Clinical trial NCT04024631: Phenotyping Genetic Risk for Type 2 Diabetes
Official title: Phenotyping Children and Adults With Possible High or Low Genetic Risk for Type 2 Diabetes
Study type: INTERVENTIONAL
Overall status: RECRUITING
Phase: NA
Conditions: Diabetes Mellitus, Type 2
Genetics
Keywords: polygenic risk for type 2 diabetes
Lead sponsor: University of Pennsylvania
Sponsor class: OTHER
First posted: 2019-07-18
Enrollment: 100
Sex: ALL
Minimum age (years): 10
Maximum age (years): 70
Standard ages: CHILD
ADULT
OLDER_ADULT
Accepts healthy volunteers: yes
Allocation: NA
Intervention model: SINGLE_GROUP
Intervention model description: cross sectional
Primary purpose: OTHER

Brief summary: This study tests the hypothesis that non-diabetic individuals with a high genetic risk score for type 2 diabetes have impaired glucose tolerance and insulin resistance compared to those with a low genetic risk score for type 2 diabetes.

Detailed description: The study team will recruit individuals based on genetic risk score for type 2 diabetes from the biobank populations who have agreed to be recontacted for future research. Each participant will undergo a frequently sampled four-hour oral glucose tolerance test and whole body DXA scan (dual-energy X-ray absorptiometry) in addition to baseline laboratory and history assessment.

Eligibility criteria: Inclusion Criteria:

* Age 10-70 years
* Prior participant of the UPenn Biobank or Center for Applied Genomics Biobank and agreed to be recontacted for future research.
* Adults with BMI 25kg/m2 or higher, children and adolescents with BMI 85th percentile or higher

Exclusion Criteria:

* prior diagnosis of type 1, type 2, or secondary diabetes
* use of medications that would impact glucose and insulin response such as steroids, metformin or other anti-diabetic medication
* acute illness that may impact insulin and glucose dynamics
* pregnancy
* hypothalamic obesity or related genetic disorder of metabolism
* recent systemic chemotherapy use
* gastrointestinal impairment or surgery that may impact absorption
* anemia
* major organ system illness or any underlying condition requiring regular medication or treatment that could make implementation of the protocol or interpretation of the study results difficult
* inability to comply with study protocol

Primary outcomes:
measure: Glucose response to an oral glucose load
timeFrame: samples will be collected over four hours and these results will be used to calculate area under the curve
Secondary outcomes:
measure: Visceral adiposity index
timeFrame: DXA scan will be obtained on the same day as the oral glucose test and will be completed in less than 30 minutes
measure: HOMA-IR
timeFrame: calculated from baseline fasting insulin and glucose levels
measure: Disposition index
timeFrame: samples will be collected over four hours after the 75g glucose beverage and these results will be used for mixed modeling
Other outcomes:
Locations:
city: Philadelphia
country: United States
facility: Childrens Hospital of Philadelphia
state: Pennsylvania
city: Philadelphia
country: United States
facility: University of Pennsylvania
state: Pennsylvania
Study officials:
affiliation: University of Pennsylvania
name: Jessica R Wilson, MD, MS
role: PRINCIPAL_INVESTIGATOR
affiliation: Children's Hospital of Philadelphia
name: Lorraine Levitt Katz, MD
role: PRINCIPAL_INVESTIGATOR
References: