Trial Outcomes & Findings for CYP2D6 Polymorphism in Patients of General Practice in Austria (NCT NCT03859622)

NCT ID: NCT03859622

Last Updated: 2019-10-30

Results Overview

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

Recruitment status

COMPLETED

Target enrollment

289 participants

Primary outcome timeframe

1 Year

Results posted on

2019-10-30

Participant Flow

Participant milestones

Participant milestones
Measure
Observational Cohort Cross-sectional Study
The study takes place in an average Austrian general practice in 2017 and 2018 enrolling 289 unselected consecutive patients visiting the practice office for a routine blood test for various chronic medical conditions. Only in case a patient is actually taking or has been prescribed a drug metabolized by CYP2D6 (or a drug which is a strong inhibitor of CYP2D6) within the last 3 years, the genetic polymorphism of CYP2D6 is determined. No further genetic investigations, additional blood collections or interventions are performed.
Overall Study
STARTED
289
Overall Study
COMPLETED
289
Overall Study
NOT COMPLETED
0

Reasons for withdrawal

Withdrawal data not reported

Baseline Characteristics

Baseline: 289 participants

Baseline characteristics by cohort

Baseline characteristics by cohort
Measure
Observational Cohort Cross-sectional Study
n=289 Participants
The study takes place in an average Austrian general practice in 2017 and 2018 enrolling 289 unselected consecutive patients visiting the practice office for a routine blood test for various chronic medical conditions. Only in case a patient is actually taking or has been prescribed a drug metabolized by CYP2D6 (or a drug which is a strong inhibitor of CYP2D6) within the last 3 years, the genetic polymorphism of CYP2D6 is determined. No further genetic investigations, additional blood collections or interventions are performed. All participants gave written consent.
Age, Categorical
<=18 years
0 Participants
n=99 Participants • Baseline: 289 participants
Age, Categorical
Between 18 and 65 years
90 Participants
n=99 Participants • Baseline: 289 participants
Age, Categorical
>=65 years
199 Participants
n=99 Participants • Baseline: 289 participants
Sex: Female, Male
Female
166 Participants
n=99 Participants
Sex: Female, Male
Male
123 Participants
n=99 Participants
Race (NIH/OMB)
American Indian or Alaska Native
0 Participants
n=99 Participants
Race (NIH/OMB)
Asian
0 Participants
n=99 Participants
Race (NIH/OMB)
Native Hawaiian or Other Pacific Islander
0 Participants
n=99 Participants
Race (NIH/OMB)
Black or African American
0 Participants
n=99 Participants
Race (NIH/OMB)
White
289 Participants
n=99 Participants
Race (NIH/OMB)
More than one race
0 Participants
n=99 Participants
Race (NIH/OMB)
Unknown or Not Reported
0 Participants
n=99 Participants
Region of Enrollment
Austria
289 Participants
n=99 Participants
Number of patients with a prescription of a CYP2D6 specific drug and routine blood test
289 Participants
n=99 Participants

PRIMARY outcome

Timeframe: 1 Year

Population: 289 unselected consecutive patients with a prescription of a CYP2D6 relevant drug during the last 3 years and who are visiting the practice office for a routine blood test. Due to technical problems the metabolizer status of two patients could not be determined!

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

Outcome measures

Outcome measures
Measure
Frequencies of Metabolizer Status (PM, IM, NM, UM)
n=287 Participants
In 289 unselected consecutive patients visiting the practice office for a routine blood test for various chronic medical conditions and only in case the patient has been prescribed a drug metabolized by the CYP2D6 enzyme (or a drug which is a strong inhibitor of CYP2D6) within the last 3 years, his or her metabolizer status (PM,IM,NM, UM) is analysed.
Frequency of Metabolizer Status (PM, IM, NM, UM) in Patients
Normal Metabolizer (NM)
233 Participants
Frequency of Metabolizer Status (PM, IM, NM, UM) in Patients
Poor Metabolizer (PM)
22 Participants
Frequency of Metabolizer Status (PM, IM, NM, UM) in Patients
Intermediate Metabolizer (IM)
21 Participants
Frequency of Metabolizer Status (PM, IM, NM, UM) in Patients
Ultra-rapid Metabolizer (UM)
11 Participants

PRIMARY outcome

Timeframe: 1 Year

Population: In 289 unselected consecutive patients visiting the practice office for a routine blood test for various chronic medical conditions and only in case the patient has been prescribed a drug metabolized by the CYP2D6 enzyme (or a drug which is a strong inhibitor of CYP2D6) within the last 3 years, his or her CYP2D6 alleles are analyzed.

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.

