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NCT Number: NCT06264427

Phenotypic and Genotypic Characterization of Patients With Dysmetabolism in Greenland

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

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Key information

Conditions

Diabetes Mellitus, Type 2 Apnea Body Weight Cardiovascular Diseases Diabetes Complications Diabetes Mellitus Diabetic Angiopathies Diabetic Neuropathies Diabetic Retinopathy Dyssomnias Endocrine System Diseases Eye Diseases Glucose Metabolism Disorders MODY Metabolic Diseases Nervous System Diseases Neuromuscular Diseases Nutrition Disorders Nutritional and Metabolic Diseases Obesity Obesity, Morbid Obstructive Sleep Apnea Overnutrition Overweight Pathological Conditions, Signs and Symptoms Peripheral Nervous System Diseases Respiration Disorders Respiratory Tract Diseases Retinal Diseases Signs and Symptoms Sleep Apnea Syndromes Sleep Apnea, Obstructive Sleep Disorders, Intrinsic Sleep Wake Disorders Vascular Diseases

Age range

18 year and older

Sex eligibility

All sexes

Study type

Interventional

Phase

Not applicable

Primary location

About this study

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.

Who can participate

Healthy volunteers accepted: No

Only the study team can determine whether someone qualifies for participation.

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

Treatment and study plan

Whole Genome Sequencing

Genetic

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

VAGUS

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

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

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).

Primary outcomes

  1. Number of participants with MODY diabetes and their complication status

    Time frame: Blood drawn at inclusion. Results for participants ready after approximately 6 months.

    What is the proportion of patients linked to care at SDCG who have MODY diabetes, and to what degree do they suffer from micro- and macrovascular complication.

  2. Number of participants with diabetic complication

    Time frame: Types and number of complications are available at inclusion. No follow-up screenings for complications are performed.

    What is the proportion of participants with diabetes complication overall.

  3. Number of participants with obstructive sleep apnea

    Time frame: Home sleep testing is performed for 3 nights after inclusion. Confirmatory home sleep examinations performed one day after the initial sleep examination. In total, four days examinations time.

    What proportion of participants suffer from OSA.

Secondary outcomes

  1. CPAP compliance in Greenlandic patients

    Time frame: CPAP compliance is evaluated 6 months after treatment initiation.

    Is it possible to develop and implement a specialized treatment regime for obstructive sleep apnea in Greenland with similar treatment compliance when compared with other populations. CPAP compliance is evaluated through the online treatment system Airview (Resmed), where compliance is defined as minimum 4 hours use for 70% of nights in the past 90 days.

  2. CPAP treatment effect on quality of life measured with the World Health Organization Well-being Index (WHO-5).

    Time frame: The questionnaire is answered at inclusion and 6 months after.

    The World Health Organization Well-being Index (WHO-5) questionnaire is performed at inclusion and 6 months after. The raw scores are transformed to a score between 0 and 100, where high scores indicate higher wellbeing. Scores for participants in CPAP treatment will be compared before and after treatment to examine the effect of CPAP on quality of life.

  3. CPAP treatment effect on daytime sleepiness measured with the functional outcome of sleep questionnaire (FOSQ-10).

    Time frame: The questionnaire is answered at inclusion and 6 months after.

    The functional outcome of sleep questionnaire (FOSQ-10) is performed at inclusion and 6 months after. A total score, with a potential value between 5-20, is calculated. Low values indicate excessive daytime sleepiness while high scores indicate no excessive daytime sleepiness. Scores for participants in CPAP treatment will be compared before and after treatment to examine the effect of CPAP on quality of life.

Study contacts

Contact information is provided by the study sponsor or research team.

Mads Jensen, MD.

CONTACT

[email protected]

+299 34 46 23

Marit Eika Jørgensen, MD. Ph.d

CONTACT

[email protected]

+299 34 43 24

Sponsors and collaborators

Lead sponsor

Steno Diabetes Center Greenland

Other

Collaborators

  • University of Copenhagen
  • Zealand University Hospital

Registry information

Important dates

Study start
2022
Primary completion
2025
Study completion
2026
First posted
Feb 20, 2024
Registry last updated
Feb 20, 2024

OpenTrials presents study information sourced from ClinicalTrials.gov. The official registry record should be consulted for the latest information.

View the official ClinicalTrials.gov record (opens in a new tab)

This listing is for discovery and informational purposes only. It is not medical advice, does not guarantee that a study is recruiting, and does not determine eligibility. Contact the study team and a qualified healthcare professional when considering participation.

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