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RM-493-013 Genetic Testing and Phenotypic Characterization of Severely Obese Pediatric and Adult Volunteers


Genetic Testing and Phenotypic Characterization of Severely Obese Pediatric and Adult Volunteers

Principal Investigator


Rhythm Pharmaceuticals

The purpose of this study is to identify people who have a rare genetic cause of obesity. You are being asked to participate in this research study because you indicated that either you or your child was severely overweight at a very young age which may indicate a genetic cause for obesity.
Rhythm is currently conducting this genetic screening study to possibly identify people that may have rare genetic causes of obesity. This screening study will not include any investigational drugs. However, if you are found to have a genetic cause for your obesity, or as new treatments become available, we may re-contact you to inform you of new treatment options or investigational treatments.
The screening test is to identify subjects with one of three genetic variants (a change in the DNA structure) of the POMC, PCSK1 and LepR genes that is currently known to result in obesity.
As the medical community continually learns about new genes or underlying causes of obesity, any remaining DNA sample will be stored for possible future testing for potentially related genes and or other genetics causes of obesity. Your DNA sample would not be studied or 'typed' for any other purposes.
Biospecimens are materials taken from the human body, such as blood or saliva collected or this study, that can be used for research. Biospecimens will be labeled with your identification number and will be stored frozen at the lab where the testing will be performed. Biospecimens will be stored indefinitely.
Once we receive your results, one of our staff members will contact you, to review your results with you.
Depending on your results, you may be eligible to participate in future studies. If you do qualify, it will be your choice whether you want to participate or not, and you will be provided with a study specific (different) informed consent form. By signing this form, you agree to being contacted by Rhythm or Florida Hospital about future studies.