Outcome measures

Outcome measures
Measure
Frequencies of Metabolizer Status (PM, IM, NM, UM)
n=287 Participants
In 289 unselected consecutive patients visiting the practice office for a routine blood test for various chronic medical conditions and only in case the patient has been prescribed a drug metabolized by the CYP2D6 enzyme (or a drug which is a strong inhibitor of CYP2D6) within the last 3 years, his or her metabolizer status (PM,IM,NM, UM) is analysed.
Frequency of CYP2D6 Alleles in Patients
*1s
55 Participants
Frequency of CYP2D6 Alleles in Patients
*4s
25 Participants
Frequency of CYP2D6 Alleles in Patients
*6s
7 Participants
Frequency of CYP2D6 Alleles in Patients
*5s
5 Participants
Frequency of CYP2D6 Alleles in Patients
*3s
3 Participants
Frequency of CYP2D6 Alleles in Patients
*1
122 Participants
Frequency of CYP2D6 Alleles in Patients
*4A-H,K,L or P
80 Participants
Frequency of CYP2D6 Alleles in Patients
*2A
77 Participants
Frequency of CYP2D6 Alleles in Patients
*41
26 Participants
Frequency of CYP2D6 Alleles in Patients
*35
30 Participants
Frequency of CYP2D6 Alleles in Patients
*5
18 Participants
Frequency of CYP2D6 Alleles in Patients
*9
12 Participants
Frequency of CYP2D6 Alleles in Patients
*10A or B
9 Participants
Frequency of CYP2D6 Alleles in Patients
*3
8 Participants
Frequency of CYP2D6 Alleles in Patients
*6A,B or D
7 Participants
Frequency of CYP2D6 Alleles in Patients
*39
1 Participants
Frequency of CYP2D6 Alleles in Patients
*2B-M
1 Participants
Frequency of CYP2D6 Alleles in Patients
*17
1 Participants
Frequency of CYP2D6 Alleles in Patients
*15
1 Participants

PRIMARY outcome

Timeframe: 1 Year

Population: 289 unselected consecutive patients with a prescription of a CYP2D6 relevant drug during the last 3 years and who are visiting the practice office for a routine blood test. Due to technical problems the genotypes of two patients could not be determined!

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.

Outcome measures

Outcome measures
Measure
Frequencies of Metabolizer Status (PM, IM, NM, UM)
n=287 Participants
In 289 unselected consecutive patients visiting the practice office for a routine blood test for various chronic medical conditions and only in case the patient has been prescribed a drug metabolized by the CYP2D6 enzyme (or a drug which is a strong inhibitor of CYP2D6) within the last 3 years, his or her metabolizer status (PM,IM,NM, UM) is analysed.
Frequency of CYP2D6 Genotypes in Patients
*2A/*17
1 Participants
Frequency of CYP2D6 Genotypes in Patients
*15/*35 xN
1 Participants
Frequency of CYP2D6 Genotypes in Patients
*1/*6A,B or D xN
1 Participants
Frequency of CYP2D6 Genotypes in Patients
*1/*4A-H,K,L or P xN
1 Participants
Frequency of CYP2D6 Genotypes in Patients
*1/*35 xN
1 Participants
Frequency of CYP2D6 Genotypes in Patients
*1s/*1s
23 Participants
Frequency of CYP2D6 Genotypes in Patients
*1s/*4s
19 Participants
Frequency of CYP2D6 Genotypes in Patients
*1s/*6s
5 Participants
Frequency of CYP2D6 Genotypes in Patients
*1s/*5s
3 Participants
Frequency of CYP2D6 Genotypes in Patients
*1s/*1s xN
2 Participants
Frequency of CYP2D6 Genotypes in Patients
*4s/*5s
2 Participants
Frequency of CYP2D6 Genotypes in Patients
*1s/*4s xN
2 Participants
Frequency of CYP2D6 Genotypes in Patients
*1s/*3s
1 Participants
Frequency of CYP2D6 Genotypes in Patients
*4s/*6s
1 Participants
Frequency of CYP2D6 Genotypes in Patients
*3s/*6s
1 Participants
Frequency of CYP2D6 Genotypes in Patients
*3s/*4s
1 Participants
Frequency of CYP2D6 Genotypes in Patients
*1/*2A
29 Participants
Frequency of CYP2D6 Genotypes in Patients
*1/*4A-H,K,L or P
25 Participants
Frequency of CYP2D6 Genotypes in Patients
*1/*1
24 Participants
Frequency of CYP2D6 Genotypes in Patients
*2A/*4A-H,K,L or P
15 Participants
Frequency of CYP2D6 Genotypes in Patients
*1/*41
11 Participants
Frequency of CYP2D6 Genotypes in Patients
*4A-H,K,L or P/*4A-H,K,L or P
10 Participants
Frequency of CYP2D6 Genotypes in Patients
*4A-H,K,L or P/*41
9 Participants
Frequency of CYP2D6 Genotypes in Patients
*1/*5
9 Participants
Frequency of CYP2D6 Genotypes in Patients
*2A/*2A
7 Participants
Frequency of CYP2D6 Genotypes in Patients
*4A-H,K,L or P/*35
6 Participants
Frequency of CYP2D6 Genotypes in Patients
*1/*35
6 Participants
Frequency of CYP2D6 Genotypes in Patients
*2A/*35
5 Participants
Frequency of CYP2D6 Genotypes in Patients
*4A-H,K,L or P/*9
4 Participants
Frequency of CYP2D6 Genotypes in Patients
*35/*41
4 Participants
Frequency of CYP2D6 Genotypes in Patients
*2A/*41
4 Participants
Frequency of CYP2D6 Genotypes in Patients
*1/*10A or B
4 Participants
Frequency of CYP2D6 Genotypes in Patients
*4A-H,K,L or P/10A or B
3 Participants
Frequency of CYP2D6 Genotypes in Patients
*4A-H,K,L or P/*6A,B or D
3 Participants
Frequency of CYP2D6 Genotypes in Patients
*41/*41
3 Participants
Frequency of CYP2D6 Genotypes in Patients
*2A/*5
3 Participants
Frequency of CYP2D6 Genotypes in Patients
*1/*3
3 Participants
Frequency of CYP2D6 Genotypes in Patients
*9/*41
2 Participants
Frequency of CYP2D6 Genotypes in Patients
*9/*35
2 Participants
Frequency of CYP2D6 Genotypes in Patients
*5/*41
2 Participants
Frequency of CYP2D6 Genotypes in Patients
*4A-H,K,L or P/*5
2 Participants
Frequency of CYP2D6 Genotypes in Patients
*2A/*9
2 Participants
Frequency of CYP2D6 Genotypes in Patients
*2A/*35 xN
2 Participants
Frequency of CYP2D6 Genotypes in Patients
*2A/*2A xN
2 Participants
Frequency of CYP2D6 Genotypes in Patients
*1/*9
2 Participants
Frequency of CYP2D6 Genotypes in Patients
*1/*6A,B or D
2 Participants
Frequency of CYP2D6 Genotypes in Patients
*1/*2A xN
2 Participants
Frequency of CYP2D6 Genotypes in Patients
*1/*1 xN
2 Participants
Frequency of CYP2D6 Genotypes in Patients
*6A, B or D/*41 xN
1 Participants
Frequency of CYP2D6 Genotypes in Patients
*5/*5
1 Participants
Frequency of CYP2D6 Genotypes in Patients
*5/*35
1 Participants
Frequency of CYP2D6 Genotypes in Patients
*35/*39
1 Participants
Frequency of CYP2D6 Genotypes in Patients
*35/*35
1 Participants
Frequency of CYP2D6 Genotypes in Patients
*3/*4A-H,K,L or P
1 Participants
Frequency of CYP2D6 Genotypes in Patients
*3/*41
1 Participants
Frequency of CYP2D6 Genotypes in Patients
*3/*10A or B
1 Participants
Frequency of CYP2D6 Genotypes in Patients
*2A/*4A-H,K,L or P xN
1 Participants
Frequency of CYP2D6 Genotypes in Patients
*2A/*3 xN
1 Participants
Frequency of CYP2D6 Genotypes in Patients
*2A/*3
1 Participants
Frequency of CYP2D6 Genotypes in Patients
*2A/*2B-M
1 Participants
Frequency of CYP2D6 Genotypes in Patients
*2A/*10A or B
1 Participants

