Observational study of genetic variants in neurodevelopmental disorders

Is this trial a fit for you?

A plain-English reading of the study's rules. Only the study team can confirm whether you qualify.

What this trial studies

This study aims to analyze patterns in individuals with specific genetic variants associated with neurodevelopmental disorders, including autism and intellectual disabilities. It will maintain an ongoing database of medical data collected during routine care and gather prospective data through questionnaires, neuropsychological assessments, and electroencephalography. The focus is on understanding the neurological comorbidities and treatment outcomes related to these genetic variants. The study will include individuals with confirmed variants in any gene presenting with neurodevelopmental abnormalities.

Why it matters

Who can join: the full rules

Inclusion Criteria:

* Individuals must have had whole genome/exome sequencing and have a confirmed variant in any gene.

Exclusion Criteria:

* Subjects who cannot provide genetic confirmation of a predicted deleterious variant in any gene.

Where it's running

• Columbia University Irving Medical Center
  New York, New York, United States Recruiting

Study contacts

• Principal investigator: Jennifer M. Bain, MD, PhD — Columbia University
• Study coordinator: Jennifer M. Bain, MD, PhD
• Email: jb3634@cumc.columbia.edu
• Phone: 646-426-3876

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How to take part

1. Review the eligibility criteria above with your treating physician.
2. Check the official listing on ClinicalTrials.gov for the latest contact details and recruitment status.
3. Contact the study coordinator or principal investigator to ask for pre-screening. Pre-screening is free and never obligates you to enroll.