Observational study of genetic variants in neurodevelopmental disorders
Neurogenetic Disorders: A Longitudinal Study on Natural History and Intervention Strategies
This study looks at how certain genetic changes affect people with neurodevelopmental disorders like autism and intellectual disabilities to better understand their treatment and related health issues.
Quick facts
| Study type | Observational |
|---|---|
| Enrollment | 1000 (estimated) |
| Sex | All |
| Sponsor | Columbia University Academic / other |
| Locations | 1 site (New York, New York) |
| Trial ID | NCT03492060 on ClinicalTrials.gov |
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.
Who should consider this trial
Good fit: Ideal candidates are individuals with confirmed genetic variants linked to neurodevelopmental disorders.
Not a fit: Patients without a confirmed genetic variant or those unable to provide genetic confirmation may not benefit from this study.
Why it matters
Potential benefit: If successful, this study could enhance understanding of neurodevelopmental disorders and improve patient management strategies.
How similar studies have performed: Other studies have shown success in understanding genetic contributions to neurodevelopmental disorders, making this approach promising.
Eligibility criteria
Show full inclusion / exclusion criteria
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 this trial is running
New York, New York
- 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
How to participate
- Review the eligibility criteria above with your treating physician.
- Visit the official trial page on ClinicalTrials.gov for the most current contact information and recruitment status.
- Contact the listed study coordinator or principal investigator to request pre-screening. Pre-screening is free and never obligates you to enroll.