Parkinsons disease
Conditions
Interventions
None listed
Sponsors
BIAL R&D INVESTMENTS, S.A
Eligibility
Age
18 Years to 99 Years
Inclusion criteria
Inclusion criteria: Cohort A Group 1 (healthy volunteers) 1. Male or female 18 * 55 years of age at screening (inclusive) 2. BMI in the range of 18 * 32 kg/m2. Cohort B Group 1 (healthy volunteers) 1. Male or female 18 * 65 years of age at screening (inclusive) 2. BMI in the range of 18 * 32 kg/m2. Cohort A and B Group 2 and 3 (PD-GBA+ and PD-GBA-) 3. Confirmed clinical diagnosis of Parkinson disease by a qualified neurologist. 4. Hoehn and Yahr stage I-IV, inclusive 5. Male or female of 30-85 years of age at screening (inclusive) 6. BMI in the range of 18 * 32 kg/m2. 7. PD-GBA+ group (2): confirmed presence of GBA1 mutation via (historic) genotyping 8. PD-GBA- group (3): confirmed absence of GBA1 mutation via (historic) genotyping Groups 1, 2 and 3 9. Able to speak, read, and understand study procedures in Dutch sufficiently to allow completion of all study assessments. 10. Must understand and provide written informed consent prior to the initiation of any protocol-specific procedures. 11. Willing and able to maintain stable doses and regimens for all medications, herbal treatments, medical marijuana, dietary supplements and caffeine intake from the screening visit through the last study visit. 12. Willing and able to abstain from alcohol 24 hours prior to all study procedures at study visits 1, 2 and 3. 13. Women of childbearing potential must use a form of birth control (e.g. oral contraceptive, condom use, IUD, abstinence of hetero-sexual intercourse)
Exclusion criteria
Exclusion criteria: Group 1 and 2 and 3 1. Significant haematological abnormalities during screening such as anaemia, leukopenia, (haemoglobin level 500mL whole blood) in the past 30 days. 5. Recent infection with hospital admission (35C to *38C b. systolic blood pressure, >90 to *160 mm Hg c. diastolic blood pressure, >40 to *95 mm Hg d. pulse rate, >40 to *100 bpm 9. Positive serology for human immunodeficiency virus (HIV), hepatitis B virus (HBV) (positive hepatitis B core antibody [anti-HBc] with negative hepatitis B DNA is acceptable), or hepatitis C virus (HCV) (treated/resolved hepatitis C with negative polymerase chain reaction [PCR] RNA is allowed) 10. Any other issue that, in the opinion of the investigator, would make the participant ineligible for study participation Group 1 11. Clinical evidence or history of Parkinson disease, parkinsonism or Gaucher disease 12. First order relative with Parkinson disease or Gaucher disease 13. Any historyof unstable or poorly controlled psychiatric, endocrine, pulmonary, cardiovascular, gastrointestinal, hepatic, pancreatic, renal, metabolic, hematologic, immunologic, or allergic disease, or other major disorders. Well-controlled conditions are permitted if investigator and Sponsor agree.
Design outcomes
Primary
| Measure | Time frame |
|---|---|
| Day-to-day variability (%CV) of: * Glucocerebrosidase and galactocerebrosidase activity (in Dried blood spots) * Acid ceramidase activity (in PBMCs) * Glucosylsphingosine concentration (in granulocytes) * Ceramide and dihydroceramide concentrations (in lymphocytes) | — |
Secondary
| Measure | Time frame |
|---|---|
| Within-a-day variability (%CV) of: * Glucocerebrosidase and galactocerebrosidase activity (in Dried blood spots) * Acid ceramidase activity (in PBMCs) * Glucosylsphingosine concentration (in granulocytes) * Ceramide and dihydroceramide concentrations (in lymphocytes) Between subject variability (%CV) of: * Glucocerebrosidase and galactocerebrosidase activity (in Dried blood spots) * GCase activity (in PBMCs) * Acid ceramidase activity (in PBMCs) * Glucosylsphingosine concentration (in granulocytes) * Ceramide and dihydroceramide concentrations (in lymphocytes) * Glucosylsphingosine, ceramide and dihydroceramide concentrations (in plasma) * Glucosylceramide and lactosylceramide concentrations (in lymphocytes) * Metabolic profile (in plasma) * Metabolic flux through ceramide, dihydroceramide, glucosylceramide, lactosylceramide, and sphingomyelin (in lymphocytes) | — |
Countries
Netherlands
Outcome results
None listed