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| Name | Class |
|---|---|
| Toppharm Apotheke Hersberger, Spalenberg 41, CH-4051 Basel | UNKNOWN |
| Universitätskinderspital Zürich, Lenggstrasse 30, 8008 Zürich | UNKNOWN |
| Institut für Spitalpharmazie, Solothurner Spitäler AG, Baslerstrasse 150, 4600 Olten |
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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.
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.
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| Name | Type | Description | Arm Group Labels | Other Names |
|---|---|---|---|---|
| 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 | ||
| Measure | Description | Time Frame |
|---|---|---|
| pharmacogenetic profile | genotyping by laboratory analysis of approximately 100 pharmacological relevant genetic variations (polymorphisms) in over 30 different genes | single time point assessment at Baseline (=Day 0) |
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Inclusion Criteria:
Exclusion Criteria:
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The patient population are patients experiencing TF and/or ADRs with substances known to be affected by genetic variants that influence their drug metabolism (pharmacokinetics) and/or the activity of the drug target (pharmacodynamics).
| Name | Role | Phone | Extension | |
|---|---|---|---|---|
| Samuel Allemann, Prof. Dr. | Contact | +41 61 207 61 76 | s.allemann@unibas.ch | |
| Kurt Hersberger, Prof. Dr. | Contact | +41 61 207 1971 | kurt.hersberger@unibas.ch |
| Name | Affiliation | Role |
|---|---|---|
| Kurt Hersberger, Prof. Dr. | Pharmaceutical Care Research Group; Department of Pharmaceutical Sciences, University Basel | Study Chair |
| Samuel Allemann, Prof. Dr. | Pharmaceutical Care Research Group; Department of Pharmaceutical Sciences, University Basel |
| Facility | Status | City | State | ZIP | Country | Contacts |
|---|---|---|---|---|---|---|
| Department of Pharmaceutical Sciences, University Basel | Recruiting | Basel | 4056 | Switzerland |
| PubMed Identifier | Type | Citation | Retractions |
|---|---|---|---|
| 37712172 | Derived | 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. |
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The buccal swab and the extracted DNA are destroyed after two to three weeks after the accomplished labor analysis. The coded ethylenediaminetetraacetic acid (EDTA) blood samples will be stored at -80°C in the Biobank of Biopharmacy Laboratory until further use.
| 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 |
| ID | Term |
|---|---|
| D064420 | Drug-Related Side Effects and Adverse Reactions |
| ID | Term |
|---|---|
| D064419 | Chemically-Induced Disorders |
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