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

Study Results

Results pending

The study team has not published outcome measurements, participant flow, or safety data for this trial yet. Check back later for updates.

Basic Information

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Recruitment Status

RECRUITING

Total Enrollment

30 participants

Study Classification

OBSERVATIONAL

Study Start Date

2017-11-14

Study Completion Date

2027-03-31

Brief Summary

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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.

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Detailed Description

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Subjects with a variant in the ADNP gene will be asked to complete a battery of developmental, behavioral and medical assessments to better characterize gene-related neurodevelopmental deficits. This series of assessments takes place over the course of a three-day period. It includes the Autism Diagnostic Observation Schedule (ADOS), parent interviews regarding developmental history and behavior, a psychiatric evaluation, a neurology assessment, as well as a clinical genetic evaluation that includes a physical and vitals exam. Affected individuals, as well as biologically related siblings, will also undergo a series of sensory assessments, including a research EEG, visual evoked potential, and an eyetracking assessment. Family members present for the visit will also be asked to provide a blood and/or saliva sample for research genetics.

Conditions

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ADNP Helsmoortel-Van Der Aa Syndrome Autism Spectrum Disorder

Study Design

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Observational Model Type

COHORT

Study Time Perspective

CROSS_SECTIONAL

Eligibility Criteria

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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

Minimum Eligible Age

2 Years

Eligible Sex

ALL

Accepts Healthy Volunteers

No

Responsible Party

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Alexander Kolevzon

Clinical Director of the Seaver Autism Center for Research and Treatment, Professor of Psychiatry and Pediatrics and Director of Child and Adolescent Psychiatry

Responsibility Role PRINCIPAL_INVESTIGATOR