Health Trials

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

ConditionsADNPHelsmoortel-Van Der Aa SyndromeAutism Spectrum Disorder
Trial statusRecruiting
Trial phaseNot listed
Trial typeObservational
Biological sexAll
Age2+
SponsorIcahn School of Medicine at Mount Sinai

About this trial

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.

Eligibility criteria

Qualifiers

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.

Disqualifiers

none

Trial design

Treatments tested in this trial

  • Not listed

Trial groups

No trial groups listed

Sponsors and collaborators

Icahn School of Medicine at Mount Sinai

Lead sponsor

The Seaver Foundation

Collaborator

Autism Science Foundation

Collaborator

Research Foundation for Mental Hygiene, Inc.

Collaborator

Source ClinicalTrials.gov