Prader-Willi SyndromeNCT00375089
Characteristics of Prader-Willi Syndrome and Early-onset Morbid Obesity
An observational study of Prader-Willi Syndrome and Obesity, run by University of Florida at 4 sites in United States.
Trial 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. Read more about this study
- Who is it for?
- Ages Up to 60 years
- Conditions the study is for
- Prader-Willi Syndrome, Obesity
- What is being tested?
- Group 1 and Group 2
- How many people
- 392 participants
- Where
- 4 sitesUnited States
- Study dates
- Sep 2006to Jan 2014
- Phase
- Observational
- Are there results?
- None posted in the registry
Key requirements
Who can take part, as listed by the sponsor. Only the study team can confirm whether you are eligible, so take this list to your doctor.
- Ages Up to 60 years
- All sexes
- No healthy volunteers
- Child, Adult
Study population: Individuals with Prader-Willi syndrome and Early-onset Morbid Obesity
Who may be able to join
- 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.
Who cannot join
- Known genetic, chromosomal, or hormonal cause of cognitive impairment other than Prader-Willi syndrome
Trial locations and contacts
4 sites in 1 country.
United States4 sites
University of Florida
Gainesville, Florida, 32610-0296
Kansas University Medical Center
Kansas City, Kansas, 66160
Vanderbilt University Medical Center
Nashville, Tennessee, 37201
University of California at Irvine
Orange, California, 92868
About this study
Official title: 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.
Read the 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.
- Conditions
- Prader-Willi Syndrome, Obesity
- Being tested
- Group 1, Group 2
- Keywords
- Early-onset Morbid Obesity
- Medical subject headings
- Prader-Willi Syndrome, Obesity
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
Group 1Other
Also called Prader-Willi syndrome, PWS
Individuals with Prader-Willi syndrome. Monitoring every 6 months.
Group 2Other
Also called PWS
Individuals with Early-onset Morbid Obesity.
| Study group | Role | What they receive |
|---|---|---|
| Group 1 | Individuals with Prader-Willi syndrome. Receives: Other: Group 1 | |
| Group 2 | Individuals with Early-onset Morbid Obesity Receives: Other: Group 2 |
What is being measured
The primary outcome is the main question the study is designed to answer.
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.
Measured: until end of study
Secondary outcomes (1)
longitudinal pattern of progression
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.
Measured: until end of study
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted12 Sep 2006 (estimated)
- Study startSep 2006
- Primary completionJan 2014
- Study completionJan 2014
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Publications (11)Papers the sponsor has linked to this study.
- Other trials for Prader-Willi SyndromeStudies of the same condition, open and under way.
- More trials run by University of FloridaThe sponsor's other registered studies.
- What the trial phases meanHow a treatment moves from first tests in people to approval.
More details
For doctors and researchers: how the study is designed, who runs it, and its registry IDs.
Study design
- Study type
- Observational
- Observational model
- Cohort
- Time perspective
- Prospective
- Enrolment
- 392 participants (actual)
Sponsor and investigators
- Lead sponsor
- University of Florida
- Sponsor type
- University, hospital or other
- Collaborators
- Office of Rare Diseases (ORD), Rare Diseases Clinical Research Network, Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD)
- Responsible party
- Sponsor
- Investigators
- Arthur Beaudet, MD, Study chair, Baylor College of Medicine
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT00375089
- Sponsor's protocol ID
- RDCRN 5202
- Other IDs
- U54HD061222, ARP 5202
- Status last verified
- Sep 2014
- First submitted
- 11 Sep 2006
- Last updated
- 22 Sep 2014
- Results posted
- No
- Data monitoring committee
- Yes
Publications
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.
PubMed 16887432Miller 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.
PubMed 17103438Butler 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.
PubMed 17082801Butler 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.
PubMed 14993551Dykens 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.
PubMed 12617696Goldstone 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.
PubMed 14693421Miller 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.
PubMed 16317059Shapira 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.
PubMed 15654046Bittel 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.
PubMed 16038620Holsen 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.
PubMed 16861608Cassidy 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.