SECONDARY outcome

Timeframe: 1 Year

Population: 289 unselected consecutive patients with a prescription of a CYP2D6 relevant drug during the last 3 years visiting the practice office for a routine blood test. Due to technical problems only 287 could be analyzed.

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.

Outcome measures

Outcome measures
Measure
Frequencies of Metabolizer Status (PM, IM, NM, UM)
n=287 Participants
In 289 unselected consecutive patients visiting the practice office for a routine blood test for various chronic medical conditions and only in case the patient has been prescribed a drug metabolized by the CYP2D6 enzyme (or a drug which is a strong inhibitor of CYP2D6) within the last 3 years, his or her metabolizer status (PM,IM,NM, UM) is analysed.
Number of Participants in Whom the Family Physician Considered Prior Knowledge of Their Metabolizer Status Important Before the CYP2D6-specific Drug Was Prescriped.
29 Participants

SECONDARY outcome

Timeframe: 1 Year

Population: Specific number of participants of the whole practice population with a prescription of a CYP2D6 relevant drug. Participants belonging to this specific group did not need to sign an informed consent form. No other data (i.e. baseline assessments, other outcome measures and adverse events) were collected in this group.

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.

Outcome measures

Outcome measures
Measure
Frequencies of Metabolizer Status (PM, IM, NM, UM)
n=3016 Participants
In 289 unselected consecutive patients visiting the practice office for a routine blood test for various chronic medical conditions and only in case the patient has been prescribed a drug metabolized by the CYP2D6 enzyme (or a drug which is a strong inhibitor of CYP2D6) within the last 3 years, his or her metabolizer status (PM,IM,NM, UM) is analysed.
Specific Number of Patients of the Whole Practice Population Whose Electronic Health Records (EHRs) Were Assessed.
668 Participants

Adverse Events

Observational Cohort Cross-sectional Study

Serious events: 0 serious events
Other events: 0 other events
Deaths: 0 deaths

Serious adverse events

Adverse event data not reported

Other adverse events

Adverse event data not reported

Additional Information

Dr.med.Gustav Kamenski

Karl Landsteiner Institute of General Medicine

Phone: +4322832226

Results disclosure agreements

  • Principal investigator is a sponsor employee
  • Publication restrictions are in place