Parents of children affected by Phelan-McDermid syndrome (PMS) announce the formation of CureSHANK, a nonprofit organization on a mission to accelerate drug development in PMS and other diseases related to the SHANK genes for which there are currently no FDA approved treatments. As one of a small handful of known monogenic causes of autism, PMS presents an excellent launch pod to develop disease-modifying therapies not only for the syndrome but also for other SHANK related diseases and forms of autism.
Phelan-McDermid syndrome, estimated to occur in 1 in 15,000 children, is a rare genetic condition caused by deletions or mutations of the SHANK3 gene. The condition causes intellectual disability and autism. SHANK3 is one of the most common genes associated with autism spectrum disorder, occurring in approximately 2% of individuals with both autism and intellectual disability. SHANK3 is also implicated in schizophrenia and Alzheimer's disease. The proteins encoded by SHANK3 and related SHANK genes, SHANK1 and SHANK2, are found in synapses, the junctions between brain cells that allow them to communicate with each other. Disorders of the SHANK genes, referred to as Shankopathies, represent an opportunity for developing targeted treatments and gene therapy.
In an effort to stimulate development of therapies for Shankopathies, CureSHANK has filed a 1023 application with the Internal Revenue Service for 501(c)(3) tax-exempt status and has launched fundraising efforts. Geraldine Bliss, a parent of a child affected by Phelan-McDermid Syndrome and former research chair and board member of the Phelan-McDermid Syndrome Foundation (PMSF) will lead CureSHANK on a volunteer basis. "We are focused on moving promising ideas from academia into industry, where, with the collaboration of stakeholders from a variety of fields, we will be able to speed the delivery of effective therapeutics to our children," says Ms. Bliss. "The development of research tools such as brain organoids from patients' cells, as well as multiple rodent and primate models of Phelan-McDermid Syndrome, has enabled us to earnestly set our sights on disease-modifying treatments."
Ms. Bliss and her co-founders, Abby Lievense and Paulina Rychenkova, expect to raise several million dollars $5 million over the next three years. "We are enhancing the traditional philanthropic model of funding research through donations by forming innovative partnerships with diverse stakeholders, including emerging and established life sciences companies, essential to developing breakthrough treatments," says Dr. Rychenkova, adding: "Our objective is to greatly expand the resources available for research on our children's life-altering genetic condition."
There are currently no FDA approved treatments for any Shankopathies. Patients are monitored for management of multiple developmental and medical conditions, which can include epilepsy, mood disorders, developmental regression, and global developmental delay.
Ms. Lievense, a former board member of PMSF says:
It is a heartbreaking journey for families. My son, Darus, has suffered from severe regression in all areas of development. I would do anything to help him recover those skills, and I believe that a better life is within reach for him through the work we're undertaking at CureSHANK."
Some genetic mutations may offer protection against developmental disorders