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Enrolling by Invitation

NCT Number: NCT05368220

Translating Genetic Knowledge Into Clinical Care in Non-Autoimmune Diabetes

The aim of TRANSLATE is to implement genetic information directly into patient care to improve diagnosis and treatment of non-autoimmune diabetes. This project is the first large-scale implementation of systematic genetic testing within a common, non-communicable, chronic disease in Denmark, and will spearhead efforts to advance personalized medicine in Denmark.

The project will contribute to establishing technology, workflow, and evidence on how to implement and communicate actionable genetic information to clinicians and patients in a generalized format. These developments are pivotal for personalized medicine to reach broader clinical application.

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Key information

Conditions

Diabetes Mellitus, Type 2 Diabetes Mellitus Diabetes, Gestational Endocrine System Diseases Female Urogenital Diseases and Pregnancy Complications Glucose Metabolism Disorders Metabolic Diseases Nutritional and Metabolic Diseases Pregnancy Complications Urogenital Diseases

Age range

18 year and older

Sex eligibility

All sexes

Study type

Observational

Primary location

Rigshospitalet, Copenhagen, Denmark

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About this study

The TRANSLATE project is an integrative project with multifaceted goals, that can be broken down into two main columns. The foundation for both columns is the WGS analysis in a clinical diagnostic setting in order to guide patient treatment. Patients are not randomized and the inclusion and exclusion criteria are deliberately broad and minimal, respectively.

The first column is the clinical development project, which seeks to complete a novel diagnostic process. This column will develop new pipelines and uncover barriers and challenges associated with gene-based precision medicine to facilitate sustainable implementation of gene-based precision medicine beyond the TRANSLATE project.

During the project, we wish to focus on potential barriers against a broad application of gene-based precision medicine in a common disease. These may include:

  • Challenges pertaining to the selection of variants that are deemed clinically actionable, automation of genetic interpretation/translation, and the feasibility of large-scale precision medicine implementation
  • Ethical concerns of patients, clinicians, and other technicians with regard to the application and utility of genetic information
  • Validity and limitations of current computational pipelines for variant calling including the calling of structural variants and aggregate genetic tools
  • Challenges regarding the interoperability of IT systems and databases nationally in Denmark, specifically how central databases can be linked to clinical end-users
  • How implementation of genetic analyses affects clinical decision-making and/or clinical trajectories, both qualitatively and quantitatively

The second column is a register-based research project in which we will utilize data from the patients to advance gene-based precision medicine. In this column we will both address how to establish comprehensive research infrastructure, as well as answer specific research questions. We will address how to combine and harmonize genetic data with other Danish registry sources. We will use the newly established methodologies to focus on the following research areas with respect to patient stratification, clinical trajectories, complication development, and other clinically relevant outcomes:

  • Polygenic risk scores
  • Machine learning algorithms
  • Combined polygenic and monogenic traits
  • Non-coding variation
  • Structural variation, specifically exon deletions and duplications, which have previously been shown as a cause of monogenic diabetes

Who can participate

Healthy volunteers accepted: No

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

Inclusion criteria

  • Any case of non-T1D defined as debut >30 years of age, OR debut <30 years of age AND negative autoantibodies
  • Any case of diabetes diagnosed in pregnancy (obstetric departments)

Exclusion criteria

  • Age <18 years
  • Inability to provide informed consent

Treatment and study plan

Whole genome sequencing

Other

Each participant will have WGS performed in order to report on clinically actionable genetic variation in diabetes.

Other names: WGS

Primary outcomes

  1. Selection of clinically actionable genetic variation in diabetes

    Time frame: Until final patient inclusion (May 2025) + 2 years (May 2027)

    Using mixed methods such as gene burden investigations, workgroups, interviews, etc. challenges related to the selection of clinically actionable genetic variants and automation of interpretation/translation will be delineated.

  2. Ethical concerns regarding the application and utility of genetic information

    Time frame: Until final patient inclusion (May 2025) + 2 years (May 2027)

    The project will address how patients, clinicians, technicians etc. shape their understanding of the utility and challenges associated with gene-based precision medicine using ethnographic methods such as field observations and semi-structured interviews.

  3. Validity and limitations of current computational pipelines

    Time frame: Until final patient inclusion (May 2025) + 2 years (May 2027)

    By comparing computational and analytical methods, the project will investigate the validity and limitations of different computational pipelines. This includes handling of single nucleotide variants, as well as structural variation.

  4. Interoperability of IT systems and databases

    Time frame: Until final patient inclusion (May 2025) + 2 years (May 2027)

    The project will address the flow of data to and from clinical end-users, through centralized databases, both with respect to how the data flow is perceived by users and potential challenges, and how interoperability can be improved to enhance clinical utility. The project will also address how to harmonize data from different sources.

  5. Impact on clinical decision-making and clinical trajectories

    Time frame: Until final patient inclusion (May 2025) + 2 years (May 2027)

    Using mixed methods such as mapping of clinical trajectories through clinical registries and qualitative methods such as interviews, workgroups, etc., the project will investigate how implementation of gene-based precision diabetes impacts clinical decision making.

Sponsors and collaborators

Lead sponsor

University of Copenhagen

Other

Collaborators

  • BGI Europe
  • Danish National Genome Center
  • Herlev Hospital
  • Hvidovre University Hospital
  • Intomics A/S
  • Nordsjaellands Hospital
  • Rigshospitalet, Denmark
  • Steno Diabetes Center Copenhagen

Registry information

Official study title

TRANSLATE - Translating Genetic Knowledge Into Clinical Care in Non-Autoimmune Diabetes

Acronym: TRANSLATE

Important dates

Study start
2022
Primary completion
2025
Study completion
2027
First posted
May 10, 2022
Registry last updated
May 17, 2022

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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