Phenotypic and Genotypic Characterization of Patients With Dysmetabolism in Greenland

NCT ID: NCT06264427

Last Updated: 2024-02-20

Study Results

Results pending

The study team has not published outcome measurements, participant flow, or safety data for this trial yet. Check back later for updates.

Basic Information

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Recruitment Status

RECRUITING

Clinical Phase

NA

Total Enrollment

1000 participants

Study Classification

INTERVENTIONAL

Study Start Date

2022-07-15

Study Completion Date

2026-12-31

Brief Summary

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The goal of this clinical trial is to perform a detailed description of the feno- and genotype of people living with type 2 diabetes and severe obesity who are linked to care at Steno Diabetes Center Greenland.

The main questions it aims to answer are:

* Are monogenetic diabetes variants associated with the same risk of developing late diabetic complications as other types of diabetes?
* Can genotyping and thereby personalized medicine be implemented in Greenland, and can personalized medicine lead to improved treatment?
* What is the prevalence of sleep apnea among high-risk individuals in Greenland?
* Is it possible to develop and implement a simple algorithm for the identification of sleep apnea in Greenland that can ensure treatment of severe sleep apnea?

Participants will:

* Answer WHO-5 and FOSQ-10 questionnaires regarding quality of life and functional outcomes of sleepiness
* Perform VAGUS examinations for Cardiovasculare Autonomic Neuropathy
* Clinical examination of height, weight, circumference of hip, waist and neck, Friedman tonsil and tongue score, nasal air flow, nasal septal deviation
* Blood samples for full genome sequencing

Detailed Description

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The phenotypic and genotypic characteristics of dysmetabolism in the Greenlandic Inuit population are yet to be described in detail. However, the unique interaction of genetic and environmental factors in this population and its effect on disease development calls for further investigation. Therefore, we aim to examine how metabolic diseases manifest and progress distinctively in this population compared to Western populations.

The study employs whole genome sequencing, with a focus on identifying variants in the TBC1D4 gene, which is linked to muscular insulin resistance, and HNF1α, associated with MODY (Maturity-onset Diabetes of the Young) diabetes. In addition, the prevalence of Obstructive Sleep Apnea (OSA) in relation to metabolic disorders is examined. Our methodology combines genetic analysis with clinical evaluations to understand the impact of these genetic factors on disease manifestation and potential complications.

The findings will likely offer a unique perspective on the genetic influence on metabolic diseases in the Greenlandic Inuit population, highlighting the significance of novel genetic variants for disease management and prevention. The study investigates the relationship between metabolic disorders and OSA, and aims to describe how diagnosis and treatment of OSA can be introduced in an Arctic setting. This research emphasizes the need for genotype-aware treatment approaches and culturally tailored healthcare strategies, not only for the Greenlandic Inuit but also as a model for personalized medicine approaches in other populations. The insights gained here contribute to a deeper understanding of metabolic diseases, potentially influencing future global healthcare strategies.

Conditions

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Diabetes Mellitus, Type 2 Obesity, Morbid Obstructive Sleep Apnea MODY Diabetic Retinopathy Diabetic Neuropathies

Study Design

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Allocation Method

NA

Intervention Model

SINGLE_GROUP

Participants will be examined with whole genom sequencing, and diabetes treatment will be accommodated their diabetic fenotype.

'For the intervention, participants will be screened for obstructive sleep apnea (OSA). Participants with signs of OSA will be offered treatment with Continuos Positive Airway Pressure.
Primary Study Purpose

TREATMENT

Blinding Strategy

NONE

Study Groups

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Intervention arm

All participants will undergo examination for genom sequencing, diabetic complications and obstructive sleep apnea. Treatment for these conditions will not be randomized, but will be offered any participant who fulfills the excision treatment criteria

Group Type EXPERIMENTAL

Whole genome sequencing

Intervention Type GENETIC

Screening for MODY diabetes. Diabetic treatment will be adjusted based on the participant's diabetic genotype.

