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

Description

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.

Conditions

ADNP, Helsmoortel-Van Der Aa Syndrome, Autism Spectrum Disorder

Study Overview

Study Details

Study overview

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.

The Seaver Autism Center for Research and Treatment - Assessment Core

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

Condition
ADNP
Intervention / Treatment

-

Contacts and Locations

New York

The Seaver Autism Center for Research and Treatment, New York, New York, United States, 10029

Participation Criteria

Researchers look for people who fit a certain description, called eligibility criteria. Some examples of these criteria are a person's general health condition or prior treatments.

For general information about clinical research, read Learn About Studies.

Eligibility 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.
  • * none

Ages Eligible for Study

2 Years to

Sexes Eligible for Study

ALL

Accepts Healthy Volunteers

No

Collaborators and Investigators

Icahn School of Medicine at Mount Sinai,

Silvia De Rubeis, Ph.D., PRINCIPAL_INVESTIGATOR, Icahn School of Medicine at Mount Sinai

Paige Siper, Ph.D., PRINCIPAL_INVESTIGATOR, Icahn School of Medicine at Mount Sinai

Alexander Kolevzon, MD, PRINCIPAL_INVESTIGATOR, Icahn School of Medicine at Mount Sinai

Study Record Dates

2026-03