3 other identifiers: RDCRN 5202U54HD061222ARP 5202
• Study Type: observational
• Target: 392
• Locations: 1 country
• Sites: 4

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.

Conditions

Prader-Willi Syndrome; Obesity

Keywords

Early-onset Morbid Obesity

Outcome Measures

Primary Outcomes (1)

• Phenotypic assessments of participants

  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.

  until end of study

Secondary Outcomes (1)

• longitudinal pattern of progression

  until end of study

Study Arms (2)

Group 1

Individuals with Prader-Willi syndrome.

Other: Group 1

Group 2

Individuals with Early-onset Morbid Obesity

Other: Group 2

Interventions

Group 1 OTHER

Individuals with Prader-Willi syndrome. Monitoring every 6 months.

Also known as: Prader-Willi syndrome, PWS

Group 1

Group 2 OTHER

Individuals with Early-onset Morbid Obesity.

Also known as: PWS

Group 2

Eligibility Criteria

• Age: Up to 60 Years
• Sex: all
• Healthy Volunteers: No
• Age Groups: Child (0-17), Adult (18-64)
• Sampling Method: Non-Probability Sample

Study Population

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

You may qualify if:

• 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.

You may not qualify if:

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

Sponsors & Collaborators

• University of Florida: lead
• Office of Rare Diseases (ORD): collaborator
• Rare Diseases Clinical Research Network: collaborator
• Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD): collaborator

Study Sites (4)

University of California at Irvine

Orange, California, 92868, United States

Location

University of Florida

Gainesville, Florida, 32610-0296, United States

Location

Kansas University Medical Center

Kansas City, Kansas, 66160, United States

Location

Vanderbilt University Medical Center

Nashville, Tennessee, 37201, United States

Location

Related Publications (11)

• Miller J, Kranzler J, Liu Y, Schmalfuss I, Theriaque DW, Shuster JJ, Hatfield A, Mueller OT, Goldstone AP, Sahoo T, Beaudet AL, Driscoll DJ. Neurocognitive findings in Prader-Willi syndrome and early-onset morbid obesity. J Pediatr. 2006 Aug;149(2):192-8. doi: 10.1016/j.jpeds.2006.04.013.

  PMID: 16887432 BACKGROUND

• Miller JL, Couch JA, Schmalfuss I, He G, Liu Y, Driscoll DJ. Intracranial abnormalities detected by three-dimensional magnetic resonance imaging in Prader-Willi syndrome. Am J Med Genet A. 2007 Mar 1;143A(5):476-83. doi: 10.1002/ajmg.a.31508.

  PMID: 17103438 BACKGROUND

• Butler MG. Management of obesity in Prader-Willi syndrome. Nat Clin Pract Endocrinol Metab. 2006 Nov;2(11):592-3. doi: 10.1038/ncpendmet0320. No abstract available.

  PMID: 17082801 BACKGROUND

• Butler MG, Bittel DC, Kibiryeva N, Talebizadeh Z, Thompson T. Behavioral differences among subjects with Prader-Willi syndrome and type I or type II deletion and maternal disomy. Pediatrics. 2004 Mar;113(3 Pt 1):565-73. doi: 10.1542/peds.113.3.565.

  PMID: 14993551 BACKGROUND

• Dykens E, Shah B. Psychiatric disorders in Prader-Willi syndrome: epidemiology and management. CNS Drugs. 2003;17(3):167-78. doi: 10.2165/00023210-200317030-00003.

  PMID: 12617696 BACKGROUND

• Goldstone AP. Prader-Willi syndrome: advances in genetics, pathophysiology and treatment. Trends Endocrinol Metab. 2004 Jan-Feb;15(1):12-20. doi: 10.1016/j.tem.2003.11.003.

  PMID: 14693421 BACKGROUND

• Miller J, Silverstein J, Shuster J, Driscoll DJ, Wagner M. Short-term effects of growth hormone on sleep abnormalities in Prader-Willi syndrome. J Clin Endocrinol Metab. 2006 Feb;91(2):413-7. doi: 10.1210/jc.2005-1279. Epub 2005 Nov 29.

  PMID: 16317059 BACKGROUND

• Shapira NA, Lessig MC, He AG, James GA, Driscoll DJ, Liu Y. Satiety dysfunction in Prader-Willi syndrome demonstrated by fMRI. J Neurol Neurosurg Psychiatry. 2005 Feb;76(2):260-2. doi: 10.1136/jnnp.2004.039024.

  PMID: 15654046 BACKGROUND

• Bittel DC, Butler MG. Prader-Willi syndrome: clinical genetics, cytogenetics and molecular biology. Expert Rev Mol Med. 2005 Jul 25;7(14):1-20. doi: 10.1017/S1462399405009531.

  PMID: 16038620 BACKGROUND

• Holsen LM, Zarcone JR, Brooks WM, Butler MG, Thompson TI, Ahluwalia JS, Nollen NL, Savage CR. Neural mechanisms underlying hyperphagia in Prader-Willi syndrome. Obesity (Silver Spring). 2006 Jun;14(6):1028-37. doi: 10.1038/oby.2006.118.

  PMID: 16861608 BACKGROUND

• Cassidy SB, Driscoll DJ. Prader-Willi syndrome. Eur J Hum Genet. 2009 Jan;17(1):3-13. doi: 10.1038/ejhg.2008.165. Epub 2008 Sep 10.

  PMID: 18781185 BACKGROUND

Biospecimen

Retention: SAMPLES WITH DNA

Blood samples for both DNA and RNA

MeSH Terms

Conditions

Prader-Willi Syndrome; Obesity

Condition Hierarchy (Ancestors)

Intellectual Disability; Neurobehavioral Manifestations; Neurologic Manifestations; Nervous System Diseases; Abnormalities, Multiple; Congenital Abnormalities; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Chromosome Disorders; Genetic Diseases, Inborn; Imprinting Disorders; Overweight; Overnutrition; Nutrition Disorders; Nutritional and Metabolic Diseases; Body Weight; Signs and Symptoms; Pathological Conditions, Signs and Symptoms

Study Officials

• Arthur Beaudet, MD

  Baylor College of Medicine

  STUDY CHAIR

Study Design

• Study Type: observational
• Observational Model: COHORT
• Time Perspective: PROSPECTIVE
• Sponsor Type: OTHER
• Responsible Party: SPONSOR

Study Record Dates

• First Submitted: September 11, 2006
• First Posted: September 12, 2006
• Study Start: September 1, 2006
• Primary Completion: January 1, 2014
• Study Completion: January 1, 2014
• Last Updated: September 22, 2014

Record last verified: 2014-09

Locations

US (4)