Clinical Trial Details
— Status: Enrolling by invitation
Administrative data
| NCT number |
NCT05368220 |
| Other study ID # |
9090-00078B |
| Secondary ID |
|
| Status |
Enrolling by invitation |
| Phase |
|
| First received |
|
| Last updated |
|
| Start date |
May 6, 2022 |
| Est. completion date |
May 31, 2027 |
Study information
| Verified date |
May 2022 |
| Source |
University of Copenhagen |
| Contact |
n/a |
| Is FDA regulated |
No |
| Health authority |
|
| Study type |
Observational
|
Clinical Trial Summary
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.
Description:
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
