Clinical Trials Are in the Works That Will Test a Treatment for Phelan-McDermid Syndrome

According to a story from Newswise, the Seaver Autism Center for Research and Treatment at Mount Sinai recently announced that patient enrollment has begun for a clinical trial that will test an experimental therapy meant to treat epilepsy that is associated with Phelan -McDermid syndrome. As of now, there are no currently available treatment options meant to address this rare disorder.
Phelan-McDermid syndrome (PMS), also called 22q13 deletion syndrome, is a genetic disorder caused by changes or deletions on the terminal q end of chromosome 22. People with this syndrome may experience a wide variety of different behavioral and medical changes. Regardless, most patients do share certain symptoms, such as developmental delays, speech abnormalities, intellectual disability, autism-like behavior, poor muscle tone, and some unusual physical features. Epileptic-type seizures are reported in about 40 percent of patients. Treatment is mostly supportive. Over 1,200 patients have been identified worldwide so far, but it is possible that this disorder is underreported due to the exceptional variability in features. To learn more about Phelan-McDermid syndrome, click here.

The investigational drug to be tested is called AMO-01, and was developed by AMO Pharma, which specializes in developing therapies for rare diseases that have very limited or no treatment options currently available. The therapy will be tested for effectiveness and safety in a group of patients with PMS between the ages of 12 and 45 that experience epileptic seizures. These seizures only compound the potential debilitating symptoms of PMS, and in many patients, typical anti-seizure medications fail to stop them. AMO-01 has shown potential in mouse models of PMS so far.

The Seaver Autism Center is dedicated to treatment and research for any of the potential origins of autism spectrum disorder. The team of researchers represents a multidisciplinary approach to this goal, featuring and array of experts from a variety of medical and scientific fields. It is a subdivision of the Mount Sinai Health System, which is the largest in New York City and includes seven hospital locations.

Hopefully, these clinical trials will reaffirm the data from prior research and allow PMS patients access to first treatment designed specifically for this disorder.


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