Characterizing ADNP-related neurodevelopmental disorders

Is this trial a fit for you?

A plain-English reading of the study's rules. Only the study team can confirm whether you qualify.

What this trial studies

This study focuses on individuals with a variant in the ADNP gene, which is associated with neurodevelopmental disorders such as ADNP syndrome and Autism Spectrum Disorder. Participants will undergo a series of developmental, behavioral, and medical assessments over three days, including the Autism Diagnostic Observation Schedule and various sensory evaluations. The goal is to better understand the neurodevelopmental deficits linked to the ADNP gene through comprehensive evaluations and genetic analysis.

Why it matters

Who can join: the full rules

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

Where it's running

• The Seaver Autism Center for Research and Treatment
  New York, New York, United States Recruiting

Study contacts

• Principal investigator: Silvia De Rubeis, Ph.D. — Icahn School of Medicine at Mount Sinai
• Study coordinator: Tess Levy
• Email: tess.levy@mssm.edu
• Phone: 212-241-5290

Similar studies

Other studies for the same condition or treatment. Recruiting studies are listed first.

• Sensory Integration and Deep Pressure Therapy for Motor Coordination in Children with ASD

  This study tests whether combining Sensory Integration Therapy with Deep Pressure Therapy can improve motor coordination and reduce repetitive behaviors in children aged 4–10 with autism.

  Recruiting Riphah International University · Rawalpindi, Punjab Province · NCT07911904

• Pupillometer screen to help identify autism in kids aged 2–4 during routine visits

  A handheld pupillometer test is being tried to see if it can help identify autism in young children during regular pediatric visits.

  Recruiting at 4 sites Schweitzer Engineering Laboratories · Lewiston, Idaho and 3 other locations · NCT07903675

• Leopard: using multi-omics to boost genetic diagnosis for neurodevelopmental disorders

  This study tests a multi-omics approach to find genetic explanations for neurodevelopmental disorders in people with moderate-to-severe intellectual disability.

  Recruiting Istituto Giannina Gaslini · Genova · NCT07884227

• Heart Rate Variability Biofeedback for Anxiety in Autistic Youth

  This study tests a wearable heart rate variability biofeedback tool to see if it helps reduce anxiety in autistic teens.

  Recruiting Phase 2 Massachusetts General Hospital · Lexington, Massachusetts · NCT07812233

• Structured Sensory-Based Occupational Therapy for Children with Autism

  This study tests a 12-week, 40-minute sensory-based occupational therapy program twice a week to see if it improves daily skills, sensory processing, movement, and eating in children aged 3-9 with autism.

  Recruiting Medipol University · Istanbul, Beykoz · NCT07789704

• Exergaming and Aerobic Exercise for Kids with Autism

  This study tests whether adding exergames or aerobic exercise to a standard program helps improve sleep, movement skills, thinking skills, and brain activity in children with autism.

  Recruiting National Taiwan University Hospital · Taipei · NCT07789457

How to take part

1. Review the eligibility criteria above with your treating physician.
2. Check the official listing on ClinicalTrials.gov for the latest contact details and recruitment status.
3. Contact the study coordinator or principal investigator to ask for pre-screening. Pre-screening is free and never obligates you to enroll.