Early Genetic Identification of Obesity (WEGIO)

Whole Genetic Approach in Early Genetic Identification of Obesity (WEGIO)

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

Study Overview

• Status: Active, not recruiting
• Conditions: Cognitive Impairment; Hyperphagia; Obesity, Childhood; Bardet-Biedl Syndrome; Polydactyly; Retinopathy; Syndactyly; POMC Deficiency
• Intervention / Treatment: Diagnostic test: Genetic testing via blood collection

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

• Study Type: Observational
• Enrollment (Estimated): 1000

Contacts and Locations

Study Locations

• Germany
  • Aachen, Germany, 52074
    • Universitätsklinikum Aachen (RWTH)
  • Augsburg, Germany, 86154
    • KJF Klinik Josefinum
  • Augsburg, Germany, 86156
    • Universitätsklinikum Augsburg - Klinik für Kinder- und Jugendmedizin
  • Bad Krozingen, Germany, 79189
    • Universitätsklinikum Freiburg
  • Bielefeld, Germany, 33604
    • Klinikum Bielefeld Mitte
  • Bonn, Germany, 53127
    • Universitätsklinikum Bonn
  • Bückeburg, Germany, 31675
    • Praxis für Endokrinologie Dr. Daniel Pfaff
  • Cologne, Germany, 50825
    • Cellitinnen-Krankenkaus St. Franziskus
  • Essen, Germany, 45147
    • Universitätsmedizin Essen
  • Frankfurt (Oder), Germany, 15236
    • Klinikum Frankfurt (Oder)
  • Gera, Germany, 07548
    • SRH Wald-Klinikum Gera
  • Greifswald, Germany, 17475
    • Universitätsmedizin Greifswald - Klinik und Poliklinik für Innere Medizin A
  • Gräfelfing, Germany, 82166
    • WolfartKlinik
  • Göttingen, Germany, 37075
    • Universitätsmedizin Göttingen - Klinik für Kinder- und Jugendmedizin
  • Hamburg, Germany, 22149
    • Katholisches Kinderkrankenhaus Wilhelmstift
  • Hanover, Germany, 30173
    • Kinder- und Jugendkrankenhaus Auf der Bult
  • Heidelberg, Germany, 69115
    • Hormonzentrum Heidelberg
  • Iserlohn, Germany, 58636
    • Kinder- und Jugendarztpraxis Nebras Mohammad
  • Jena, Germany, 07747
    • Universitatsklinikum Jena
  • Kiel, Germany, 24105
    • Universitätsklinikum Schleswig-Holstein - Campus Kiel
  • Leipzig, Germany, 04129
    • Sozialpädiatrisches Zentrum Leipzig
  • Mannheim, Germany, 68167
    • Universitätsmedizin Mannheim - Augenklinik
  • Mönchengladbach, Germany, 41239
    • Städtische Kliniken Mönchengladbach - Elisabeth-Krankenhaus Rheydt
  • Nettetal, Germany, 41334
    • Kinder- und Jugendarztpraxis Sulaiman Al Sawaf
  • Neubrandenburg, Germany, 17036
    • Dietrich-Bonhoeffer-Klinikum
  • Obertshausen, Germany, 63179
    • Hausarztpraxis Rahman & Detho
  • Offenbach, Germany, 63069
    • Sana Klinikum Offenbach
  • Pforzheim, Germany, 75172
    • Kinderärzte am Leo
  • Potsdam, Germany, 14467
    • Klinikum Ernst von Bergmann
  • Riesa, Germany, 01589
    • Elblandklinikum Riesa
  • Rüsselsheim am Main, Germany, 65428
    • GPR Klinikum Rüsselsheim
  • Stuttgart, Germany, 70178
    • Kinder- und Jugendpraxis Dogan
  • Suhl, Germany, 98527
    • SRH Zentralklinikum Suhl GmbH
  • Velbert, Germany, 42551
    • Praxis für Kinder- und Jugendmedizin Dr. med. Tabea Tippelt
  • Wesseling, Germany, 50389
    • Dreifaltigkeits-Krankenhaus Wesseling
  • Wiesbaden, Germany, 65185
    • Praxis für Kinder- und Jugendmedizin Seyfullah Gökce
  • Würzburg, Germany, 97080
    • Universitätsklinikum Würzburg - Medizinische Klinik und Poliklinik I

Participation Criteria

Eligibility Criteria

• Ages Eligible for Study: Child; Adult; Older Adult
• Accepts Healthy Volunteers: No

• 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)

Description

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

Study Plan

How is the study designed?

Number of groups / cohorts

1

Cohorts and Interventions

Group / Cohort	Intervention / Treatment
Participants suspected to genetic obesity	Diagnostic test: Genetic testing via blood collection; blood collection

What is the study measuring?

Primary Outcome Measures

Outcome Measure	Measure Description	Time Frame
BBS prevalence	To investigate the prevalence of BBS in patients suspected to a genetic obesity	2 years

Secondary Outcome Measures

Outcome Measure	Measure Description	Time Frame
Phenotypic and genetic characterization	To understand the 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	2 years

Collaborators and Investigators

• Sponsor: Rolfs Consulting und Verwaltungs-GmbH (RCV)
• Collaborators: Rhythm Pharmaceuticals, Inc.
• Investigators: Study Chair: Arndt Rolfs, PhD, MD, Rolfs Consulting und Verwaltungs-GmbH (RCV)

Study record dates

Study Major Dates

• Study Start (Actual): January 24, 2024
• Primary Completion (Estimated): March 1, 2026
• Study Completion (Estimated): March 1, 2027

Study Registration Dates

• First Submitted: January 25, 2024
• First Submitted That Met QC Criteria: January 25, 2024
• First Posted (Actual): February 2, 2024

Study Record Updates

• Last Update Posted (Estimated): September 29, 2025
• Last Update Submitted That Met QC Criteria: September 26, 2025
• Last Verified: February 1, 2025

More Information

Terms related to this study

• Keywords: Genetics; Bardet-Biedl Syndrome; Hyperphagia; PCSK1; LEPR; POMC; Early onset obesity
• Additional Relevant MeSH Terms: Ciliopathies; Bone Diseases; Musculoskeletal Diseases; Brain Diseases; Central Nervous System Diseases; Nervous System Diseases; Mental Disorders; Nutrition Disorders; Genetic Diseases, Inborn; Overnutrition; Body Weight; Signs and Symptoms, Digestive; Neurocognitive Disorders; Eye Diseases; Cognition Disorders; Eye Diseases, Hereditary; Musculoskeletal Abnormalities; Congenital Abnormalities; Abnormalities, Multiple; Overweight; Hypothalamic Diseases; Obesity; Bone Diseases, Developmental; Limb Deformities, Congenital; Retinitis Pigmentosa; Synostosis; Dysostoses; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases; Signs and Symptoms; Retinal Diseases; Cognitive Dysfunction; Pediatric Obesity; Hyperphagia; Syndactyly; Polydactyly; Bardet-Biedl Syndrome; Proopiomelanocortin Deficiency
• Other Study ID Numbers: WEGIO 01-2023

Plan for Individual participant data (IPD)

• Plan to Share Individual Participant Data (IPD)?: NO

Drug and device information, study documents

• Studies a U.S. FDA-regulated drug product: No
• Studies a U.S. FDA-regulated device product: No
• product manufactured in and exported from the U.S.: No