Recruiting

Observational Study

Sponsor:

Icahn School of Medicine at Mount Sinai

Code:

NCT03718936

Conditions

ADNP

Helsmoortel-Van Der Aa Syndrome

Autism Spectrum Disorder

Eligibility Criteria

Sex: All

Age: 2+

Healthy Volunteers: Not accepted

Study Details

Brief 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

ADNP

Helsmoortel-Van Der Aa Syndrome

Autism Spectrum Disorder

Study ID

NCT03718936

Start date

Nov 14, 2017

Status verified date

May, 2025

Completion date

Mar, 2027

Anticipated

Primary completion date

Mar, 2027

Anticipated

Eligibility Criteria

Eligibility Criteria

Sex: All

Age: 2+

Healthy Volunteers: Not accepted

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

Study Design

Enrollment

30 participants

Anticipated

Interventions and Outcome Measures

Primary outcome measure

  • Autism Diagnostic Observation Schedule (ADOS) [ Time Frame: Day 1 ]

Central Contacts and Locations

Central contacts

Tess Levy

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

Locations

The Seaver Autism Center for Research and Treatment

Recruiting

New York, New York, United States, 10029

Contacts

Samantha Bright, BA

212-241-0961samantha.bright@mssm.edu

More Information

Sponsor

Icahn School of Medicine at Mount Sinai

Last update posted

May 9, 2025

Last verified

May, 2025

Keywords

  • ADNP
  • Intellectual Disability
  • Autism Spectrum Disorder
  • Global Developmental Delay
  • Neurodevelopmental Deficits
  • Developmental Disability

Trial information was received from ClinicalTrials.gov and was last updated on 2026-09-08. This information was provided to ClinicalTrials.gov by Icahn School of Medicine at Mount Sinai on 2025-05-09.