Stoke Therapeutics and Acadia Pharmaceuticals Collaborate to Develop Medicines for Rare Neurodevelopmental Disorders

Stoke Therapeutics and Acadia Pharmaceuticals made a joint announcement this week through Business Wire of their collaboration in the development of RNA-based medicines to potentially treat rare neurodevelopmental disorders of the central nervous system. Neurodevelopmental disorders comprise disabilities affecting a child’s brain causing memory and learning deficits, such as ADHD and autism.

Notably, SYNGAP1 and Rett syndrome are included in the planning.

About SYNGAP1 Syndrome

SYNGAP1 syndrome usually occurs in young children and results in delayed development of motor skills, speech, and intellectual disability.

The SynGAP protein is produced by the SYNGP1 gene. Normal levels of the protein are necessary for basic development and function of the brain.

Mutations were first discovered in the SYNGAP1 gene in 2009 and are responsible for epileptic encephalopathies. The disorder is identified by diseases such as autism spectrum, epilepsy, intellectual disability, and other abnormalities affecting a child’s behavior.

With respect to SynGAP1 cases, one abnormal copy of the gene can cause haploinsufficiency, which is half the gene’s normal level. Under these circumstances, the cell is not able to function normally. Haploinsufficiency of the SynGAP1 gene is reported in over eighty percent of cases of SynGAP1 syndrome. These abnormal genes are usually spontaneous (not inherited).

The onset and severity of the disorder may vary among patients.

No treatments have been approved for SYNGAP1 as yet.

About Rett Syndrome

Rett syndrome usually occurs in females between the ages of six to eighteen months. The disorder affects brain function in almost every aspect of a child’s life, including walking, speaking, respiration, scoliosis (curvature of the spine), and sleep disorders.

The disorder is a result of X chromosome mutations which bind to a gene named MECP2. Over two hundred mutations on the MECP2 gene disrupt the generating of functional molecules (proteins).

It is often misdiagnosed as cerebral palsy or autism.

As of yet there is no available FDA approved therapy.

Information about the third RNA based medicine in development is yet to be disclosed.

About Dravet Syndrome

Dravet syndrome is a genetic treatment resistant epilepsy marked by febrile seizures (feverish convulsions) beginning in the child’s first year. At the onset of symptoms, the child exhibits delays in development and other symptoms that are similar to autism spectrum.

Ninety percent of children with Dravet syndrome have a mutation in a gene named SCN1A that affects neurons (brain cells).


Stoke has exclusive rights (proprietary) to TANGO’s research of gene output in diseases. One copy of a gene may function normally, but the other gene is mutated (haploinsufficiencies). When the genes do not produce enough protein, disease occurs.

Stoke researchers designed antisense oligonucleotides (ASOs) that can alter mRNA and increase protein output in healthy genes. This mitigates mutant gene output.

Stoke Therapeutics

Stoke Therapeutics is also developing treatment for ADOA, a common disorder of the optic nerve. Stoke’s ongoing work in Dravet syndrome and its proprietary TANGO research combined with Acadia’s exceptional accomplishments in neuroscience will aid in the development of neurological drugs.

Acadia Pharmaceuticals

Acadia has a twenty-five-year history in healthcare. Acadia’s efforts have been centered on treating symptoms of Rett syndrome, dementia, and schizophrenia. The company is focused on approaches to cognition, pain management, neuropsychiatric symptoms, and disorders of the central nervous system.

Rose Duesterwald

Rose Duesterwald

Rose became acquainted with Patient Worthy after her husband was diagnosed with Acute Myeloid Leukemia (AML) six years ago. During this period of partial remission, Rose researched investigational drugs to be prepared in the event of a relapse. Her husband died February 12, 2021 with a rare and unexplained occurrence of liver cancer possibly unrelated to AML.

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