NCT04154553

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

• Status: Recruiting
• Phase: —
• Study type: Observational
• Enrollment: 400 (estimated)
• Sponsor: University Hospital, Basel, Switzerland · Academic / Other
• Sex: All
• Age: 2 Years
• Healthy volunteers: Accepted

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.

Conditions

• Adverse Drug Reaction
• Therapy Failure

Interventions

Type	Name	Description
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

Timeline

• Start date: 2019-10-15
• Primary completion: 2026-08-01
• Completion: 2026-08-01
• First posted: 2019-11-06
• Last updated: 2025-05-14

Locations

1 site across 1 country: Switzerland