Early Genetic Identification of Obesity

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