The Influence of Genetic Variations in ELAPOR1 or ELAPOR2 on Insulin Secretion and Glucose Regulation in Humans

NCT05575206 | Unknown

• 1 other identifier: INCEPTOR
• Study Type: observational
• Target: 20
• Locations: 1 country
• Sites: 1

Brief Summary

Insulin resistance and the depletion of insulin secretion are major pathogenetic aspects of type 2 diabetes mellitus. Recently, inceptor, a receptor on the surface of beta cells was dicovered. Inceptor promotes beta cell resistance to insulin and IGF-1. In humans, the inceptor is encoded by the two genes ELAPOR1 and ELAPOR2. Whether functional mutations in these genes affect insulin secretion and glucose regulation in humans has not been investigated so far. In this study we investigate the influence of genetic variations in ELAPOR1 or ELAPOR2 on insulin secretion and glucose regulation in humans by hygerglycemic glucose clamp technique and oral glucose tolerance test respectively.

Conditions

Type 2 Diabetes; Impaired Insulin Secretion

Outcome Measures

Primary Outcomes (1)

• Insulin secretion capacity

  Glucose stimulated insulin secretion adjusted for insulin sensitivity during an hyperglycemic clamp in subjects with genetic variants in ELAPOR1 and ELAPOR2 compared to a control cohort without genetic variants.

  -15 minutes - 130 minutes

Secondary Outcomes (1)

• Glucose tolerance status

  0-120 minutes

Study Arms (1)

Patients with rare genetic variant in ELAPOR1 or ELAPOR2

Patients undergo several examinations. Beside anthropometric measurements, bioelectrical impedance analysis, an 2h-oral glucose tolerance test (OGTT) and a hyperglycemic clamp is performed.

Eligibility Criteria

• Age: 18 Years - 75 Years
• Sex: all
• Healthy Volunteers: No
• Age Groups: Adult (18-64), Older Adult (65+)
• Sampling Method: Probability Sample

Study Population

Subjects with genetic variations in ELAPOR1 and ELAPOR2

You may qualify if:

• Understand and voluntarily sign an informed consent document prior to any study related assessments/procedures.
• subjects with genetic variations in ELAPOR1 and ELAPOR2

You may not qualify if:

• Women during pregnancy and lactation
• Treatment with any medication effecting on glucose metabolism like anti-diabetic drugs or steroids
• Any pancreatic disease
• Known current presence or history of severe neurological or psychiatric diseases, schizophrenia, bipolar disorder

Sponsors & Collaborators

• University Hospital Tuebingen: lead

Study Sites (1)

University Hopsital Tübingen

Tübingen, 72076, Germany

RECRUITING

Biospecimen

Retention: SAMPLES WITH DNA

Genetic analysis of ELAPOR1 and ELAPOR2

MeSH Terms

Conditions

Diabetes Mellitus, Type 2

Condition Hierarchy (Ancestors)

Diabetes Mellitus; Glucose Metabolism Disorders; Metabolic Diseases; Nutritional and Metabolic Diseases; Endocrine System Diseases

Study Officials

• Reiner Jumpertz-von Schwartzenberg, MD

  University Hopsital Tübingen

  PRINCIPAL INVESTIGATOR

Central Study Contacts

Reiner Jumpertz-von Schwartzenberg, MD

CONTACT

+49 7071 29 68934; Reiner.Jumpertz-vs@med.uni-tuebingen.de

Study Design

• Study Type: observational
• Observational Model: COHORT
• Time Perspective: CROSS SECTIONAL
• Sponsor Type: OTHER
• Responsible Party: SPONSOR

Study Record Dates

• First Submitted: September 26, 2022
• First Posted: October 12, 2022
• Study Start: September 15, 2023
• Primary Completion: October 1, 2024
• Study Completion: March 1, 2025
• Last Updated: September 25, 2023

Record last verified: 2023-08

Locations

DE (1)