ADNP Syndrome: The Seaver Autism Center for Research and Treatment is Characterizing ADNP-related Neurodevelopmental Disorders Using Genetic, Medical, and Neuropsychological Measures.
For patients and families
In plain language
An automatic summary of structured registry data. It is an orientation aid, not a substitute for the official protocol or a physician assessment.
- What is being studied
- This is an observational study: the protocol does not assign a study treatment.
- Who it may be relevant to
- Registry conditions: ADNP, Helsmoortel-Van Der Aa Syndrome, Autism Spectrum Disorder. Basic parameters: from 2 years · All.
- What needs checking
- Age, condition and sex are only basic indicators. Prior treatment, laboratory values and other mandatory requirements appear in the eligibility criteria below.
- Where it takes place
- United States
- Next step
- Save the trial, show it to the treating physician, and confirm current recruitment with the study center. Costs, documents and travel →
Unsure about the terms? Read our patient guide →
Official title
The Seaver Autism Center for Research and Treatment - Assessment Core
Overview
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.
Detailed description
Subjects with a variant in the ADNP gene will be asked to complete a battery of developmental, behavioral and medical assessments to better characterize gene-related neurodevelopmental deficits. This series of assessments takes place over the course of a three-day period. It includes the Autism Diagnostic Observation Schedule (ADOS), parent interviews regarding developmental history and behavior, a psychiatric evaluation, a neurology assessment, as well as a clinical genetic evaluation that includes a physical and vitals exam. Affected individuals, as well as biologically related siblings, will also undergo a series of sensory assessments, including a research EEG, visual evoked potential, and an eyetracking assessment. Family members present for the visit will also be asked to provide a blood and/or saliva sample for research genetics.
Primary outcome measures
- Autism Diagnostic Observation Schedule (ADOS) [Time frame: Day 1]
Secondary outcome measures (4)
- Autism Diagnostic Interview - Revised (ADI-R) [Time frame: Day 1]
- Stanford-Binet Intelligence Scales [Time frame: Day 1]
- Differential Ability Scales (DAS) [Time frame: Day 1]
- Mullen Scales of Early Learning [Time frame: Day 1]
Eligibility criteria
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
Criteria are shown verbatim from the registry (in English). Final eligibility is always assessed by the study center.
Study design
- Observational model
- Cohort
Study locations
United States · 1 center
- The Seaver Autism Center for Research and Treatment — New York
Identifiers
NCT: NCT03718936 · GCO 98-436