Brain-Derived Neurotrophic Factor in Obesity and Brain Function (NCT01517048) | Clinical Trial Compass
CompletedNot Applicable
Brain-Derived Neurotrophic Factor in Obesity and Brain Function
United States, Canada93 participantsStarted 2012-01-09
Plain-language summary
Background:
\- Prader-Willi syndrome (PWS) and MC4R genetic mutations are two conditions that can cause problems with appetite regulation. People with PWS often have behavior and thinking problems. People with MC4R mutations may have problems with attention. These problems may be related to Brain-Derived Neurotrophic Factor (BDNF), a protein that is important for brain development. Researchers want to study people with PWS and MC4R mutations to see how BDNF is involved in these conditions. Specifically, body weight and brain function will be studied, and compared with healthy volunteers.
Objectives:
\- To study how BDNF affects body weight and brain function in people with PWS and MC4R mutations.
Eligibility:
* Individuals of any age who have Prader-Willi syndrome or MC4R genetic mutations.
* Healthy volunteers of any age to act as control participants.
Design:
* Participants will be screened with a medical history and physical exam. Height, weight, and waist/hip circumferences will be measured. Blood samples will be taken for genetic and other tests.
* Participants will fill out questionnaires about eating habits, pain perception, and sleep behavior.
* Participants will keep a 3-day food diary to record all food and drinks eaten.
* Tests and questionnaires will be given to study thinking, speech, movement, behavior, and mood. Some tests will be done on a computer; other tests will be on paper. Tests may also involve performing tasks with blocks and other objects.
* Participants may have other tests as directed. These will include hot and cold sensitivity tests, imaging studies like x-rays, and measurements of body fat and water content.
* Treatment will not be provided as part of this study.
Who can participate
Age range99 Years
SexALL
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Inclusion criteria
✓. For PWS subjects: We will enroll 75 subjects of all ages who have diagnosis of PWS confirmed by chromosome analysis (i.e. interstitial deletion of paternally-derived chromosome 15q, uniparental maternal disomy or other chromosome 15 abnormalities). Our goal is to have 25 infants, 25 non-obese, and 25 obese subjects in order to assess the different phases associated with PWS. Subjects receiving growth hormone therapy may enroll if the dose has been stable for the preceding 6 months.
✓. For MC4R subjects: We will screen up to 200 subjects for mutations of MC4R and enroll 50 subjects of all ages who have diagnosis of homozygous or heterozygous MC4R mutation confirmed by sequencing of the MC4R gene. Both functional-altering (N=25) and non-pathologic (N=25) mutations will be included.
✓. For control subjects: We will enroll 125 subjects of all ages who match with PWS or MC4R subjects by age (plus-minus 10%), sex, race, and BMI percentile (plus-minus10%).
Exclusion criteria
✕. For all subjects:
✕. Pregnancy
✕. Individuals who have, or whose parent or guardians have, current substance abuse or a psychiatric disorder or other condition which, in the opinion of the investigators, would impede competence or compliance or possibly hinder completion of the study