Clinical Research

Through our extensive Clinical Research Program, the Seaver Autism Center for Research and Treatment has gained significant expertise in the medical and behavioral treatment of children, adolescents, and adults with autism spectrum disorder and related conditions.

Our group has developed an effective experimental therapeutics program in psychosocial and psychopharmacological treatment approaches, incorporating established and novel treatment approaches. Our clinicians provide state-of-the-art assessments, among the best available in the world today. Their work also supports autism research across programs at the Icahn School of Medicine at Mount Sinai and enhances communication between the various programs and individual investigators, generating new ideas and innovative opportunities for outstanding clinical and basic science research.

Clinical Trials

A Phase 2A Open-Label Study Evaluating the Safety and Efficacy of Low-Dose Ketamine in Children With ADNP Syndrome (ages 5 to 12)
The Phase 2a, single dose, open-label study is the first clinical trial for ADNP syndrome. The Seaver Autism Center will enroll 10 participants, ages 5 to 12, at The Mount Sinai Hospital. Participants will receive one low-dose infusion of ketamine for 40 minutes and be monitored for four weeks. At each clinic visit, participants will undergo safety monitoring, clinical evaluations, and biomarker studies using electrophysiology and eye tracking.

Piloting Treatment with Intranasal Oxytocin in Phelan-McDermid Syndrome (ages 5-17)
The goal of this study is to examine the efficacy, safety and tolerability of oxytocin as a novel treatment in Phelan-McDermid syndrome (PMS). This study is also evaluating attention, social memory, socialization, language, and repetitive behaviors following oxytocin treatment. The study will last 24 weeks and consist of two phases. The study will include monthly visits with routine medical monitoring for safety. Numerous parent questionnaires, clinician completed tools, and objective measures will be used to assess the effect of oxytocin. Individuals with PMS may be eligible to participate if they are between the ages of 5-17.

An open-label study to investigate the safety, tolerability and efficacy of a single 6-hour intravenous infusion of AMO-01 to treat adolescents and adults with Phelan-McDermid Syndrome (PMS) and co- morbid epilepsy (ages 12-45)
This Pilot study will examine the safety, tolerability, and efficacy of AMO-01 as a novel treatment for adolescents and adults with Phelan-McDermind syndrome (PMS) and epilepsy. AMO-01 inhibits is an inhibitor of a pathway that is known to play an important role in neurodevelopmental disorders and seizure generation. AMO-01 will be administered once over six hours through intravenous infusion on-site at Mount Sinai. The overall study will include five visits to Mount Sinai over approximately eight weeks. Individuals may be eligible to participate if they are ages 12-45, have pathogenic deletions or mutations in their SHANK3 gene, and are diagnosed with epilepsy.

Clinical Studies

Electrophysiological Markers for Interventions in Phelan-McDermid Syndrome and Idiopathic Autism (ages 2-12)
Participation in this study includes a series of interviews and assessments, such as behavioral, intellectual, and electrophysiological measures. All testing will be repeated once, 12 weeks apart and each visit will last approximately 7 hours dispersed over multiple days. Individuals ages 2-12 with autism spectrum disorder (ASD) or Phelan-McDermid Syndrome (PMS) or are eligible to participate in this study.

PROMIS-Guided Development and Validation of a Dimensional Observer-Report Measure of Positive and Negative Features of ASD (ages 3-11)
Heterogeneity and lack of sensitive symptom assessments are critical barriers toward identifying underlying etiology and developing targeted and effective treatments for autism spectrum disorder (ASD). The goal of this project is to develop and validate a new measure that allows for precise characterization and strong discrimination of ASD symptoms along “positive” and “negative” dimensions. Participation in the study involves completing caregiver surveys and clinical assessments over the course of 2-4 visits to the Seaver Center. Caregivers may also be asked to provide feedback about the new questionnaire.

Sensory and Perceptual Functioning in Neurodevelopmental Disorders
Using multimodal neuroimaging (EEG, MRI), psychophysical testing, eye tracking, computer testing, and targeted clinical assessments, this research investigates sensory and perceptual processing, as they differ between ASD and typical development. This study also looks at the convergence or divergence between ASD and other neurodevelopmental disorders including schizophrenia, and the relationship between specific patterns of clinical symptoms within the broad ASD population and within individuals exhibiting known genetic mutations that contribute to an ASD phenotype.

Mapping the Genotype and Phenotype in Individuals with FOXP1 syndrome
The goal of this study is to gain a better understanding of individuals with FOXP1 syndrome. Participation includes a comprehensive battery of evaluations by experts in psychiatry, psychology, medical genetics, and neurology, with the aim of studying FOXP1 syndrome across the life span.

Developing precision approaches to the treatment of individuals with ADNP syndrome
The goal of this study is to gain a better understanding of individuals with ADNP syndrome. Participation includes a comprehensive battery of evaluations by experts in psychiatry, psychology, medical genetics, and neurology, with the aim of studying ADNP syndrome across the life span.

Investigating DDX3X as a sex-specific translational regulator associated with autism
The goal of this study is to gain a better understanding of individuals with DDX3X syndrome. Participation includes a comprehensive battery of evaluations by experts in psychiatry, psychology, medical genetics, and neurology, with the aim of studying DDX3X syndrome across the life span.

Mapping the Genotype, Phenotype and Natural History of Phelan-McDermid Syndrome
The goal of this study is to gain a better understanding of Phelan-McDermid Syndrome in order to identify early markers and ultimately effective interventions for autism spectrum disorder. This is a multi-center research study conducted as part of the Rare Disease Clinical Research Network (RDCRN) and sponsored by the National Institutes of Health (NIH). English speaking individuals diagnosed with Phelan-McDermid syndrome may be eligible to participatea. The study involves five visits over a two year period. Three of the visits occur on site at the study location and involve a blood draw, physical and neurological exam and developmental testing. Two visits occur as phone calls and involve answering questionnaires about behavior and development. Recruitment for the second phase of this study will begin in the spring of 2020.

Mapping the Phenotype in Adults with Phelan-McDermid Syndrome (ages 22 and older)
Current studies are underway to deeply characterize the phenotype in children with PMS, but less is known about the course of illness in later adulthood. The study will be conducted as part of the Rare Disease Clinical Research Network (RDCRN) and is sponsored by the Phelan-McDermid Syndrome Foundation (PMSF). English-speaking adults with Phelan-McDermid Syndrome who are ages 22 years and older may participate. The study involves a visit to the Seaver Center, at which participants will complete a physical as well as neurological, psychiatric and cognitive testing.

Tooth Fairy Study: Exploring Environmental Toxin Exposure in Autism
In an effort to better understand if exposure to toxins, such as metals and chemicals, is related to autism spectrum disorder, we are collecting baby teeth from individuals with ASD and their unaffected siblings. Consent for the Tooth Fairy study can be done by phone and tooth collection can be completed by mail.