Primary objective: To classify the effect of the pharmacogenetic profile of CYP2C19 and CYP2D6 in HD gene expansion carriers on negative medication effects of HD-related medication with an actionable drug-gene interaction in the…
ID
Source
Brief title
Condition
- Movement disorders (incl parkinsonism)
Synonym
Health condition
Huntington's Disease
Research involving
Sponsors and support
Intervention
Outcome measures
Primary outcome
Secondary outcome
o Number of prescription drug discrepancies between the official pharmacy medication verification scheme and the patient-reported medication diary for the HD-MED follow-up period.
Exploratory outcome:
o Genetic variants associated with extra-ordinary side effect profiles or lack of medication response.
Background summary
Study objective
To classify the effect of the pharmacogenetic profile of CYP2C19 and CYP2D6 in HD gene expansion carriers on negative medication effects of HD-related medication with an actionable drug-gene interaction in the corresponding CYP genes. Negative medication effects are classified as non-response or side effects of the prescribed drug, which lead to definite prescription changes in that drug. Definite prescription changes are classified as; discontinuation of the drug, switching to another type of drug or adding another drug to treat the same symptom.
Secondary objectives:
o To assess and categorize current detailed medication use in HD gene expansion carriers.
o To determine the eligibility of a one-year medication diary compared to pharmacy medication history surveys in HD patients.
Explorative objectives:
o To explore the effect of the pharmacogenetic profile of CYP2C19 and CYP2D6 in HD gene expansion carriers who use HD-related medication and who either use a relatively low or a relatively high drug dose with regard to the symptom the drug is prescribed for.
o To explore associations between genetic variants and extra-ordinary side effect profiles or lack of medication response in HD gene expansion carriers.
Study design
Inclusion period: 2.5 years Follow-up period: 1 year
Age
Inclusion criteria
In order to be eligible to participate in this study, a subject must meet all of the following criteria: - A capacitated individual, aged ≥ 18 years. - Genetically confirmed CAG-repeat expansion of ≥ 36 in the HTT gene. - Either about to start with prescribed medication related to HD or already using one or more HD related drugs. HD-related drugs are drugs considered to treat symptoms that either are related to manifest HD or are prescribed in pre-motor manifest or prodromal HD stage for symptoms that may be attributed to HD. - Sufficient knowledge of the Dutch language to understand the subject information letter and sign the informed consent form.
Exclusion criteria
A potential subject who meets any of the following criteria will be excluded from participation in this study: - Any medical condition, in the view of the investigator, which might endanger subject’s safety and/or satisfactory participation in the study.
Design
Recruitment
IPD sharing statement
metc-ldd@lumc.nl
Followed up by the following (possibly more current) registration
Other (possibly less up-to-date) registrations in this register
No registrations found.
In other registers
| Register | ID |
|---|---|
| NTR-new | NL8251 |
| Other | Medical Ethical Committee LDD (Leiden - Den Haag - Delft) : METC058 |
| CCMO | NL70391.058.19 |
| OMON | NL-OMON55123 |