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Hyperhomocysteinemia in Alzheimer's Disease

Hyperhomocysteinemia in Alzheimer's Disease

Status
Not yet recruiting
Phases
Unknown
Study type
Observational
Source
ClinicalTrials.gov
Registry ID
NCT05793372
Acronym
Hcy-MA
Enrollment
43
Registered
2023-03-31
Start date
2023-06-30
Completion date
2026-03-01
Last updated
2023-05-17

For informational purposes only — not medical advice. Sourced from public registries and may not reflect the latest updates. Terms

Conditions

Alzheimer Disease, Homocystinemia

Brief summary

Alzheimer's disease (AD) is the most common neurodegenerative disease. Age is its main risk factor. AD is a multifactorial disease, combining genetic and environmental risk factors. Autosomal dominant mutations have been identified (PSEN1, PSEN2, APP), leading to earlier and more severe forms of the disease. Other genetic risk factors have been identified, such as the ε4 allele of the APOE gene. . The environment also plays a major role, with the identification of several risk factors such as air pollution or nutritional deficiencies. AD patients frequently present hyperhomocysteinemia, a consequence of a dysfunction of monocarbon metabolism. Homocysteine is an amino acid involved in the metabolism of methionine and cysteine. High concentrations of homocysteine can be deleterious to the central nervous system. Most prospective studies have shown that elevated homocysteine is a predictor of undefined cognitive impairment or AD. Other studies have focused on clinical data and, in particular, on cognitive function. For example, a meta-analysis found an inverse correlation between MMSE score and homocysteine level. Thus, our study seeks to evaluate the impact of hyperhomocysteinemia on the severity and early onset of AD, while knowing the presence or absence of genetic risk factors associated with AD.

Interventions

OTHERRetrospective study of clinical features

Retrospective study of clinical features

Sponsors

Central Hospital, Nancy, France
Lead SponsorOTHER

Study design

Observational model
COHORT
Time perspective
OTHER

Eligibility

Sex/Gender
ALL
Healthy volunteers
No

Inclusion criteria

* Clinical diagnosis of Alzheimer's disease * Positive CSF biomarkers * age of onset \< 75 years * already benefited from a previous research of Alzheimer's disease genetic features (PSEN1, PSEN2, APP, APOE) * already benefited from a previous research of homocysteine cycle (monocarbon metabolism) by complete exome/clinical exome or panel

Exclusion criteria

* patient refusal

Design outcomes

Primary

MeasureTime frameDescription
Correlation between homocysteine levels and the severity/early onset of Alzheimer's diseasebaselineMesure of homocysteine levels Mesure of MiniMental State Evaluation (MMSE), age of symptoms onset

Secondary

MeasureTime frameDescription
Evaluation of the frequency of hyperhomocysteinemia in a homogeneous population of patients with Alzheimer's disease.baselinemeasurement of homocysteine levels in our cohort (µmol/L)
Evaluation of the genetic characteristics of Alzheimer's disease Evaluation of the genetic characteristics of homocysteine monocarbon metabolism.baselinesearch for an autosomal dominant mutation (APP, PSEN1 or PSEN2) or a risk factor mutation for Alzheimer's disease (TREM2, SORL1, ABCA7) and APOE status search for a mutation in the genes of monocarbon metabolism
Evaluation of the frequency of vitamin B deficiencies in a homogeneous population of patients with Alzheimer's disease.baselinemeasurement of B1,B6,B9 and B12 levels in our cohort (nmol/L)

Outcome results

None listed

Source: ClinicalTrials.gov · Data processed: Feb 4, 2026