Finding suitable clinical endpoints for ARID1B-related intellectual disability

Completed

Conditions: Coffin-Siris syndrom
intellectual disability
10057167

Registration Number: NL-OMON48746

Lead Sponsor: Centre for Human Drug Research

Brief Summary: Not available

Detailed Description: Not available

Recruitment & Eligibility

Status: Completed

Sex: Not specified

Target Recruitment: 24

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

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.

Study & Design

Study Type: Observational non invasive

Study Design: Not specified

Primary Outcome Measures

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

Secondary Outcome Measures