Adverse Drug Reaction, Therapy Failure
Conditions
Keywords
pharmacogenetics, single nucleotide polymorphism, absorption, distribution, metabolism and excretion (ADME), genotyping, pharmacogenetic testing
Brief summary
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_TESTBuccal 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_TESTEDTA Blood sample (4.9mL)
Genetic testing of potentially relevant genetic variants using the DNA extracted from the EDTA blood sample.
DIAGNOSTIC_TESTSerum 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).
OTHERcommunication of test results
Certified study pharmacist evaluates and communicates clinically relevant test results to the subject and to the responsible physician
OTHERunstructured 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
Sponsors
Toppharm Apotheke Hersberger, Spalenberg 41, CH-4051 Basel
Universitätskinderspital Zürich, Lenggstrasse 30, 8008 Zürich
Institut für Spitalpharmazie, Solothurner Spitäler AG, Baslerstrasse 150, 4600 Olten
University Hospital, Basel, Switzerland
Study design
Observational model
COHORT
Time perspective
PROSPECTIVE
Eligibility
Sex/Gender
ALL
Age
2 Years to No maximum
Healthy volunteers
Yes
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
Design outcomes
Primary
| Measure | Time frame | Description |
|---|---|---|
| pharmacogenetic profile | 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 |
Countries
Switzerland
Contacts
Primary ContactSamuel Allemann, Prof. Dr.
Backup ContactKurt Hersberger, Prof. Dr.
Outcome results
None listed