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CYP2D6 Polymorphism in Patients of General Practice in Austria

The safety and scientific validity of this study is the responsibility of the study sponsor and investigators. Listing a study does not mean it has been evaluated by the U.S. Federal Government. Read our disclaimer for details.
 
ClinicalTrials.gov Identifier: NCT03859622
Recruitment Status : Completed
First Posted : March 1, 2019
Results First Posted : October 30, 2019
Last Update Posted : October 30, 2019
Sponsor:
Information provided by (Responsible Party):
Gustav Kamenski, Karl Landsteiner Institute for Systematics in General Medicine

Brief Summary:

The CYP 2D6 enzyme metabolizes a significant number of drugs frequently prescribed in general practice/ family medicine. Various genetically different variants define if the patient is an ultra-rapid (UM), an normal (NM) (the normal case), an intermediate (IM) or a poor metabolizer (PM). It is estimated that approximately 20- 25 % of frequently described drugs are activated to more active or metabolized to ineffective or less effective drugs by CYP 2D6. Substrates of CYP 2D6 are mainly antidepressants, neuroleptics, opioids (e.g. codeine), beta-blockers, anti-arrhythmic drugs and various other single drugs. In case of an UM a drug can be metabolized too rapidly losing its therapeutic effect, requiring a higher dosage, or it can have a toxic effect, if it is converted too rapidly in the effective form (e.g. codeine). If metabolized too slowly (PM) it can accumulate and reach toxic levels.

In this observational study (1) data relating to the number of patients of a single Austrian general practice receiving one or more drugs metabolized by CYP 2D6 are collected by extracting their electronic records of the last 3 years. In addition (2) consecutive patients with unknown genetic status of their CYP 2D6 enzyme visiting the surgery for a routine blood test due to various reasons, are additionally tested for their CYP 2D6 metabolizing status, if they actually take a drug metabolized by CYP 2D6.

The aim of the study is to generate CYP 2D6 polymorphism data from Caucasian patients of an average Austrian general practice for the first time, which allows to group patients according to their NM, UM, IM and PM status. This can be of considerable clinical relevance when prescribing specific drugs. This study tries to investigate in how many patients the knowledge of the CYP 2D6 metabolizing status could have an influence on choosing the actually prescribed drug. In addition we plan to describe the distribution of frequent and relevant CYP 2D6 alleles including their combinations in patients of an average Austrian general practice for comparison reasons with other Caucasian populations.


Condition or disease
Disorder Due Cytochrome P450 CYP2D6 Variant

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Study Type : Observational
Actual Enrollment : 289 participants
Observational Model: Other
Time Perspective: Other
Official Title: CYP2D6 Polymorphism Defining UM, IM, NM and PM Status in Unselected Medically Treated Patients of General Practice in Austria
Actual Study Start Date : October 9, 2017
Actual Primary Completion Date : October 9, 2018
Actual Study Completion Date : October 9, 2018



Primary Outcome Measures :
  1. Frequency of Metabolizer Status (PM, IM, NM, UM) in Patients [ Time Frame: 1 Year ]

    Remark: each participant possesses a) two individual CYP2D6 alleles, b) from the combination of these two alleles one individual genotype is derived and c) from this genotype the genetically determined metabolizer status (PM, IM, NM, UM) is derived.

    A patient can be considered a ultra-rapid (UM), a normal (NM), an intermediate (IM), or a poor metabolizer (PM) of a given drug


  2. Frequency of CYP2D6 Alleles in Patients [ Time Frame: 1 Year ]

    The frequency of 19 different CYP2D6 alleles in 287 patients is determined. In 2 out of all 289 patients the determination was not possible due to technical problems.

    Remark: each participant possesses a) two individual CYP2D6 alleles, b) from the combination of these two alleles one individual genotype is derived and c) from this genotype the genetically determined metabolizer status (PM, IM, NM, UM) is derived.


  3. Frequency of CYP2D6 Genotypes in Patients [ Time Frame: 1 Year ]

    The frequency of 61 different CYP2D6 genotypes in 287 patients is determined. In 2 out of all 289 patients the determination was not possible due to technical problems.

