NCT03718936 ADNP Syndrome: The Seaver Autism Center for Research and Treatment is Characterizing ADNP-related Neurodevelopmental Disorders Using Genetic, Medical, and Neuropsychological Measures.
| NCT ID | NCT03718936 |
| Status | Recruiting |
| Phase | — |
| Sponsor | Icahn School of Medicine at Mount Sinai |
| Condition | ADNP |
| Study Type | OBSERVATIONAL |
| Enrollment | 30 participants |
| Start Date | 2017-11-14 |
| Primary Completion | 2027-03 |
Eligibility & Interventions
Eligibility Fast-Check
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What to Expect as a Participant
This is an observational study. You will not receive an experimental treatment; researchers will collect data based on your existing condition or standard treatment.
This trial targets 30 participants in total. It began in 2017-11-14 with a primary completion date of 2027-03.
⚠ This information is for research awareness only. Always consult your physician before joining any clinical trial. Participation is voluntary and you may withdraw at any time.
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.
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
Contact & Investigator
Silvia De Rubeis, Ph.D.
PRINCIPAL INVESTIGATOR
Icahn School of Medicine at Mount Sinai
Frequently Asked Questions
Who can join the NCT03718936 clinical trial?
This trial is open to participants of all sexes, aged 2 Years or older, studying ADNP. Full inclusion and exclusion criteria are listed in the Eligibility Criteria section. Always confirm your eligibility with the research team before applying.
Is NCT03718936 currently recruiting?
Yes, NCT03718936 is actively recruiting participants. Contact the research team at tess.levy@mssm.edu for enrollment information.
Where is the NCT03718936 trial being conducted?
This trial is being conducted at New York, United States.
Who is sponsoring the NCT03718936 clinical trial?
NCT03718936 is sponsored by Icahn School of Medicine at Mount Sinai. The principal investigator is Silvia De Rubeis, Ph.D. at Icahn School of Medicine at Mount Sinai. The trial plans to enroll 30 participants.