Clinical trial NCT06239064: Early Genetic Identification of Obesity
Official title: Whole Genetic Approach in Early Genetic Identification of Obesity (WEGIO)
Study type: OBSERVATIONAL
Overall status: RECRUITING
Conditions: Obesity, Childhood
Hyperphagia
Retinopathy
Syndactyly
Polydactyly
Cognitive Impairment
Bardet-Biedl Syndrome
POMC Deficiency
Keywords: Early onset obesity
Hyperphagia
Genetics
Bardet-Biedl Syndrome
LEPR
POMC
PCSK1
Lead sponsor: Rolfs Consulting und Verwaltungs-GmbH (RCV)
Sponsor class: NETWORK
Collaborators: name: Rhythm Pharmaceuticals, Inc.
First posted: 2024-02-02
Enrollment: 1000
Sex: ALL
Minimum age (years): 2
Standard ages: CHILD
ADULT
OLDER_ADULT
Observational model: COHORT
Time perspective: PROSPECTIVE
Sampling method: NON_PROBABILITY_SAMPLE
Study population: Participants at risk for a syndromic or a monogenic genetic obesity, incl. participants clinically diagnosed with Bardet-Biedl-Syndrome (BBS)

Brief 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

Detailed 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 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

Primary outcomes:
measure: BBS prevalence
timeFrame: 2 years
Secondary outcomes:
measure: Phenotypic and genetic characterization
timeFrame: 2 years
Other outcomes:
Locations:
city: Aachen
country: Germany
facility: Universitätsklinikum Aachen (RWTH)
city: Augsburg
country: Germany
facility: KJF Klinik Josefinum
city: Augsburg
country: Germany
facility: Universitätsklinikum Augsburg - Klinik für Kinder- und Jugendmedizin
city: Bad Krozingen
country: Germany
facility: Universitätsklinikum Freiburg
city: Bielefeld
country: Germany
facility: Klinikum Bielefeld Mitte
city: Bonn
country: Germany
facility: Universitätsklinikum Bonn
city: Bückeburg
country: Germany
facility: Praxis für Endokrinologie Dr. Daniel Pfaff
city: Essen
country: Germany
facility: Universitätsmedizin Essen
city: Frankfurt (Oder)
country: Germany
facility: Klinikum Frankfurt (Oder)
city: Gera
country: Germany
facility: SRH Wald-Klinikum Gera
city: Greifswald
country: Germany
facility: Universitätsmedizin Greifswald - Klinik und Poliklinik für Innere Medizin A
city: Gräfelfing
country: Germany
facility: WolfartKlinik
city: Göttingen
country: Germany
facility: Universitätsmedizin Göttingen - Klinik für Kinder- und Jugendmedizin
city: Hamburg
country: Germany
facility: Katholisches Kinderkrankenhaus WILHELMSTIFT
city: Hannover
country: Germany
facility: Kinder- und Jugendkrankenhaus Auf der Bult
city: Heidelberg
country: Germany
facility: Hormonzentrum Heidelberg
city: Iserlohn
country: Germany
facility: Kinder- und Jugendarztpraxis Nebras Mohammad
city: Jena
country: Germany
facility: Universitätsklinikum Jena
city: Kiel
country: Germany
facility: Universitätsklinikum Schleswig-Holstein - Campus Kiel
city: Köln
country: Germany
facility: Cellitinnen-Krankenkaus St. Franziskus
city: Leipzig
country: Germany
facility: Sozialpädiatrisches Zentrum Leipzig
city: Mannheim
country: Germany
facility: Universitätsmedizin Mannheim - Augenklinik
city: Mönchengladbach
country: Germany
facility: Städtische Kliniken Mönchengladbach - Elisabeth-Krankenhaus Rheydt
city: Nettetal
country: Germany
facility: Kinder- und Jugendarztpraxis Sulaiman Al Sawaf
city: Neubrandenburg
country: Germany
facility: Dietrich-Bonhoeffer-Klinikum
city: Obertshausen
country: Germany
facility: Hausarztpraxis Rahman & Detho
city: Offenbach am Main
country: Germany
facility: Sana Klinikum Offenbach
city: Pforzheim
country: Germany
facility: Kinderärzte am Leo
city: Potsdam
country: Germany
facility: Klinikum Ernst von Bergmann
city: Riesa
country: Germany
facility: Elblandklinikum Riesa
city: Rüsselsheim
country: Germany
facility: GPR Klinikum Rüsselsheim
city: Stuttgart
country: Germany
facility: Kinder- und Jugendpraxis Dogan
city: Suhl
country: Germany
facility: SRH Zentralklinikum Suhl GmbH
city: Velbert
country: Germany
facility: Praxis für Kinder- und Jugendmedizin Dr. med. Tabea Tippelt
city: Wesseling
country: Germany
facility: Dreifaltigkeits-Krankenhaus Wesseling
city: Wiesbaden
country: Germany
facility: Praxis für Kinder- und Jugendmedizin Seyfullah Gökce
city: Würzburg
country: Germany
facility: Universitätsklinikum Würzburg - Medizinische Klinik und Poliklinik I
Study officials:
affiliation: Rolfs Consulting und Verwaltungs-GmbH (RCV)
name: Arndt Rolfs, PhD, MD
role: STUDY_CHAIR
References: