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NCT Number: NCT04154553

Pharmacogenetic Testing of Patients With Unwanted Adverse Drug Reactions or Therapy Failure

Genetic makeup of a patient influences the efficacy and safety profile of a drug. This study is to summarize individual cases, where Pharmacogenetics (PGx) has been applied during pharmaceutical care. The primary objective is the compilation of case reports, where pharmacogenetic testing is applied to determine the hereditable component of the patient's susceptibility to experience therapy failure and/or adverse drug reactions. The experience with the compiled cases will be basis for the development of a reliable standard of procedure for pharmacogenetic testing in the community pharmacy. The cases will be supplemented with information on additional Parameters reported in the literature to affect efficacy or safety of the respective drug.

Recruiting

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Key information

Age range

2 year and older

Sex eligibility

All sexes

Study type

Observational

Primary location

Department of Pharmaceutical Sciences, University Basel

Basel, 4056, Switzerland

Location status: Recruiting

Location contact

Kurt Hersberger, Prof. Dr.

CONTACT

[email protected]

+41 61 207 1971

About this study

Genetic makeup of a patient influences the efficacy and safety profile of a drug. This study is to summarize individual cases, where Pharmacogenetics (PGx) has been applied during pharmaceutical care. Health-related data of patients experiencing therapy failure (TF) or adverse drug reaction (ADR) is collected and will then be supplemented with pharmacogenetic testing during pharmaceutical care in a study pharmacy. The patient data (diagnoses, medications and results of pharmacogenetic testing) is harmonized in order to generate a compilation of case reports. The primary objective is the compilation of case reports, where pharmacogenetic testing is applied to determine the hereditable component of the patient's susceptibility to experience therapy failure and/or adverse drug reactions. The experience with the compiled cases will be basis for the development of a reliable standard of procedure for pharmacogenetic testing in the community pharmacy. The cases will be supplemented with information on additional Parameters reported in the literature to affect efficacy or safety of the respective drug.

Who can participate

Healthy volunteers accepted: Yes

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

Inclusion criteria

  • New medication with known PGx association (preemptive)
  • Current medication with observation of adverse drug reactions probably linked to drugs with known PGx association (reactive)
  • Current medication with observation of therapy failure probably linked to drugs with known PGx association (reactive)
  • Current and/or new medication and a family history of adverse drug reactions/therapy failure probably linked to drugs with known PGx association
  • Signed informed consent; for patients < 14 years, the legal representative needs to sign the informed consent

Exclusion criteria

  • Insufficient German knowledge
  • Not able to personally visit to the study pharmacy

Treatment and study plan

Buccal swab

Diagnostic Test

Pharmacogenetic panel testing is conducted by Stratipharm with the DNA of the buccal swab. TaqMan® polymerase chain reaction is proceeded to express the genetic information. Stratipharm is a product offered by Humatrix Aktiengesellschaft (AG). It consists of a laboratory analysis of approximately 100 pharmacological relevant genetic variations (polymorphisms) in over 30 different genes, which code for transport proteins, metabolizing enzymes, or drug targets.

EDTA Blood sample (4.9mL)

Diagnostic Test

Genetic testing of potentially relevant genetic variants using the DNA extracted from the EDTA blood sample.

Serum sample (7.5mL)

Diagnostic Test

blood sample to determine the actual levels of the compound in patients on medication assumed to be associated to an observed ADR (phenotype).

communication of test results

Other

Certified study pharmacist evaluates and communicates clinically relevant test results to the subject and to the responsible physician

unstructured interview

Other

One and six months after the communication of test results, the study center will make a phone call to the patient for an unstructured interview in order to gather information about potential outcomes

Primary outcomes

  1. pharmacogenetic profile

    Time frame: single time point assessment at Baseline (=Day 0)

    genotyping by laboratory analysis of approximately 100 pharmacological relevant genetic variations (polymorphisms) in over 30 different genes

Study contacts

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

Kurt Hersberger, Prof. Dr.

CONTACT

[email protected]

+41 61 207 1971

Samuel Allemann, Prof. Dr.

CONTACT

[email protected]

+41 61 207 61 76

Sponsors and collaborators

Lead sponsor

University Hospital, Basel, Switzerland

Other

Collaborators

  • Institut für Spitalpharmazie, Solothurner Spitäler AG, Baslerstrasse 150, 4600 Olten
  • Toppharm Apotheke Hersberger, Spalenberg 41, CH-4051 Basel
  • Universitätskinderspital Zürich, Lenggstrasse 30, 8008 Zürich

Registry information

Important dates

Study start
2019
Primary completion
2026
Study completion
2026
First posted
Nov 6, 2019
Registry last updated
May 14, 2025

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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