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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.

Recruitingn/aAges 2 Years - anyAllIcahn School of Medicine at Mount Sinai
NCT03718936 on ClinicalTrials.gov ↗
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In plain words

What the trial is, and whether it could suit you

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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📋 Eligibility rules (as published)
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
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What it tests

  • Not listed
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Where

1 site
The Seaver Autism Center for Research and Treatment
New York, United States
🤝 Taking part is your choice, and you can leave at any time. Only the trial team can confirm you are eligible — always decide together with your own doctor.
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