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

Not Applicable

Not yet recruiting

• Conditions: Alzheimer Disease
• Interventions: Other: skin biopsy

• Registration Number: NCT06168955
• Lead Sponsor: Central Hospital, Nancy, France

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.

Detailed Description

Not available

Study Timeline

• Study First Submitted: 2023-12-05
• Study First Submitted QC: 2023-12-05
• Study First Posted: 2023-12-13
• Status Verified: 2024-01
• Last Update Submitted: 2024-01-03
• Last Update Posted: 2024-01-05
• Study Start: 2024-02
• Primary Completion: 2025-12
• Study Completion: 2025-12

Recruitment & Eligibility

• Status: NOT_YET_RECRUITING
• Sex: All
• Target Recruitment: 30

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 & Design

• Study Type: INTERVENTIONAL
• Study Design: FACTORIAL

Arm && Interventions

Group	Intervention	Description
alzheimer's disease patients	skin biopsy	Alzheimer's disease patients with positive biomarkers who started their disease before age 75 and benefited from genetic research.
Control group	skin biopsy	control cell lines from patients free of alzheimer's disease

Primary Outcome Measures

Name	Time	Method
MAP1 homocysteinylation level	Baseline

Secondary Outcome Measures

Name	Time	Method
Homocysteinylation level of tau protein	baseline

Trial Locations

Locations (1)

Centre Hospitalier Régional Universitaire de Nancy; 🇫🇷 Nancy, France