Pharmacogenetic Testing of Patients With Unwanted Adverse Drug Reactions or Therapy Failure
For patients and families
In plain language
An automatic summary of structured registry data. It is an orientation aid, not a substitute for the official protocol or a physician assessment.
- What is being studied
- The protocol lists: Buccal swab, EDTA Blood sample (4.9mL), Serum sample (7.5mL), communication of test results.
- Who it may be relevant to
- Registry conditions: Adverse Drug Reaction, Therapy Failure. Basic parameters: from 2 years · All.
- What needs checking
- Age, condition and sex are only basic indicators. Prior treatment, laboratory values and other mandatory requirements appear in the eligibility criteria below.
- Where it takes place
- Switzerland
- Next step
- Save the trial, show it to the treating physician, and confirm current recruitment with the study center. Costs, documents and travel →
Unsure about the terms? Read our patient guide →
Overview
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.
Detailed description
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.
Interventions
- Diagnostic test Buccal swab
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. - Diagnostic test EDTA Blood sample (4.9mL)
Genetic testing of potentially relevant genetic variants using the DNA extracted from the EDTA blood sample. - Diagnostic test Serum sample (7.5mL)
blood sample to determine the actual levels of the compound in patients on medication assumed to be associated to an observed ADR (phenotype). - Other communication of test results
Certified study pharmacist evaluates and communicates clinically relevant test results to the subject and to the responsible physician - Other unstructured interview
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 outcome measures
- pharmacogenetic profile [Time frame: single time point assessment at Baseline (=Day 0)]
Eligibility criteria
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
Criteria are shown verbatim from the registry (in English). Final eligibility is always assessed by the study center.
Healthy volunteers: Yes
Study design
- Observational model
- Cohort
Study locations
Switzerland · 1 center
- Department of Pharmaceutical Sciences, University Basel — Basel
Publications
- Bollinger A, Jeiziner C, Meyer Zu Schwabedissen HE, Hersberger KE, Allemann SS, Stauble CK. Severe systemic adverse reactions to ophthalmic timolol in a CYP2D6 homozygous *4 allele carrier: a case report. Pharmacogenomics. 2023 Sep;24(14):739-746. doi: 10.2217/pgs-2023-0122. Epub 2023 Sep 15. PMID 37712172
Identifiers
NCT: NCT04154553 · 2019-01452; ex19Hersberger