* To determine the relationship between phenotypic and genetic characteristics of GBA-PD patients. Phenotypic characteristics will be obtained by patient dossier review. Genetic characteristics comprise of the GBA1 gene and a panel of SNPs,…
ID
Source
Brief title
Condition
- Movement disorders (incl parkinsonism)
Synonym
Research involving
Sponsors and support
Intervention
Outcome measures
Primary outcome
Based on multiple parameters, the following compound measurements are
constructed:
- Parkinson*s disease * Progression Rate Inventory (PD-PRI)
- GBA1 genotype and PD associated SNPs
- Parkinson*s Risk Score (PRS)
- Rate of disease progression as rated by a clinical expert: Slow,
Intermediate, Fast
The endpoints are the analyses of the associations between:
* genetic factors and phenotypic factors
* genetic factors and the rate of disease progression as rated by a Movement
Disorder Neurologist
* genetic factors and a data-driven algorithm based on phenotypic
characteristics
Secondary outcome
N.A.
Background summary
The current protocol is a follow-up on the previous study CHDR1707 (Toetsing
online number: NL61137.056.17), titled *Genetic screening in Parkinson*s
Disease in order to identify patients who can participate in clinical trials
with new targeted therapies.* In this previous study, Parkinson*s patients
throughout the Netherlands were genetically screened for presence of mutations
in the GBA1 gene and LRRK2 gene. In approximately 15% of all screened patients,
a mutation was found in the GBA1 gene (Figure 1). The current protocol aims to
further characterize this subgroup of patients with a GBA1 mutation, based on
phenotype, as assessed by medical history, and on genotype, as assessed by
Parkinson*s disease related Single Nucleotide Polymorphism (SNP) analysis. The
goal of this study is to exploratively investigate whether clinical and genetic
factors may contribute to the rate of clinical progression in patients with
Parkinson*s disease associated with a GBA1 mutation in the gene encoding GCase
(GBA-PD).
Study objective
* To determine the relationship between phenotypic and genetic characteristics
of GBA-PD patients. Phenotypic characteristics will be obtained by patient
dossier review. Genetic characteristics comprise of the GBA1 gene and a panel
of SNPs, previously associated with risk or progression of idiopathic
Parkinson*s disease.
* To determine the correlation between genetic characteristics (as described
above) and the estimated disease progression rating (Fast, Intermediate, Slow)
by a Movement Disorders Neurologist, based on retrospective phenotypic
characteristics (as described above).
o Inter-rater correlation between Movement Disorders Neurologists will be
determined.
* To determine the correlation between genetic characteristics (as described
above) and a data-driven algorithm based on phenotypic characteristics (as
described above).
Study design
This will be an exploratory retrospective medical history review and genetic
analysis study in previously identified GBA-PD patients from a number of
clinics in the Netherlands.
GBA-PD patients from the following 5 clinics will be enrolled in the present
study: Amsterdam UMC location AMC, LUMC, St. Antonius ziekenhuis, Spaarne
Gasthuis and UMCG. Patients will provide informed consent for clinical history
review and further genetic analyses (in addition to the already known GBA1
mutation).
Study burden and risks
The burden/inconvenience for the patient is minimal and the information we
obtain can be very valuable for further research.
Blackstone St 19
Cambridge MA 02139
NL
Blackstone St 19
Cambridge MA 02139
NL
Listed location countries
Age
Inclusion criteria
1. Signed informed consent prior to any study-mandated procedure.
2. Minimum age of 18 years.
3. Clinical diagnosis of Parkinson*s disease at least 6 months prior to screening, confirmed by a Movement Disorder*s Neurologist.
4. Mutation(s) in the glucocerebrosidase GBA1 gene. Reference Appendix A for a list of GBA1 mutations.
Exclusion criteria
N.A.
Design
Recruitment
Followed up by the following (possibly more current) registration
No registrations found.
Other (possibly less up-to-date) registrations in this register
In other registers
| Register | ID |
|---|---|
| CCMO | NL67297.056.18 |