Characteristics of Prader-Willi Syndrome and Early-onset Morbid Obesity
| Status: | Completed |
|---|---|
| Conditions: | Obesity Weight Loss, Women's Studies |
| Therapuetic Areas: | Endocrinology, Reproductive |
| Healthy: | No |
| Age Range: | Any - 60 |
| Updated: | 11/8/2014 |
| Start Date: | September 2006 |
| End Date: | July 2014 |
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.
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.
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.
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
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4
sites
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University of Florida The University of Florida (UF) is a major, public, comprehensive, land-grant, research...
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1211 Medical Center Dr
Nashville, Tennessee 37232
Nashville, Tennessee 37232
(615) 322-5000
Vanderbilt Univ Med Ctr Vanderbilt University Medical Center (VUMC) is a comprehensive healthcare facility dedicated...
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