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The Seaver Autism Center for Research and Treatment at Mount Sinai Announces Clinical Trial of New Investigational Therapy for Phelan-McDermid Syndrome

Newswise — (NEW YORK, May 7, 2018) The Seaver Autism Center for Research and Treatment at Mount Sinai announced today the start of patient enrollment in a new interventional study of an investigational therapy  in the treatment of epilepsy associated with Phelan-McDermid syndrome.

“Phelan-McDermid syndrome is an area of high unmet need, with no established treatment options available for patients,” said Alexander Kolevzon, MD, Professor of Psychiatry and Pediatrics at the Icahn School of Medicine at Mount Sinai, Clinical Director of the Seaver Autism Center, and Principal Investigator of the study. The investigational therapy, called AMO-01, is made by AMO Pharma. “Collaborating with AMO Pharma is an important milestone, since it’s imperative for academia and industry to partner in recognizing the importance of this syndrome and its relevance to neurodevelopmental disorders more broadly. Targeting epilepsy within Phelan-McDermid syndrome also presents a new opportunity for hope for people affected by this devastating condition.”

Phelan-McDermid syndrome, also known as 22q13 deletion syndrome, is a rare genetic condition caused by deletion or mutation of the SHANK3 gene on chromosome 22. The syndrome can cause a wide range of medical, intellectual, and behavioral challenges. The majority of patients with the syndrome also meet the criteria for autism spectrum disorder (ASD), and SHANK3 deletions or mutations are thought to account for up to one percent of ASD cases. A significant proportion of patients with Phelan-McDermid syndrome also experience seizures, which can be highly debilitating, and are at times refractory to traditional anti-seizure medications. Currently available treatments help manage symptoms of the syndrome, but there is no cure and no treatment specific to it.  Researchers are working hard to find medications and other therapies that can help affected individuals and their families.

The new study will examine the safety and potential efficacy of an infusion of AMO-01 in subjects with Phelan-McDermid syndrome aged 12 to 45 years who also have epilepsy. The study will also use novel outcome measures developed by the team at the Seaver Autism Center, including electrophysiology and clinical assessments of sensory reactivity.

AMO-01 is an inhibitor of the Ras-ERK pathway.  Recent laboratory studies suggest that extracellular signal-regulated kinase (ERK) plays a critical role in synaptic plasticity, the ability of certain synapses to strengthen or weaken over time, and in neurodevelopment.  In preclinical efficacy studies, AMO-01 has been shown to rescue the nerve cell deficits  of the multiple knockout mouse models of intellectual disability, including a mouse model of Phelan-McDermid syndrome. While AMO-01 has not yet been investigated in Phelan-McDermid patients, the pretrial data provides strong scientific evidence to support the conclusion that inhibition of the Ras-ERK pathway  may have therapeutic benefit in the treatment of intellectual disabilities in humans.

“At AMO Pharma, our priority focus is to develop treatments for patients with rare and debilitating disorders, often where there are few or no treatment options available,” said Mike Snape, Chief Executive Officer of AMO Pharma. “In addition to the potential for a new treatment, this research will also provide many new insights about Phelan-McDermid syndrome that can play a critical role in future research and disease management.”

About the Seaver Autism Center for Research and Treatment at Mount Sinai
The Seaver Autism Center for Research and Treatment at Mount Sinai conducts progressive research studies aimed at understanding the multiple causes of autism spectrum disorder (ASD).  The multidisciplinary team is composed of experts in the fields of genetics, molecular biology, model systems, neuroimaging, biomarkers, diagnosis, and experimental therapeutics who are dedicated to discovering the biological causes of ASD.  The Center strives to develop innovative diagnostics and treatments for integration into the provision of personalized, comprehensive assessment and care for people with ASD.  The Seaver Autism Center was founded through the generous support of the Beatrice and Samuel A. Seaver Foundation. For more information, visit

About the Mount Sinai Health System
The Mount Sinai Health System is New York City’s largest integrated delivery system encompassing seven hospital campuses, a leading medical school, and a vast network of ambulatory practices throughout the greater New York region. Mount Sinai’s vision is to produce the safest care, the highest quality, the highest satisfaction, the best access and the best value of any health system in the nation. The System includes approximately 7,100 primary and specialty care physicians; 10 joint-venture ambulatory surgery centers; more than 140 ambulatory practices throughout the five boroughs of New York City, Westchester, Long Island, and Florida; and 31 affiliated community health centers. The Icahn School of Medicine is one of three medical schools that have earned distinction by multiple indicators: ranked in the top 20 by U.S. News & World Report’s “Best Medical Schools”, aligned with a U.S. News & World Report’s “Honor Roll” Hospital, No. 13 in the nation for National Institutes of Health funding, and among the top 10 most innovative research institutions as ranked by the journal Nature in its Nature Innovation Index. This reflects a special level of excellence in education, clinical practice, and research. The Mount Sinai Hospital is ranked No. 18 on U.S. News & World Report’s “Honor Roll” of top U.S. hospitals; it is one of the nation’s top 20 hospitals in Cardiology/Heart Surgery, Diabetes/Endocrinology, Gastroenterology/GI Surgery, Geriatrics, Nephrology, and Neurology/Neurosurgery, and in the top 50 in four other specialties in the 2017-2018 “Best Hospitals” issue. Mount Sinai’s Kravis Children’s Hospital also is ranked in six out of ten pediatric specialties by U.S. News & World Report. The New York Eye and Ear Infirmary of Mount Sinai is ranked 12th nationally for Ophthalmology and 50th for Ear, Nose, and Throat, while Mount Sinai Beth Israel, Mount Sinai St. Luke’s and Mount Sinai West are ranked regionally. For more information, visit, or find Mount Sinai on Facebook, Twitter and YouTube.

About AMO Pharma
AMO Pharma is a biopharmaceutical company incorporated in February of 2015. The co-founder, Dr. Michael Snape, has extensive experience in senior scientific and operational roles in both large pharma and biotech companies spanning more than 25 years, and has brought together a targeted and experienced senior management team with a proven track record of success in all phases of product development and acquisition. The company is working to identify and advance promising therapies for the treatment of serious and debilitating diseases in patient populations with significant areas of unmet need, including rare, debilitating childhood onset neurogenetic disorders with limited or no treatment options.

For more information, please visit the AMO Pharma website at