Phase 0 biomarker study: assessment of day-to-day, within-day and inter-individual variability in β-Glucocerebrosidase activity and pathway biomarkers in healthy adults and patients with Parkinson*s disease with heterozygous GBA1-mutations.
- Conditions
- Parkinson's disease10028037
- Registration Number
- NL-OMON56229
- Lead Sponsor
- Centre for Human Drug Research
- Brief Summary
Not available
- Detailed Description
Not available
Recruitment & Eligibility
- Status
- Completed
- Sex
- Not specified
- Target Recruitment
- 20
- Male or female 50-80 years of age at screening (inclusive).
- BMI in the range of 18 - 32 kg/m2.
- for patients: Confirmed clinical diagnosis of Parkinson disease by a
neurologist, based on presence of bradykinesia and either resting tremor and/or
muscular rigidity in at least one limb.
- Significant haematological abnormalities during screening such as anaemia
(haemoglobin level <7.0 mmol/L (males) or <6.0 mmol/L (females)), leukopenia,
or any other significant abnormalities in clinical laboratory test values. A
WBC distribution will be determined to ensure (near) normal WBC distribution as
determined by the investigator.
- Recent participation (<90 days / 5x T1/2) in an interventional study.
- Any other clinically significant neuro-degenerative disorder.
Study & Design
- Study Type
- Observational invasive
- Study Design
- Not specified
- Primary Outcome Measures
Name Time Method <p>- Live Cell GCase activity in whole blood<br /><br>- GCase activity in dried blood spots</p><br>
- Secondary Outcome Measures
Name Time Method <p>- Selected lipids including but not limited to: Glusphing, GluCer, Ceramide,<br /><br>Sphingomyelin and SAA in both plasma and CSF</p><br>