Early Genetic Identification of Obesity

Bardet-Biedl Syndrome, Cognitive Impairment, Hyperphagia, Obesity, Childhood, Polydactyly, POMC Deficiency, Retinopathy, Syndactyly

Early onset obesity, Hyperphagia, Genetics, Bardet-Biedl Syndrome, LEPR, POMC, PCSK1

TITLE: Whole genetic approach in Early Genetic Identification of Obesity (WEGIO) DESIGN: Multicenter epidemiological study STUDY POPULATION: Participants at risk for a syndromic or a monogenic genetic obesity, incl. participants clinically diagnosed with Bardet-Biedl-Syndrome (BBS) NUMBER OF PARTICIPANTS: 1000 for initial genetic sequencing and app. 40 for the follow-up documentation COORDINATING INVESTIGATOR: Prof. Dr. Arndt Rolfs

TITLE: Whole genetic approach in Early Genetic Identification of Obesity (WEGIO) DESIGN: Multicenter epidemiological study STUDY POPULATION: Participants at risk for a syndromic or a monogenic genetic obesity, incl. participants clinically diagnosed with Bardet-Biedl-Syndrome (BBS) NUMBER OF PARTICIPANTS: 1000 for initial genetic sequencing and app. 40 for the follow-up documentation COORDINATING INVESTIGATOR: Prof. Dr. Arndt Rolfs PARTICIPATING COUNTRY: Germany TREATMENT: Not applicable PRIMARY OBJECTIVE: To investigate the prevalence of BBS in an at-risk population SECONDARY OBJECTIVES: * To explore genotype-phenotype correlation * To assess genotypes distribution in Germany and compare to other countries * To identify new genes/variants * To investigate clinical characteristics in individuals diagnosed with BBS DURATION OF RECRUITMENT: 32 months - total 24 months the recruitment of 1000 subjects 27 months follow up visits 32 months close out of sites INCLUSION CRITERIA: * Informed consent is obtained from the participant/parent/legal guardian * The participant is 2 years of age or older For a participant between 2 and 18 years of age: * The participant has and had a body weight more than 97th percentile before the age of 6 * The participant has one or more of the following symptoms: rod/cone dystrophy, renal abnormalities, ataxia, syndactyly, polydactyly, brachydactyly, hyperphagia, cognitive impairment, speech delay, hypogonadism For a participant who is 18 years of age or older: * The participant has BMI ≥ 30 kg/m2 * The participant had a body weight more than 97th percentile before the age of 6 years * The participant has rod/cone dystrophy * The participant is 2 or more years of age, is clinically diagnosed with Bardet-Biedl-Syndrome (BBS) or is a sibling of an individual diagnosed with BBS via the WEGIO study

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