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ADNP Syndrome: The Seaver Autism Center for Research and Treatment is Characterizing ADNP-related Neurodevelopmental Disorders Using Genetic, Medical, and Neuropsychological Measures.

RecruitingObservational study

The Seaver Autism Center for Research and Treatment - Assessment Core

Who can join

Ages 2 and older · All sexes

Full 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

About the study

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.

Sponsor: Icahn School of Medicine at Mount Sinai · Participants: 30 · Started: Nov 14, 2017

Contact the study team

Official record on ClinicalTrials.gov — NCT03718936

Locations in the U.S.

New YorkThe Seaver Autism Center for Research and Treatment, New York

Conditions

From ClinicalTrials.gov, data retrieved Sep 30, 2026. Each study sets its own eligibility; the study team decides who can join.