Rett syndrome: A new drug called trofinetide relieves symptoms of patients with the rare disease that mostly affects females. This was revealed by a study published in the journal Nature Medicine.
These findings, based on data from a Phase 3 clinical trial, make trophinethide the first drug approved by the US Food and Drug Administration for the treatment of Rett syndrome.
This is a rare genetic disorder (caused by mutations in the Mecp2 gene resulting in a loss of protein function) that affects the development of the nervous system. Symptoms of Rett syndrome include loss of speech and motor skills, as well as behavioral problems, seizures, and gastrointestinal problems. There was previously no effective treatment for this disorder. Two previous Phase 2 studies of trophinethide, a molecule similar to the natural growth factor glycine-proline-glutamate found in the brain, have shown potential efficacy in reducing symptoms in small groups of patients.
James Youakim’s group conducted the Lavender study – a phase 3 clinical trial – to test the safety and efficacy of trophinethide treatment. Experts randomly assigned 187 female patients with Rett syndrome to receive trophinethide or a placebo for 12 weeks. They determined treatment effectiveness using the Rett Syndrome Behavior Questionnaire (RSBQ) score, which is an assessment completed by the parent or caregiver that assesses a number of characteristics of the syndrome, including vocalizations, facial expressions, gaze, behaviors repetitive patterns, breathing, nocturnal behaviors, and mood. They also used a physician’s global assessment (the Clinical Global Impression-Improvement Scale) to determine whether the patient has improved or deteriorated. The results revealed significant improvements in scores on both scales, with no serious treatment-related adverse effects. Experts conclude that trophinethide is relatively well tolerated and effective in improving the main signs and symptoms associated with Rett syndrome. These findings were reviewed by the US Food and Drug Administration, which recently approved this drug as the first and only therapy for Rett syndrome.
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