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

NCT06168955 | Unknown DMC

• 1 other identifier: 2023-A01502-43
• Study Type: interventional
• Target: 30
• Locations: 1 country
• Sites: 1

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.

Conditions

Alzheimer Disease

Keywords

Alzheimer Disease; Genetic; N-homocysteinylation

Outcome Measures

Primary Outcomes (1)

• MAP1 homocysteinylation level

  Baseline

Secondary Outcomes (1)

• Homocysteinylation level of tau protein

  baseline

Study Arms (2)

alzheimer's disease patients

EXPERIMENTAL

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

Other: skin biopsy

Control group

OTHER

control cell lines from patients free of alzheimer's disease

Other: skin biopsy

Interventions

skin biopsy OTHER

skin biopsy for cell culture and N-homocysteinylation study

Control group; alzheimer's disease patients

Eligibility Criteria

• Sex: all
• Healthy Volunteers: No
• Age Groups: Child (0-17), Adult (18-64), Older Adult (65+)

You may qualify if:

• 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.

You may not qualify if:

• Pregnant, parturient or breast-feeding women
• Minor (not emancipated)
• Person of legal age (subject to a legal protection measure)
• Adult unable to give consent

Sponsors & Collaborators

• Central Hospital, Nancy, France: lead

Study Sites (1)

Centre Hospitalier Régional Universitaire de Nancy

Nancy, 54000, France

Location

MeSH Terms

Conditions

Alzheimer Disease

Condition Hierarchy (Ancestors)

Dementia; Brain Diseases; Central Nervous System Diseases; Nervous System Diseases; Tauopathies; Neurodegenerative Diseases; Neurocognitive Disorders; Mental Disorders

Study Officials

• Mathilde Renaud

  Central Hospital Nancy

  PRINCIPAL INVESTIGATOR

Central Study Contacts

Mathilde Renaud

CONTACT

0380425485; cppest1@chlcdijon.fr

Study Design

• Study Type: interventional
• Phase: not applicable
• Allocation: NON RANDOMIZED
• Masking: NONE
• Purpose: OTHER
• Intervention Model: FACTORIAL
• Sponsor Type: OTHER
• Responsible Party: PRINCIPAL INVESTIGATOR
• PI Title: Principal investigator

Study Record Dates

• First Submitted: December 5, 2023
• First Posted: December 13, 2023
• Study Start: February 1, 2024
• Primary Completion: December 1, 2025
• Study Completion: December 1, 2025
• Last Updated: January 5, 2024

Record last verified: 2024-01

Locations

FR (1)