Studies ADNP syndrome, a rare brain development disorder, using genetic, medical and mental tests
Observes people with ADNP-related disorders through genetic, medical and neuropsychological measures.
Plain-language title generated from the registry record
Registry title: ADNP Syndrome: The Seaver Autism Center for Research and Treatment is Characterizing ADNP-related Neurodevelopmental Disorders Using Genetic, Medical, and Neuropsychological Measures.
Key facts
- Where
- New York, United StatesSee the site
Where in United States
- The Seaver Autism Center for Research and TreatmentNew York, United StatesTaking people
Questions to ask the study team
- How often do I need to come in, and for how long each time?
- Are travel costs paid?
- Can I keep my own doctor?
- What happens if I want to stop?
Trial details
- Who runs it
- Icahn School of Medicine at Mount Sinai
- Trial code
- NCT03718936
- Record updated
- 9 May 2025
- Original description
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.Read full original descriptionShow less
The Seaver Autism Center for Research and Treatment - Assessment Core
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.
Inclusion: 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: none.