Alan Percy, MD, pediatric neurologist at University of Alabama at Birmingham, discusses the DAFFODIL clinical trial, testing the safety and tolerability of trofinetide for the treatment of Rett syndrome.
Rett syndrome is a neurodevelopmental condition primarily affecting girls. Patients with the disease appear to have normal psychomotor development during the first 6 to 18 months of life. A developmental “plateau” follows, and then rapid regression in language and motor skills. Additional signs and symptoms may include:
- Repetitive, stereotypic hand movements
- Fits of screaming and inconsolable crying
- Autistic features
- Panic-like attacks
- Teeth grinding
- Episodic apnea and/or hyperpnea
- Gait ataxia and apraxia
- Tremors
- Seizures
- Slowed head growth
Classic Rett syndrome is most commonly caused by genetic changes in the MECP2 gene and is usually inherited in an X-linked dominant manner.
As Dr. Percy explains, trofinetide is a synthetic analog of glycine-proline-glutamate (GPE), and was approved by the U.S. Food and Drug Administration (FDA) last year to treat patients with Rett syndrome. The DAFFODIL clinical trial is an open-label study testing the safety and tolerability of oral trofinetide in girls ages two to five with Rett syndrome. Major improvements in the patient’s ability to communicate and hand function were observed in this study.
To learn more about Rett syndrome and other rare neurological disorders, visit https://checkrare.com/diseases/neurology-nervous-system-diseases/