• Press Release

Seaver Autism Center For Research and Treatment at Mount Sinai Launches First Drug Trial for ADNP Syndrome

Ketamine may provide hope for families affected by a rare disorder that is a leading genetic cause of autism

  • New York, NY
  • (July 07, 2020)

Researchers at the Seaver Autism Center for Research and Treatment at Mount Sinai have started recruiting participants for a new clinical trial to evaluate the safety, tolerability, and efficacy of a low dose of ketamine in children diagnosed with ADNP syndrome (also known as Helsmoortel-VanDerAa syndrome), a rare neurodevelopmental disorder caused by mutations in the activity dependent neuroprotective protein (ADNP) gene.

The ADNP gene affects brain formation, development, and function, and the protein produced from it helps control the expression of other genes. Individuals with the disorder produce roughly half of the proper amount of protein. ADNP mutations are one of the most common single-gene causes of autism spectrum disorder.

The potential of ketamine as a treatment modality for ADNP syndrome was identified by mediKanren, an artificial intelligence (AI) tool that scans medical literature and uses AI reasoning. Using that information, two parents of children with ADNP syndrome—Matt Davis, MD, and Sandra Sermone, founder of the ADNP Kids Research Foundation—began their own analysis by scouring medical literature and processing the results. They found several animal model studies that showed ketamine was able to boost ADNP production in brain cells. The parents presented the evidence and their hypothesis to Joseph Buxbaum, PhD, Director of the Seaver Autism Center, who agreed that this was a potentially viable approach.

The use of a precision medicine approach considers individual variability in genes and lifestyle for each person and enables researchers to more accurately predict which treatment and prevention strategies for a particular disease will work in which groups of people.

“If we can replicate the increase in ADNP protein production in humans, it could be a major breakthrough to help reduce negative effects of this devastating disorder,” said Alexander Kolevzon, MD, Clinical Director of the Seaver Autism Center.

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.

“We believe our precision medicine approach to rare disorders such as ADNP syndrome is the gateway to future therapeutics for idiopathic autism,” said Ana Kostic, PhD, Director of Drug Discovery and Development at the Seaver Autism Center.

Ketamine was approved for use in the United States in 1970. It is used in anesthesia and pain management, and recently as a treatment for depression. By repurposing an already approved drug such as ketamine, the regulatory approval process may be expedited. With positive results, this study could help lead to a treatment for ADNP syndrome years earlier than what would be possible when starting with a new compound.

“To date, ADNP syndrome has no FDA-approved treatment options and if the trial is successful, this could be the first viable treatment for children who suffer with this debilitating condition and have an urgent, unmet need,” said Ms. Sermone. “We are hopeful that ketamine may benefit not only ADNP Syndrome, but other forms of autism or related neurological conditions where upregulation of ADNP may be therapeutic. If so, that could open the door to help a much larger population of patients.”

About the Seaver Autism Center for Research and Treatment 
The Seaver Autism Center is one of the most recognized institutions of its kind in the world because of its ability to translate breakthroughs in the lab to clinical trials that bring cutting-edge treatment to individuals affected by autism spectrum disorder (ASD) and associated neurodevelopmental disorders. We offer compassionate care, including assessment and behavioral health services, to children and families, as well as educational and community outreach programs. Founded in 1993 and located at the Icahn School of Medicine at Mount Sinai, families come from around the world to seek our services and the expert counsel of our team of scientists, researchers and clinicians.

For more information, visit: www.seaverautismcenter.org, or find the Seaver Autism Center on Facebook, Twitter and Instagram.


About the Mount Sinai Health System

The Mount Sinai Health System is New York City's largest academic medical system, encompassing eight hospitals, a leading medical school, and a vast network of ambulatory practices throughout the greater New York region. Mount Sinai is a national and international source of unrivaled education, translational research and discovery, and collaborative clinical leadership ensuring that we deliver the highest quality care—from prevention to treatment of the most serious and complex human diseases. The Health System includes more than 7,200 physicians and features a robust and continually expanding network of multispecialty services, including more than 400 ambulatory practice locations throughout the five boroughs of New York City, Westchester, and Long Island. The Mount Sinai Hospital is ranked No. 14 on U.S. News & World Report's "Honor Roll" of the Top 20 Best Hospitals in the country and the Icahn School of Medicine as one of the Top 20 Best Medical Schools in country. Mount Sinai Health System hospitals are consistently ranked regionally by specialty and our physicians in the top 1% of all physicians nationally by U.S. News & World Report.

For more information, visit https://www.mountsinai.org or find Mount Sinai on FacebookTwitter and YouTube.