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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.

NCT03718936 · Status: RECRUITING · Type: OBSERVATIONAL · Enrollment: 30

Last updated 2025-05-09

No results posted yet for this study

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.

Conditions

Sponsors & Collaborators

  • The Seaver Foundation

    collaborator UNKNOWN

  • Autism Science Foundation

    collaborator OTHER

  • Research Foundation for Mental Hygiene, Inc.

    collaborator OTHER

  • Icahn School of Medicine at Mount Sinai

    lead OTHER

Principal Investigators

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

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

  • Alexander Kolevzon, MD · Icahn School of Medicine at Mount Sinai

Eligibility

Min Age
2 Years
Sex
ALL
Healthy Volunteers
No

Timeline & Regulatory

Start
2017-11-14
Primary Completion
2027-03-31
Completion
2027-03-31

Countries

  • United States

Study Locations

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Entities

Diseases
Companies

Read the full study record

This page highlights key information. For complete eligibility criteria, study locations, investigator contacts, and the full protocol, visit the original record on ClinicalTrials.gov.

View NCT03718936 on ClinicalTrials.gov