Rare Disease Report

Phelan-McDermid Syndrome Treatment Commences Clinical Trial Recruitment

MAY 11, 2018
Krista Rossi
This week, AMO Pharma Limited announced the commencement of patient recruitment for an interventional study of AMO-01, an investigational Ras-ERK pathway inhibitor for the treatment of Phelan-McDermid syndrome (PMS).

"Treatment of Phelan-McDermid syndrome represents a significant area of unmet need in healthcare, and AMO Pharma is grateful to the research team at Mt. Sinai as well as the Phelan McDermid Syndrome Foundation for their commitment to this landmark research effort," said Michael Snape, PhD, CEO of AMO Pharma. "Research thus far indicates that AMO-01 could have important applications in the treatment of patients living with Phelan-McDermid syndrome in the years ahead."

PMS, also known as 22q13 Deletion Syndrome, is a rare genetic condition characterized by a deletion or a missing piece of genetic material or a mutation of the SHANK3 gene that causes a variety of different but related symptoms that can include intellectual disability, delayed or absent speech, low muscle tone, motor delays, epilepsy, and symptoms of autism spectrum disorder.

Currently, there are no approved treatments for PMS.

“We are very pleased to be leading this important clinical research effort in collaboration with AMO Pharma,” commented principal investigator Alexander Kolevzon, MD in a press release. “In addition to potentially leading to a new treatment option for patients, this research effort can also provide us with many important new insights about the onset, progression and management of Phelan-McDermid syndrome.”

The Icahn School of Medicine at Mount Sinai (ISMMS) in New York is conducting the clinical trial and plans to enroll 10 participants aged between 12 and 45 years with a diagnosis of epilepsy and PMS with genetic confirmation of pathogenic SHANK3 deletion or mutation. The estimated study start date is May 31, 2018, and it is expected to conclude by March 31, 2019.

Primary outcome measures will include the number of adverse events. Secondary outcome measure will include a change in Clinical Global Impressions (CGI) Rating Scales, to measure symptom severity and global improvement in treatment, and Clinician-completed PMS domain specific causes for concerns Visual Analogue Scale (VAS) in 8 weeks. The top 3 caregiver Concerns VAS, an Aberrant Behavior Checklist (ABC), and an Repetitive Behavior Scale-Revised (RBS-R) will be evaluated in 4 weeks.

In an exclusive interview with Rare Disease Report, Michael Snape, PhD, CEO of AMO Pharma, stated the significance this trial and drug could have. “This molecule addresses a pathway known as Ras-ERK, and there is a consensus in neurobiology teaching that as Ras-ERK pathway is fairly fundamental to the formations and connections of neurons and the development and nature of synapses—the point being here that this would really be going to the heart of the underlying biology in terms of what is going on within connectivity in the brain and problems with connectivity in the brain in this and related disorders.” 

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