The role of glutamate and GABA in cognition in subjects with chromosome 22q11.2 copy number variants

The role of glutamate and GABA in cognition in subjects with chromosome 22q11.2 copy number variants - Glutamate, GABA and cognition in subjects with 22q11.2 CNVs

Status

Recruiting

Phases

Unknown

Study type

Observational

Source

NL-OMON

Registry ID

NL-OMON52428

Enrollment

Registered

2020-07-22

Start date

2021-05-11

Completion date

Unknown

Last updated

2024-09-02

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

Conditions

DiGeorge syndrome Velo-Cardio facial syndrome (VCFS)

Interventions

None listed

Eligibility

Age

16 Years to 99 Years

Inclusion criteria

Inclusion criteria: For participants with 22q11.2 CNVs: • Confirmed diagnosis of 22q11.2 CNVs established by FISH, microarray or MLPA analysis. • Age 16 and older and mentally competent to give informed consent. • No presence of a physical/medical condition that may interfere with the study. • No contraindication for MRI. For healthy controls: • Healthy subjects will be matched for age and gender. • No presence of a physical/medical condition that may interfere with the study. • No contraindication for MRI

Exclusion criteria

Exclusion criteria: For participants with 22q11.2CNVs: • Other chromosomal abnormalities • Current substance abuse / dependence • Comorbid psychiatric / neurological disorder • Pregnancy • For the optional dopamine transporter study, subjects are excluded that participated in a research project in which they received a radiation burden in the past year, and when they use medication that occupies the dopamine transporter. For healthy controls: • Any chromosomal abnormalities • Current substance abuse / dependence • A psychiatric or neurologic disorder • Pregnancy • For the optional dopamine transporter study, subjects are excluded that participated in a research project in which they received a radiation burden in the past year, and when they use medication that occupies the dopamine transporter

Design outcomes

Primary

Measure	Time frame
- Glutamate and GABA concentrations in the anterior cingulate cortex as measured with 1H MRS. - Cognitive functioning measured with a standardized cognitive battery (CNB).	—

Secondary

Measure	Time frame
Neuromelanine, which is regarded an indirect measure for dopamine and noradrenaline, will be assessed in the substantia nigra (SN) and locus coeruleus (LC) using a neuromelanine sensitive MRI sequence (NM-MRI) as an additional explorative measure in this study. Neuromelanin measured in the SN and LC with specific neuromelanin MRI has been suggested to be a biomarker for psychotic disorders and Parkinson*s disease (34,35). A secondary outcome measurement of the optional dopamine transporter SPECT study is striatal dopamine transporter binding.	—

Measure

Time frame

Neuromelanine, which is regarded an indirect measure for dopamine and noradrenaline, will be assessed in the substantia nigra (SN) and locus coeruleus (LC) using a neuromelanine sensitive MRI sequence (NM-MRI) as an additional explorative measure in this study. Neuromelanin measured in the SN and LC with specific neuromelanin MRI has been suggested to be a biomarker for psychotic disorders and Parkinson*s disease (34,35). A secondary outcome measurement of the optional dopamine transporter SPECT study is striatal dopamine transporter binding.

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Countries

Netherlands

Outcome results