VAGUS

Intervention Type DIAGNOSTIC_TEST

To examine for Cardiovasculare Autonomic Neuropathy participants will be tested with the handheld Vagus device (Medicus Engineering, Aarhus, Denmark). Participants are instructed to perform three cardiovascular reflex tests (CARTs) after lying still in supine position for 5 minutes to record heart rate at rest. CARTs include supine-to-upright position, deep-breathing, and valsalva maneuver. From each CART the ratio based on the shortest and longest R-R-interval at predefined timepoints in the recording is used to assess the possibility of CAN

NightOwl

Intervention Type DIAGNOSTIC_TEST

Participants will be examined for sleep apnea for 3 nights using the NightOwl (Ectosense, Belgium) device, which measuring Peripheral Arterial Tonometry (PAT) in the index finger. The results of the examination will is uploaded via the patient's smartphone to an online platform accessible to healthcare providers. Participants with signs of sleep apnea will receive a confirmatory cardiorespiratory monitoring using the Nox T3s (Noxturnal, ResMed), and the results will be compared.

CPAP

Intervention Type DEVICE

Participants with an Apnea-Hypoapnea-Index above 30, or above 15 with symptoms of sleep apnea, will be offered treatment with continuous positive airway pressure (CPAP).

Interventions

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Whole genome sequencing

Screening for MODY diabetes. Diabetic treatment will be adjusted based on the participant's diabetic genotype.

Intervention Type GENETIC

VAGUS

To examine for Cardiovasculare Autonomic Neuropathy participants will be tested with the handheld Vagus device (Medicus Engineering, Aarhus, Denmark). Participants are instructed to perform three cardiovascular reflex tests (CARTs) after lying still in supine position for 5 minutes to record heart rate at rest. CARTs include supine-to-upright position, deep-breathing, and valsalva maneuver. From each CART the ratio based on the shortest and longest R-R-interval at predefined timepoints in the recording is used to assess the possibility of CAN

Intervention Type DIAGNOSTIC_TEST

NightOwl

Participants will be examined for sleep apnea for 3 nights using the NightOwl (Ectosense, Belgium) device, which measuring Peripheral Arterial Tonometry (PAT) in the index finger. The results of the examination will is uploaded via the patient's smartphone to an online platform accessible to healthcare providers. Participants with signs of sleep apnea will receive a confirmatory cardiorespiratory monitoring using the Nox T3s (Noxturnal, ResMed), and the results will be compared.

Intervention Type DIAGNOSTIC_TEST

CPAP

Participants with an Apnea-Hypoapnea-Index above 30, or above 15 with symptoms of sleep apnea, will be offered treatment with continuous positive airway pressure (CPAP).

Intervention Type DEVICE

Eligibility Criteria

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Inclusion Criteria

* Type 2 diabetes and/or morbid obesity (BMI \>40)
* Over 18 years old

Exclusion Criteria

* Does not speak either English, Danish or Greenlandic
Minimum Eligible Age

18 Years

Eligible Sex

ALL

Accepts Healthy Volunteers

No

Sponsors

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Zealand University Hospital

OTHER

Sponsor Role collaborator

University of Copenhagen

OTHER

Sponsor Role collaborator

Steno Diabetes Center Greenland

OTHER

Sponsor Role lead

Responsible Party

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Responsibility Role SPONSOR

Principal Investigators

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Marit Eika Jørgensen, Md. Phd

Role: PRINCIPAL_INVESTIGATOR

Steno Diabetes Center Greenland

Locations

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Steno Diabetes Center Greenland, Queen Ingrids Hospital

Nuuk, Sermersooq, Greenland

Site Status RECRUITING

Countries

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Greenland

Central Contacts

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Mads Jensen, MD.

Role: CONTACT

+299 34 46 23

Marit Eika Jørgensen, MD. Ph.d

Role: CONTACT

+299 34 43 24

Facility Contacts

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Mads Mose Jensen, MD.

Role: primary

+299 34 46 23

Marit Eika Jørgensen, Md. Ph.d

Role: backup

Other Identifiers

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KVUG - 2022 - 10

Identifier Type: -

Identifier Source: org_study_id

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