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Information for Parents
What is a natural history study?
A natural history study is a type of research that tracks how a condition or disorder develops and changes over time. For ARID1B-Related Disorder (ARID1B‑RD), this study helps researchers understand the condition’s effects on development, behavior, and health. The goal is to observe your child without altering their medical treatment, allowing us to gather information that can guide future research, treatments, and clinical trials.
What is my benefit?
By participating in this study, you will- receive detailed assessments of your child’s development, communication, and behavior at no cost.
- gain access to personalized feedback and reports, highlighting your child’s strengths and areas where support may be helpful.
- contribute to advancing research that may lead to better treatments and care for ARID1B‑RD, benefiting other families now and in the future.
Who can participate in the study?
This study is open to children and teenagers (ages 2–18) diagnosed with ARID1B‑RD. To confirm eligibility, we will request the results of a genetic test that verifies the diagnosis. If you are unsure about your child’s eligibility, please contact the study site nearest to you for assistance.
Where will the study take place?
The study will take place at seven sites that are part of the CARE4ARID1B consortium. These sites are located in Stockholm (Sweden), Düsseldorf (Germany), Istanbul (Turkey), Verona (Italy), Lyon (France), Montreal (Canada), and Jerusalem (Israel). Many parts of the study, such as interviews and questionnaires, can be completed remotely to minimize travel requirements. To support your participation, travel costs, including transportation and parking, will be covered.
Why is it important for researchers, clinicians and families?
This study provides researchers and clinicians with- a deeper understanding of how ARID1B‑RD affects development over time.
- information to improve diagnostic tools and create benchmarks for clinical care.
- essential data for designing future clinical trials aimed at finding effective treatments.
What will the study involve?
The study spans two and a half years and includes:- Initial Assessment (First Visit): A detailed evaluation lasting about 5-6 hours, which can be split over two days if needed. This includes medical exams, psychological tests, brain activity (EEG; optional), vision and hearing checks, and a small blood sample.
- At-Home Activities: Every six weeks, you’ll complete short surveys, audio recordings, and activity tracking using provided tools.
- Regular Check-Ins: Every six months (or yearly for older children), you’ll attend shorter clinic visits or complete interviews and questionnaires remotely.
- Final Assessment: Similar to the initial visit, this will revisit key evaluations to track changes.