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

Brief description of study

The objective is to identify individuals with severe, early onset morbid obesity (EOMO), who are aged 2 years of age or older, and are suspected to be either homozygous, compound heterozygous or heterozygous for loss of function mutations in the POMC, PCSK1 or LepR gene, leading to a clinical presentation of Melanocortin 4 (MC4) pathway deficiency obesity. Individuals may be contacted for further assessment of clinical features (including questionnaires on past weight and medical history and current hunger and feeding behavior symptoms) and/or participation in future Rhythm clinical trials.

Clinical Study Identifier: s18-00475 Identifier: NCT02849977
Principal Investigator: Mary Patricia Gallagher
Currently Recruiting

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