Clinical trial NCT03718936: ADNP Syndrome: The Seaver Autism Center for Research and Treatment is Characterizing ADNP-related Neurodevelopmental Disorders Using Genetic, Medical, and Neuropsychological Measures.
Official title: The Seaver Autism Center for Research and Treatment - Assessment Core
Study type: OBSERVATIONAL
Overall status: RECRUITING
Conditions: ADNP
Helsmoortel-Van Der Aa Syndrome
Autism Spectrum Disorder
Keywords: ADNP
Intellectual Disability
Autism Spectrum Disorder
Global Developmental Delay
Neurodevelopmental Deficits
Developmental Disability
Lead sponsor: Icahn School of Medicine at Mount Sinai
Sponsor class: OTHER
Collaborators: name: The Seaver Foundation
name: Autism Science Foundation
name: Research Foundation for Mental Hygiene, Inc.
First posted: 2018-10-25
Enrollment: 30
Sex: ALL
Minimum age (years): 2
Standard ages: CHILD
ADULT
OLDER_ADULT
Observational model: COHORT
Time perspective: CROSS_SECTIONAL
Sampling method: NON_PROBABILITY_SAMPLE
Study population: Individuals for this cohort study will be selected from any population, provided that they have a variant in the ADNP gene and meet eligibility requirements.

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.

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.

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

Primary outcomes:
measure: Autism Diagnostic Observation Schedule (ADOS)
timeFrame: Day 1
Secondary outcomes:
measure: Autism Diagnostic Interview - Revised (ADI-R)
timeFrame: Day 1
measure: Stanford-Binet Intelligence Scales
timeFrame: Day 1
measure: Differential Ability Scales (DAS)
timeFrame: Day 1
measure: Mullen Scales of Early Learning
timeFrame: Day 1
Other outcomes:
Locations:
city: New York
country: United States
facility: The Seaver Autism Center for Research and Treatment
state: New York
Study officials:
affiliation: Icahn School of Medicine at Mount Sinai
name: Silvia De Rubeis, Ph.D.
role: PRINCIPAL_INVESTIGATOR
affiliation: Icahn School of Medicine at Mount Sinai
name: Paige Siper, Ph.D.
role: PRINCIPAL_INVESTIGATOR
affiliation: Icahn School of Medicine at Mount Sinai
name: Alexander Kolevzon, MD
role: PRINCIPAL_INVESTIGATOR
References: