First approved treatment for Rett syndrome: potential hope for patients with MECP2 duplication syndrome?

10 March 2023 marks a very important date for the rare disease community.

Trofinetide has been approved by the FDA for the treatment of patients with Rett syndrome, making it the very first treatment for this condition. Rett syndrome. The drug, marketed as Daybue™, is expected to be commercially available in the US by the end of April 2023 for patients over the age of 2.

Trofinetide is a tripeptide derived from a protein called insulin-like growth factor-1 (IGF-1). It can be administered orally. The drug is thought to reduce inflammation and improve communication between neurons in the brain, which is impaired in people with Rett syndrome. Phase III clinical trials have shown that trofinetide improves various symptoms of Rett syndrome, including social communication, behaviour and hand function.

Although the underlying genetic cause of MECP2 duplication syndrome (MDS) is different from that of Rett syndromeBoth syndromes involve a mutation in the MECP2 gene. Rett syndrome affects mainly girls and has insufficient levels of active MeCP2 protein, while MECP2 duplication syndrome, diagnosed mainly in boys, results in higher levels of the protein. Both Rett and MDS result in impaired brain development and function, leading to similar symptoms such as intellectual disability, coordination problems and seizures.

As a result, scientific advances in Rett syndrome are helping to increase knowledge about MDS. The approval of Daybue™ would enable further research into the use of Trofinetide in patients with MECP2 duplication syndrome.

The fight is not over for MECP2 gene duplication syndrome. Contribute to advancing research on a treatment for MDS by donating, raising awareness on the syndrome, and joining our actions!