Trofinetide – Rett syndrome
Trofinetide is a novel synthetic analog of the amino‐terminal tripeptide of IGF-1 designed to treat the core symptoms of Rett syndrome by reducing neuroinflammation and supporting synaptic function. ACADIA has an exclusive license to develop and commercialize trofinetide in North America from Neuren Pharmaceuticals.
About Rett syndrome
Rett syndrome is a debilitating neurological disorder that occurs primarily in females following apparently normal development for the first six months of life. Rett syndrome has been most often misdiagnosed as autism, cerebral palsy, or non-specific developmental delay. Rett syndrome is caused by mutations on the X chromosome on a gene called MECP2. There are more than 200 different mutations found on the MECP2 gene that interfere with its ability to generate a normal gene product. Rett syndrome occurs worldwide in approximately one of every 10,000 to 15,000 female births (6,000 to 9,000 patients in the U.S.) causing problems in brain function that are responsible for cognitive, sensory, emotional, motor, and autonomic function. Typically, between 6 to 18 months of age, patients experience a period of rapid decline with loss of purposeful hand use and spoken communication and inability to independently conduct activities of daily living. Symptoms also include seizures, disorganized breathing patterns, an abnormal side-to-side curvature of the spine (scoliosis), and sleep disturbances. Currently there are no approved medicines for the treatment of Rett syndrome.
In October 2019, we initiated the pivotal Phase 3 LAVENDER study. This is a 12-week double-blind, randomized, placebo-controlled study that will evaluate the efficacy and safety of trofinetide and placebo in approximately 180 girls and young women ages 5 to 20 years with Rett syndrome. Half of study participants will receive trofinetide and half will receive placebo. The study will use the Rett Syndrome Behaviour Questionnaire (RSBQ), a caregiver assessment and the Clinical Global Impression Scale-Improvement (CGI-I), a clinician assessment of the improvement of Rett syndrome as co-primary efficacy endpoints.
All patients completing the LAVENDER study may be eligible for the LILAC study, a 40-week extension study in which all participants will receive trofinetide and followed to evaluate long term tolerability, safety, and effectiveness of the drug.
Trofinetide has been granted Fast Track Status and Orphan Drug Designation for Rett syndrome in the U.S. and Orphan Drug Designation for Rett syndrome in Europe.
Rett Community Updates
- October 30, 2019 update
- February 3, 2019 update
- July 31, 2019 update
- December 20, 2018 update
- May 1, 2019 update