Finding suitable clinical endpoints for ARID1B-related intellectual disability

Finding suitable clinical endpoints for ARID1B-related intellectual disability - Endpoints in ARID1B patients

Status

Active, not recruiting

Phases

Unknown

Study type

Observational

Source

NL-OMON

Registry ID

NL-OMON48746

Enrollment

Registered

2018-11-22

Start date

2018-11-22

Completion date

Unknown

Last updated

2024-04-15

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

Conditions

Coffin-Siris syndrom intellectual disability

Interventions

None listed

Eligibility

Age

2 Years to 99 Years

Inclusion criteria

Inclusion criteria: ARID1B group - Informed consent provided by both parents or the legal guardian prior to any study-mandated procedure. - Known mutation in ARID1B. - Assent provided by the participant. Healthy control subjects - Informed consent provided by both parents or the legal guardian if aged 11 years or younger. - Informed consent provided by both parents or the legal guardian, and the participant if aged 12 up and till 15 years. - Informed consent provided by the participant if aged 16 years or older.

Exclusion criteria

Exclusion criteria: Clear indication of not wanting to participate during the study Use of drugs, benzodiazepines or any other medication or drug with the potential to influence study related endpoints in the investigator*s opinion.;Healthy control subjects: - Presence of intellectual disability.

Design outcomes

Primary

Measure	Time frame
CNS tests, CHDR All subjects: - Saccadic eye movements - Body sway - Resting state electroencephalography - Task based EEG Visual evoked potential Auditory steady state response Passive auditory mismatch negativity Group 2-4 (Subjects > age 4) - Adaptive tracking - Finger tapping - Smooth pursuit eye movement - Task based EEG Active auditory mismatch negativity - Memory tests Animal fluency test Stroop-like day-night test Wearables, trial@home All subjects: - 6-day physical activity, heart rate, sleep (Nokia Steel HR) - 6-day questionnaire	—

Measure

Time frame

CNS tests, CHDR All subjects: - Saccadic eye movements - Body sway - Resting state electroencephalography - Task based EEG Visual evoked potential Auditory steady state response Passive auditory mismatch negativity Group 2-4 (Subjects > age 4) - Adaptive tracking - Finger tapping - Smooth pursuit eye movement - Task based EEG Active auditory mismatch negativity - Memory tests Animal fluency test Stroop-like day-night test Wearables, trial@home All subjects: - 6-day physical activity, heart rate, sleep (Nokia Steel HR) - 6-day questionnaire

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Countries

Netherlands

Outcome results