Orphan Genetic Epilepsies

Genetic disorders can result in orphan epilepsies. We are committed to delivering new and effective treatments to these smaller patient populations, specifically to patients living with Dravet syndrome or Rett syndrome.

Dravet Syndrome

Dravet syndrome, also called severe myoclonic epilepsy of infancy (SMEI), is a severe form of epilepsy. It appears during the first year of life with frequent febrile seizures fever-related seizures. Later, other types of seizures typically arise, including myoclonus (involuntary muscle spasms). Status epilepticus may also occur. Children with Dravet syndrome typically experience poor development of language and motor skills, hyperactivity and difficulty relating to others.1

Treatment

Seizures in Dravet syndrome can be difficult to control. We are developing a potentially life-changing treatment to bring these seizures under control for patients living with the disorder.

Rett Syndrome

Rett syndrome is a neurodevelopmenal disorder that affects girls almost exclusively. It is characterized by normal early growth and development followed by a slowing of development, loss of focused use of the hands, distinctive hand movements, slowed brain and head growth, problems with walking, seizures and intellectual disability.2

Treatment

Currently, there is no cure for Rett syndrome. SAGE is working to deliver treatments to help patients manage their symptoms, including seizures.

References

1) NINDS Dravet Syndrome Information Page. (2011, September 29). Retrieved September 11, 2014.
2) NINDS Rett Syndrome Fact Sheet. (2014, April 16). Retrieved September 11, 2014.