RecruitingNCT05304195

Exploration of GCase Activity to Identify a Subpopulation Eligible for a Therapeutic Trial in Dementia With Lewy Bodies

Exploration of Glucocerebrosidase Activity to Identify a Subpopulation Eligible for a Therapeutic Trial in Dementia With Lewy Bodies


Sponsor

Assistance Publique - Hôpitaux de Paris

Enrollment

236 participants

Start Date

Feb 17, 2023

Study Type

OBSERVATIONAL

Conditions

Summary

This research focuses on the activity of an enzymatic protein: glucocerebrosidase, in dementia with lewy bodies (DLB). Indeed, the mutation of the GBA gene responsible for a decrease in the activity of glucocerebrosidase is the most frequent known genetic risk factor in DLB. However, mutations of the GBA gene are known in another pathology, Gaucher disease, in which treatments have been developed. The objective of this research is to determine if glucocerebrosidase activity is decreased in DLB. This hypothesis could open up a therapeutic perspective, with treatments already used in Gaucher disease.


Eligibility

Min Age: 50 Years

Inclusion Criteria5

  • Male or female aged ≥ 50 years old
  • Presence of an accompanying person
  • Dementia with lewy bodies according to the revised criteria of Mc Keith 2017
  • Male or female aged ≥ 50 years old
  • Absence of cognitive impairment and clinical element for a neurodegenerative disease

Exclusion Criteria4

  • Other neurodegenerative disease
  • Gaucher disease
  • Neurodegenerative disease
  • Cognitive impairment of all causes

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Interventions

DIAGNOSTIC_TESTGlucocerebrosidase

Blood sample (10ml) for GCase activity

GENETICGBA gene

Blood sample (10ml) for variants or mutations of the GBA gene

DIAGNOSTIC_TESTMacrophage biomarkers

Blood sample (20ml) for macrophage biomarkers


Locations(1)

Centre de neurologie Cognitive

Paris, France, France

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NCT05304195


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