Genetic Obesity
Conditions
Keywords
genetic obesity, patient registry, monogenic obesity, natural history
Brief summary
Genetic obesity results from changes in specific genes that affect appetite regulation, metabolism, and fat storage. Its severity and associated health issues vary depending on the genetic cause. In some cases, hormonal imbalances, developmental delays, or other complications may also occur. Identifying the genetic cause is essential for personalized treatment and understanding potential symptoms. As genetic obesity is rare, specialists often encounter few patients with diverse genetic backgrounds and clinical features. Therefore, collecting global data is crucial to improve our understanding of the condition's progression, complications, and treatment responses for each genetic subtype. To support this, the International Genetic Obesity Registry (iGO Registry) has been established to gather detailed patient information on genetic obesity. This registry will help advance research and improve clinical care for affected individuals. It will collect data from routine outpatient visits, focusing on relevant diagnostic and treatment information on an international level.
Interventions
None listed
Sponsors
University of Ulm
Study design
Observational model
COHORT
Time perspective
PROSPECTIVE
Eligibility
Sex/Gender
ALL
Healthy volunteers
No
Inclusion criteria
* Patients with * genetically confirmed genetic obesity (ACMG classification 3-5, associated with obesity) and/or * early onset severe obesity (BMI ≥ 120% 95th percentile or ≥ 35 kg/m2 before 5 years of age) if genetic testing was performed * Capable of understanding the aims of the protocol and to provide informed consent (for children and chronically incapacitated individuals, consent is given by their legal guardians)
Exclusion criteria
* Not capable of understanding the aims of the protocol and to provide informed consent
Design outcomes
Primary
| Measure | Time frame | Description |
|---|---|---|
| Change of somatic comorbidities under standard treatment | every 5 years for 50 years | Number of participants with abnormal physical examination findings under standard treatment. Physical examinations include: Body weight \[kg\], body height \[cm\], blood pressure \[mmHg\], heart rate \[bpm\]. |
Secondary
| Measure | Time frame | Description |
|---|---|---|
| genotype-phenotype correlation | every 5 years for 50 years | molecular genetic results will be compared to results from standardized physical examination, laboratory and instrument based tests |
| Age at onset for comorbidities | every 5 years for 50 years | comorbidities will be assessed via standard physical examination, laboratory and instrument based tests |
| Age at death | at year 20 after study start | patients are followed regulary, age at death (years) will be documented |
Countries
Germany
Contacts
Primary ContactJulia von Schnurbein, PD Dr.
Outcome results
None listed