BRAINmodel: Clinical characterization and understanding of excitation/inhibition ratio homeostasis in children with genetic syndromes caused by chromatin- or synapse regulatory factors.

BRAINmodel: Clinical characterization and understanding of excitation/inhibition ratio homeostasis in children with genetic syndromes caused by chromatin- or synapse regulatory factors. - BREIN

Status

Active, not recruiting

Phases

Unknown

Study type

Observational

Source

NL-OMON

Registry ID

NL-OMON53929

Enrollment

Registered

2022-09-26

Start date

2022-12-03

Completion date

Unknown

Last updated

2026-01-27

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

Conditions

autism spectrum disorder monogenetic syndrome

Interventions

None listed

Eligibility

Age

2 Years to 17 Years

Inclusion criteria

Inclusion criteria: - Written informed consent to participate in this study - Molecularly confirmed pathogenic defect in one of the following genes: EHMT1, SETD1A, KMT2A, KMT2C, KMT2D, KDM3B, KDM6B, DNMT3A, (Chromatinopathies) or STXBP1, SYT1, SNAP25, RIMS1 (SNAREopathies) - Age >=5 or

Exclusion criteria

Exclusion criteria: - No molecular confirmed diagnosis of a defect in one of the following genes: EHMT1, SETD1A, KMT2A, KMT2C, KMT2D, KDM3B, KDM6B, DNMT3A (Chromatinopathies) or STXBP1, SYT1, SNAP25, RIMS1 (SNAREopathies). - Additional or larger genetic defects that influence the gene of interest related phenotype - Age =18 years old - Extremely or very preterm birth (

Design outcomes

Primary

Measure	Time frame
Per participant: 1. Neurophysiological profile, including relative and absolute power spectra, mean frequencies, functional excitation/inhibition (fE/I) ratio, measured on different translational levels (clinical EEG measurement and patient-derived IPSC-based models) 2. Metabolic profile (based on medical history, physical examination, blood measures, urine sample, X-hand) 3. Immunlogical profile (based on medical history, physical examination, blood measures) 4. Outcomes of neurocognitive and behavioral measures: Vineland adaptive behavior scale (3rd edition), WISC-V or WPPSI-IV, and PAROM (or alternative tools, depending on the developmental age of the participant) 5. Knowledge on participant-specific medications which are in vitro effective to restore the neuronal E/I balance	—

Measure

Time frame

Per participant: 1. Neurophysiological profile, including relative and absolute power spectra, mean frequencies, functional excitation/inhibition (fE/I) ratio, measured on different translational levels (clinical EEG measurement and patient-derived IPSC-based models) 2. Metabolic profile (based on medical history, physical examination, blood measures, urine sample, X-hand) 3. Immunlogical profile (based on medical history, physical examination, blood measures) 4. Outcomes of neurocognitive and behavioral measures: Vineland adaptive behavior scale (3rd edition), WISC-V or WPPSI-IV, and PAROM (or alternative tools, depending on the developmental age of the participant) 5. Knowledge on participant-specific medications which are in vitro effective to restore the neuronal E/I balance

—

Countries

Netherlands

Outcome results