early genetic identification of obesity

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

Summary: 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

Eligibility criteria:
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 exclusion criteria: - not fulfilling the inclusion criteria

Keywords: early onset obesity hyperphagia genetics bardet-biedl syndrome lepr pomc pcsk1