Characterizing ADNP-related neurodevelopmental disorders
The Seaver Autism Center for Research and Treatment - Assessment Core
This study is trying to learn more about how changes in the ADNP gene affect development and behavior in people with ADNP syndrome and Autism Spectrum Disorder.
Quick facts
| Study type | Observational |
|---|---|
| Enrollment | 30 (estimated) |
| Ages | 2 Years and up |
| Sex | All |
| Sponsor | Icahn School of Medicine at Mount Sinai Academic / other |
| Locations | 1 site (New York, New York) |
| Trial ID | NCT03718936 on ClinicalTrials.gov |
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.
Who should consider this trial
Good fit: Ideal candidates are individuals aged 2 years and older with a documented pathogenic variant in the ADNP gene.
Not a fit: Patients without a variant in the ADNP gene or those under 2 years of age may not benefit from this study.
Why it matters
Potential benefit: If successful, this study could lead to improved understanding and management of ADNP-related neurodevelopmental disorders.
How similar studies have performed: While there is ongoing research into neurodevelopmental disorders, this specific characterization of ADNP-related conditions is relatively novel.
Eligibility criteria
Show full inclusion / exclusion 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
Where this trial is running
New York, New York
- 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
How to participate
- Review the eligibility criteria above with your treating physician.
- Visit the official trial page on ClinicalTrials.gov for the most current contact information and recruitment status.
- Contact the listed study coordinator or principal investigator to request pre-screening. Pre-screening is free and never obligates you to enroll.