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Phelan-McDermid Syndrome Treatment Commences Clinical Trial Recruitment

Phelan-McDermid Syndrome Treatment Commences Clinical Trial Recruitment

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.”

Source: Rare Disease Report by K.Rossi

PRESS RELEASE

LONDON and PHILADELPHIA, May 7, 2018 /PRNewswire/ — AMO Pharma Limited (“AMO Pharma”), a privately held biopharmaceutical company focusing on rare, debilitating childhood onset neurogenetic disorders with limited or no treatment options, today announced initiation of patient recruitment in an interventional study of AMO-01, the company’s investigational Ras-ERK pathway inhibitor, in the treatment of Phelan-McDermid syndrome. The clinical trial is being conducted by the Icahn School of Medicine at Mount Sinai (ISMMS) in New York.

 

“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, chief executive officer 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.”

 
AMO Pharma will provide AMO-01 and grant funding for this investigator led study in subjects with Phelan-McDermid syndrome aged 12 years or older who have a history of epilepsy. Phelan-McDermid syndrome is a rare genetic condition caused by a chromosomal deletion. The most common characteristics found in these patients are intellectual disability of varying degrees, delayed or absent speech, symptoms of autism spectrum disorder, low muscle tone, motor delays and epilepsy.

 
“We are very pleased to be leading this important clinical research effort in collaboration with AMO Pharma,” said principal investigator Alexander Kolevzon, M.D. “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.”

 
About AMO-01
Recent 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 neurodevelopment. AMO-01 is an inhibitor of the Ras-ERK pathway. In pre-clinical efficacy studies, AMO-01 has been shown to rescue the neuronal phenotype of the multiple knockout mouse models of intellectual disability. This provides strong scientific evidence to support the conclusion that inhibition of the Ras-ERK cascade may have therapeutic benefit in the treatment of intellectual disabilities in humans.

 

 

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