RecruitingNot Applicable

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

United States30 participantsStarted 2017-11-14

Plain-language 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.

Who can participate

Age range2 Years

SexALL

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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

What they're measuring

Autism Diagnostic Observation Schedule (ADOS)

Timeframe: Day 1

Trial details

NCT IDNCT03718936

SponsorIcahn School of Medicine at Mount Sinai

Sponsor typeOTHER

Study typeOBSERVATIONAL

Primary completion2027-03

Contact for this trial

Tess Levy

212-241-5290 tess.levy@mssm.edu

View on ClinicalTrials.gov More ADNP trials