Clinical implications of neuropharmacogenetics

Corvol, Jean‐Christophe; Devos, David; Hulot, Jean‐Sébastien; Lacomblez, Lucette

doi:10.1016/j.neurol.2015.04.003

Cited by 3 publications

(1 citation statement)

References 169 publications

(87 reference statements)

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“…Pharmacogenetics is the study of individual genetic differences affecting medication response, in terms of efficacy and side effects. 9 Individuals are categorized into distinct genotype-predicted phenotype groups for a given actionable drug–gene combination; poor metabolizer (PM), intermediate metabolizer (IM), normal metabolizer (NM), or ultra-rapid metabolizer (UM). The Clinical Pharmacogenetics Implementation Consortium (CPIC) and the Dutch Pharmacogenetics Working Group (DPWG), part of the Royal Dutch Pharmacist’s Association (KNMP) are world leading in developing PGx guidelines.…”

Section: Introductionmentioning

confidence: 99%

Study protocol of the HD-MED study aiming to personalize drug treatment in Huntington’s disease: a longitudinal, observational study to assess medication use and efficacy in relation to pharmacogenetics

Feleus,

van der Lee,

Swen

et al. 2023

Therapeutic Advances in Rare Disease

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Background: Huntington’s disease (HD) is a hereditary, neurodegenerative disorder characterized by motor, cognitive, and psychiatric symptoms. Currently, HD can only be managed symptomatically, including a large variety of prescribed drugs. Many HD patients experience negative medication effects (e.g. side effects or non-response). Pharmacogenetic (PGx) studies show how genetic variation affects both medication efficacy and toxicity and holds the potential to improve these outcomes of drug treatment. Primary objective: To classify the effect of the PGx profile of CYP2C19 and CYP2D6 in HD gene expansion carriers on negative medication effects of HD-related medication. Design: Multicenter, observational study with 1-year follow-up. Adult HD gene expansion carriers who use one or more HD-related medications are eligible to participate. Methods and analysis: A detailed overview of medication use, medication efficacy, and side effects is retrospectively and prospectively collected via medication diaries, questionnaires, phone calls, and pharmacy medication verification schemes. PGx analysis on whole blood-extracted DNA is performed with Agena Bioscience VeriDose® Core Panel and long-range polymerase chain reaction copy number variation analysis. Per the study protocol-defined negative medication effects in HD gene expansion carriers with a genotype predicted poor or ultrarapid metabolizer phenotype will be compared with HD gene expansion carriers with a predicted intermediate and normal metabolizer phenotype. Frequencies will be analyzed via χ2 and logistic multivariate regression analysis. In addition, we summarize in this manuscript HD-relevant PGx prescription recommendations to improve drug therapy. Ethics: The original study protocol was approved by the medical research ethics committee Leiden Den Haag Delft on 26 November 2019. Discussion: HD-MED is a low-risk study that will generate personalized PGx results that can immediately be implemented in clinical practice, thus potentially improving pharmacovigilance and patients’ quality of life. Registration: This study is registered in the International Clinical Trial Registry Platform under registration number NL8251, URL https://trialsearch.who.int/Trial2.aspx?TrialID=NL8251 .

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Section: Introductionmentioning

confidence: 99%

Study protocol of the HD-MED study aiming to personalize drug treatment in Huntington’s disease: a longitudinal, observational study to assess medication use and efficacy in relation to pharmacogenetics

Feleus,

van der Lee,

Swen

et al. 2023

Therapeutic Advances in Rare Disease

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Pharmacogenomics and pharmacoepigenomics: Impact on therapeutic strategies

Soni

Maheshwari

et al. 2020

The Future of Pharmaceutical Product Development and Research

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Pharmacodynamic Monitoring of Antiepileptic Drug Therapy

Brandt¹

2019

Therapeutic Drug Monitoring

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Epilepsy is characterized by seizures recurring at interindividually differing time intervals. It may be difficult to assess drug response if time intervals between seizures are long. Thus, the existence of surrogate parameters that could be used to reliably identify drug efficacy and tolerability at an early stage and also as prognostic factors would be desirable. Electroencephalography, magnetic resonance imaging, and genetic markers are the domains to be assessed in this respect. The availability of clinically useful pharmacodynamic parameters is, however, currently disappointing.

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Clinical implications of neuropharmacogenetics

Cited by 3 publications

References 169 publications

Study protocol of the HD-MED study aiming to personalize drug treatment in Huntington’s disease: a longitudinal, observational study to assess medication use and efficacy in relation to pharmacogenetics

Study protocol of the HD-MED study aiming to personalize drug treatment in Huntington’s disease: a longitudinal, observational study to assess medication use and efficacy in relation to pharmacogenetics

Pharmacogenomics and pharmacoepigenomics: Impact on therapeutic strategies

Pharmacodynamic Monitoring of Antiepileptic Drug Therapy

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