About Phelan-McDermid syndrome
Phelan-McDermid syndrome (PMS) is also sometimes referred to as 22q13 deletion syndrome. It is the result of a missing piece of genetic material on chromosome 22 which usually includes the SHANK3 gene, or sometimes from a mutation of the SHANK3 gene itself. The SHANK3 gene provides instructions for making a protein found in body and brain tissue that helps individuals grow and develop. Most of the genetic abnormalities associated with PMS occur randomly (de novo), but the disease can also be inherited.
Development & Clinical Trial Update
There are currently no approved therapies available for PMS. In most cases, treatment involves efforts to address each patient's symptoms as they arise. With support from AMO Pharma, the Icahn School of Medicine at Mount Sinai in New York recently initiated a clinical study of AMO Pharma's investigational therapy AMO-01 for the treatment of PMS. In pre-clinical studies on mice genetically modified to model PMS, AMO-01 was shown to have potential for therapeutic benefit in the treatment of multiple deficits in PMS. This study of AMO-01 at the Icahn School of Medicine at Mount Sinai in New York in PMS patients aged 12 to 45 years, who also have epilepsy, is currently underway and recruiting subjects. The study is expected to evaluate the safety and efficacy of AMO-01 in ten patients and is scheduled for completion in 2019.
Resources for more information about Phelan-McDermid syndrome & Intellectual Disabilities
There are several organizations working to address the needs of individuals and families affected by intellectual disabilities with information and support services, including:
Phelan-McDermid Syndrome Foundation
http://www.pmsf.org/
FRAXA Research Foundation
http://www.fraxa.org
National Fragile X Foundation
https://fragilex.org
Autism Speaks
https://www.autismspeaks.org
Organization for Autism Research
http://www.researchautism.org
