ADNP Syndrome: The Seaver Autism Center for Research and Treatment is Characterizing ADNP-related Neurodevelopmental Disorders Using Genetic, Medical, and Neuropsychological Measures.
The Seaver Autism Center for Research and Treatment - Assessment Core
Icahn School of Medicine at Mount Sinai
30 participants
Nov 14, 2017
OBSERVATIONAL
Conditions
Summary
ADNP, also known as Activity Dependent Neuroprotective Protein, is a rare neurodevelopmental disorder caused by mutations encompassing the ADNP gene on chromosome 20. Clinically, ADNP syndrome is characterized by intellectual disability and global developmental delay. This study seeks to characterize ADNP-related neurodevelopmental disorders using a number of genetic, medical and neuropsychological measures.
Eligibility
Inclusion Criteria2
- Eligible participants must have a documented variant affecting the ADNP gene that the research team determines to be likely or definitely pathogenic.
- Eligible participants must be at least 2 years of age.
Exclusion Criteria1
- none
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Locations(1)
View Full Details on ClinicalTrials.gov
For the most up-to-date information, visit the official listing.
NCT03718936