PubMed 18781185
Study at a glance
From the registry record, last updated by the sponsor on 22 Sep 2014. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Prader-Willi Syndrome and Early-onset Morbid Obesity Natural History Clinical Protocol
- ClinicalTrials.gov ID
- NCT00375089
- Acronym / sponsor ID
- RDCRN 5202
- Conditions
- Prader-Willi Syndrome, Obesity
- Keywords
- Early-onset Morbid Obesity
- Study type
- Observational
- Recruitment status
- Completed
- Enrolment
- 392 participants (actual)
- Lead sponsor
- University of FloridaUniversity, hospital or other
- Collaborators
- Office of Rare Diseases (ORD), Rare Diseases Clinical Research Network, Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD)
- Study start
- Sep 2006
- Primary completion
- Jan 2014 (actual)
- Study completion
- Jan 2014 (actual)
- First posted
- 12 Sep 2006 (estimated)
- Results
- Not posted in the source record
Clinical summary
The research question as the sponsor registered it. This describes what the study plans to test, not what it found.
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.
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
- Observational model
- Cohort
- Time perspective
- Prospective
- Number of arms
- 2
| Arm | Type | Receives |
|---|---|---|
| Group 1 | – | Other: Group 1Individuals with Prader-Willi syndrome. |
| Group 2 | – | Other: Group 2Individuals with Early-onset Morbid Obesity |
Who may qualify
- Ages
- Up to 60 years
- Sex
- All
- Healthy volunteers
- Not accepted
- Age groups
- Child, Adult
- Study population
- Individuals with Prader-Willi syndrome and Early-onset Morbid Obesity
Key inclusion criteria (2 listed)
- 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.
Key exclusion criteria (1 listed)
- Known genetic, chromosomal, or hormonal cause of cognitive impairment other than Prader-Willi syndrome
Eligibility is decided by the study team after screening; this overview does not establish that a patient qualifies. Full inclusion and exclusion criteria.
Interventions
| Intervention | Type | Arms |
|---|---|---|
| Group 1Also: Prader-Willi syndrome, PWSIndividuals with Prader-Willi syndrome. Monitoring every 6 months. | Other | Group 1 |
| Group 2Also: PWSIndividuals with Early-onset Morbid Obesity. | Other | Group 2 |
Primary outcome
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.
1 secondary outcome
longitudinal pattern of progression
Time frame: until end of study
Results and safety
The study is completed, but results are not available in the source record. That does not mean the treatment did or did not work.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 22 Sep 2014.
- Background: PubMed 16887432Miller 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.
- Background: PubMed 17103438Miller 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.
- Background: PubMed 17082801Butler 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.
- Background: PubMed 14993551Butler 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.
- Background: PubMed 12617696Dykens 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.
- Background: PubMed 14693421Goldstone 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.
- Background: PubMed 16317059Miller 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.
- Background: PubMed 15654046Shapira 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.
- Background: PubMed 16038620Bittel 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.
- Background: PubMed 16861608Holsen 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.
- Background: PubMed 18781185Cassidy 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.
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Referral and contact
AzTrials does not enrol participants or take referrals. Contact the study team or a site listed below; they decide who can take part. This study is not recruiting at the moment.
Arthur Beaudet, MD study chair
Baylor College of Medicine
4 sites in 1 country: see every site and its status.
Questions about this trial
What is this clinical trial studying?
An observational study of Prader-Willi Syndrome and Obesity, run by University of Florida at 4 sites in United States.
The full registered description is in the About this study section and the official record.
Who may be eligible to take part?
The sponsor lists 2 inclusion and 1 exclusion criteria. Eligibility is decided by the study team after screening, so read the full criteria and contact a listed site.
Is this clinical trial currently recruiting?
The record says: finished, as of the sponsor's last update on 22 Sep 2014. Status can change between updates, so confirm with the study contact before making plans.
Where is the study taking place?
The record lists 4 sites in United States. Whether a site is taking part right now should be confirmed with that site. See every site.
What are the possible benefits and risks?
They depend on the study and the treatment, and no study can promise a benefit. The study team explains the known risks during informed consent, before anyone joins; the record itself does not list them.
Are results available for this study?
The study is completed, but results are not available in the source record. That does not mean the treatment did or did not work.
How can a doctor refer a patient or contact the research team?
The record lists no contact. The official record names the sponsor, who can be asked directly. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
Phenotypic assessments of participants (time frame: until end of study). It is what the study was designed to measure, not a finding.
Where can I read the original study information?
On the ClinicalTrials.gov record for NCT00375089, which also lists 11 linked publications.
Does a listing mean the treatment is approved or proven to work?
No. A listing means the study is registered. It does not show that the treatment is safe, works, or is approved by a regulator.
How often is this information updated?
AzTrials copies changed records from ClinicalTrials.gov every night and reloads the whole registry every week. The sponsor last updated this record on 22 Sep 2014.