    Remark: each participant possesses a) two individual CYP2D6 alleles, b) from the combination of these two alleles one individual genotype is derived and c) from this genotype the genetically determined metabolizer status (PM, IM, NM, UM) is derived.



Secondary Outcome Measures :
  1. Number of Participants in Whom the Family Physician Considered Prior Knowledge of Their Metabolizer Status Important Before the CYP2D6-specific Drug Was Prescriped. [ Time Frame: 1 Year ]
    In how many patients would family physician's knowledge of the CYP 2D6 metabolizer status (ultrarapid (UM), normal (NM), intermediate (IM) and poor (PM)) have been of importance before prescribing a CYP2D6 specific drug. Remark: The relevant drug has already already been prescribed before analysis has been taken place.

  2. Specific Number of Patients of the Whole Practice Population Whose Electronic Health Records (EHRs) Were Assessed. [ Time Frame: 1 Year ]
    The specific number of participants of the practice population with a prescription of drugs metabolized by CYP 2D6 within the last 3 years. These data were extracted from the electronic health records (EHRs) of the practice office. For this data extraction enrollement in the study and signing an informed consent was not necessary. No other data (i.e. baseline assessments, other outcome measures and adverse events) were collected in this group.


Biospecimen Retention:   Samples With DNA
DNA extraction from peripheral white blood cells


Information from the National Library of Medicine

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Ages Eligible for Study:   18 Years to 100 Years   (Adult, Older Adult)
Sexes Eligible for Study:   All
Accepts Healthy Volunteers:   No
Sampling Method:   Non-Probability Sample
Study Population
Unselected consecutive patients of an Austrian general practice suffering from chronic diseases visting the practice office for a routine blood test
Criteria

Inclusion Criteria:

  • Patients with clinical diagnosis of hypertension, diabetes, chronic heart failure, hyperlipidemias, depression, schizophrenia, cardial arrhythmias, thyroid diseases and dementia

Exclusion Criteria:

  • acute infectious diseases

Information from the National Library of Medicine

To learn more about this study, you or your doctor may contact the study research staff using the contact information provided by the sponsor.

Please refer to this study by its ClinicalTrials.gov identifier (NCT number): NCT03859622


Locations
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Austria
Practice Office
Angern, Lower Austria, Austria, A 2261
Sponsors and Collaborators
Karl Landsteiner Institute for Systematics in General Medicine
Investigators
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Principal Investigator: Gustav Kamenski Karl Landsteiner Institute for Systematics in General Medicine
  Study Documents (Full-Text)

Documents provided by Gustav Kamenski, Karl Landsteiner Institute for Systematics in General Medicine:
Publications automatically indexed to this study by ClinicalTrials.gov Identifier (NCT Number):
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Responsible Party: Gustav Kamenski, General Practitioner/Family Physician, Karl Landsteiner Institute for Systematics in General Medicine
ClinicalTrials.gov Identifier: NCT03859622    
Other Study ID Numbers: KarlLandsteinerISGM CYP2D6
First Posted: March 1, 2019    Key Record Dates
Results First Posted: October 30, 2019
Last Update Posted: October 30, 2019
Last Verified: October 2019
Individual Participant Data (IPD) Sharing Statement:
Plan to Share IPD: Yes
Plan Description: Distribution of CYP 2D6 polymorphism and CYP 2D6 metabolizer- status (based on allele combination and copy number Variation) can be shared with other researchers
Supporting Materials: Study Protocol
Statistical Analysis Plan (SAP)
Informed Consent Form (ICF)
Clinical Study Report (CSR)
Time Frame: 2018 and 2019
Access Criteria: Researchers working in the pharmacogenetic field

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Studies a U.S. FDA-regulated Drug Product: No
Studies a U.S. FDA-regulated Device Product: No
Keywords provided by Gustav Kamenski, Karl Landsteiner Institute for Systematics in General Medicine:
Cytochrome P 450 CYP2D6 Variants
Genetic polymorphism
Practice, Family
Drug metabolism