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NCT06168955 | Not yet recruiting | Alzheimer Disease


Study of N-homocysteinylation of Key Proteins in Alzheimer's Disease (HO-MA)
Sponsor:

Central Hospital, Nancy, France

Information provided by (Responsible Party):

RENAUD Mathilde

Brief Summary:

Alzheimer's disease (AD) is the leading cause of dementia in France. It is a multifactorial pathology, combining genetic and environmental risk factors. Homocysteine, a sulfur-containing amino acid belonging to the methionine-monocarbon cycle, has frequently been found at high levels in neurodegenerative diseases, and in AD in particular. It has been shown on human brain sections that the interaction of homocysteine with tau and MAP1, two key AD proteins, was significantly higher in AD patients than in controls, and corresponded to an N-homocysteinylation type interaction. This is a prospective study, the main objective of which is to compare MAP1 N-homocysteinylation levels in fibroblasts from individuals with AD versus disease-free cell lines.

Condition or disease

Alzheimer Disease

Intervention/treatment

skin biopsy

Phase

Not Applicable

Study Type : Interventional
Estimated Enrollment : 30 participants
Masking : None (Open Label)
Primary Purpose : Other
Official Title : Study of N-homocysteinylation of Key Proteins in Alzheimer's Disease
Actual Study Start Date : February 2024
Estimated Primary Completion Date : December 2025
Estimated Study Completion Date : December 2025
Arm Intervention/treatment

Experimental: alzheimer's disease patients

Alzheimer's disease patients with positive biomarkers who started their disease before age 75 and benefited from genetic research.

Other: skin biopsy

Other: Control group

control cell lines from patients free of alzheimer's disease

Other: skin biopsy

Ages Eligible for Study:
Sexes Eligible for Study: All
Accepts Healthy Volunteers: No
Criteria
Inclusion Criteria
  • age > 18 years
  • Age of onset of AD < 75 years
  • Person with AD with positive CSF biomarkers
  • Person who has previously benefited from an analysis of AD genetic characteristics (APP, PSEN1, PSEN2, TREM2, ABCA7, SORL1 genes and ApoE status) and an analysis of monocarbon metabolism genes in the case of biochemical abnormalities by clinical exome, targeted panel or complete exome, and for whom the data set is already available.
Exclusion Criteria
  • Pregnant, parturient or breast-feeding women
  • Minor (not emancipated)
  • Person of legal age (subject to a legal protection measure)
  • Adult unable to give consent

Study of N-homocysteinylation of Key Proteins in Alzheimer's Disease (HO-MA)

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Study of N-homocysteinylation of Key Proteins in Alzheimer's Disease (HO-MA)

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Locations


Not yet recruiting

France,

Nancy Regional University Hospital Center

Nancy, France, 54000

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