Clinical trial NCT05793372: Hyperhomocysteinemia in Alzheimer's Disease
Official title: Hyperhomocysteinemia in Alzheimer's Disease
Study type: OBSERVATIONAL
Overall status: NOT_YET_RECRUITING
Conditions: Alzheimer Disease
Homocystinemia
Lead sponsor: Central Hospital, Nancy, France
Sponsor class: OTHER
First posted: 2023-03-31
Enrollment: 43
Sex: ALL
Standard ages: CHILD
ADULT
OLDER_ADULT
Accepts healthy volunteers: no
Observational model: COHORT
Time perspective: OTHER
Sampling method: NON_PROBABILITY_SAMPLE
Study population: Patients with Alzheimer's disease with positive CSF biomarkers, age of onset \< 75 years, and having already benefited from a previous research of Alzheimer's disease genetic features (PSEN1, PSEN2, APP, APOE) and homocysteine cycle (monocarbon metabolism) by complete exome/clinical exome or panel

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.


Eligibility criteria: 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

Primary outcomes:
measure: Correlation between homocysteine levels and the severity/early onset of Alzheimer's disease
timeFrame: baseline
Secondary outcomes:
measure: Evaluation of the frequency of hyperhomocysteinemia in a homogeneous population of patients with Alzheimer's disease.
timeFrame: baseline
measure: Evaluation of the genetic characteristics of Alzheimer's disease Evaluation of the genetic characteristics of homocysteine monocarbon metabolism.
timeFrame: baseline
measure: Evaluation of the frequency of vitamin B deficiencies in a homogeneous population of patients with Alzheimer's disease.
timeFrame: baseline
Other outcomes:
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