Overview
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
Description
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
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