ADNP Syndrome: The Seaver Autism Center for Research and Treatment is Characterizing ADNP-related Neurodevelopmental Disorders Using Genetic, Medical, and Neuropsychological Measures.
Launched by ICAHN SCHOOL OF MEDICINE AT MOUNT SINAI · Oct 23, 2018
Trial Information
Current as of August 22, 2025
Recruiting
Keywords
ClinConnect Summary
This clinical trial is studying a rare condition called ADNP syndrome, which affects brain development and can lead to challenges like intellectual disability and delays in reaching developmental milestones. The goal of the study is to better understand how ADNP syndrome and related disorders, such as Helsmoortel-Van Der Aa Syndrome and Autism Spectrum Disorder, affect individuals by looking at their genetic information, medical history, and cognitive abilities.
To participate in this study, children and adults must be at least 2 years old and have a specific change in the ADNP gene that is likely to cause health issues. There are no other restrictions on who can join. Participants will undergo assessments that include genetic testing and evaluations of their medical and cognitive skills. This research aims to help scientists and doctors learn more about these conditions, which could lead to better treatments and support for individuals affected by ADNP syndrome.
Gender
ALL
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
About Icahn School Of Medicine At Mount Sinai
The Icahn School of Medicine at Mount Sinai is a premier academic institution located in New York City, renowned for its commitment to advancing medical research, education, and patient care. As a leading sponsor of clinical trials, the institution leverages its state-of-the-art facilities and multidisciplinary expertise to drive innovative research initiatives aimed at improving health outcomes. With a focus on translational medicine, the Icahn School of Medicine collaborates with a diverse network of researchers, clinicians, and industry partners to explore novel therapies and interventions across a wide range of medical disciplines. Its rigorous scientific approach and dedication to ethical standards position it as a trusted leader in the clinical research landscape.
Contacts
Jennifer Cobb
Immunology at National Institute of Allergy and Infectious Diseases (NIAID)
Locations
New York, New York, United States
Patients applied
Trial Officials
Silvia De Rubeis, Ph.D.
Principal Investigator
Icahn School of Medicine at Mount Sinai
Paige Siper, Ph.D.
Principal Investigator
Icahn School of Medicine at Mount Sinai
Alexander Kolevzon, MD
Principal Investigator
Icahn School of Medicine at Mount Sinai
Timeline
First submit
Trial launched
Trial updated
Estimated completion
Not reported
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