NCT03718936 ADNP Syndrome: The Seaver Autism Center for Research and Treatment is Characterizing ADNP-related Neurodevelopmental Disorders Using Genetic, Medical, and Neuropsychological Measures.
| NCT ID | NCT03718936 |
| Status | Recruiting |
| Phase | — |
| Sponsor | Icahn School of Medicine at Mount Sinai |
| Condition | ADNP |
| Study Type | OBSERVATIONAL |
| Enrollment | 30 participants |
| Start Date | 2017-11-14 |
| Primary Completion | 2027-03 |
Trial Parameters
Eligibility Fast-Check
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Brief 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 Criteria
Inclusion Criteria: * 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 Criteria: * none