Longitudinal Study of Neurogenetic Disorders

Launched by COLUMBIA UNIVERSITY · Apr 2, 2018

Keywords

ClinConnect Summary

This clinical trial, called the Longitudinal Study of Neurogenetic Disorders, aims to better understand how certain genetic changes affect individuals with neurodevelopmental disorders, such as autism, intellectual disabilities, and seizures. Researchers are particularly interested in a specific type of genetic variant called hnRNP, along with other related genetic changes. They will gather information from patients' medical records and ask participants to fill out questionnaires and undergo various assessments to learn more about their conditions and any treatments they may be receiving.

To join this study, participants need to have undergone whole genome or exome sequencing, which is a test that looks at all their genes, and have a confirmed genetic variant. This means they must have evidence of a specific change in their genes that could impact their health. People of any age and gender can participate, as long as they meet these criteria. Throughout the study, participants can expect to provide ongoing information about their health, which will contribute to a better understanding of how genetic factors influence neurodevelopmental disorders.

Gender

ALL

Eligibility 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.