Translation of Trinity research leads to FDA approval of Rett syndrome treatment

Posted on: 06 April 2023

Research completed at Trinity’s School of Medicine has led to the U.S Food and Drug Administration’s approval of a promising new treatment for the rare neurodevelopmental disorder, Rett syndrome, or RTT.

Rett syndrome (RTT) is a profoundly debilitating and complex, rare, disorder that presents differently across patients and can lead to an array of unpredictable symptoms throughout the course of a patient’s life.

RTT is associated with mutations in the gene MECP2, which controls symptoms present in many patients: limited mobility and communications, seizures, inability to control their movements, cardio-respiratory dysfunction, skeletal abnormalities and other comorbidities. These symptoms will leave patients dependent on care for the remainder of their lives.

Patients with RTT are mostly females (1:10,000) and there are believed to be about 300 cases of RTT in Ireland (and between 6,000 and 9,000 cases in the U.S.). Although rare, RTT is considered a model to study neurodevelopmental disorders, and scientific and industry stakeholders have been watching closely the developments made in the treatment for RTT. That is why, families of patients rejoiced recently at the news of the U.S Food and Drug Administration (FDA)’s approval of the first treatment for RTT: 

This story is a rare example of success in translational research where findings in basic science translate into clinical applications. The new treatment compounds were first identified for application to Rett Syndrome in preclinical research, performed by Dr Daniela Tropea during her time at Massachusetts Institute of Technology (MIT). She completed the work following her move to the School of Medicine at Trinity. Several clinical trials confirmed their efficacy in multiple conditions and represents a milestone not only for RTT, but its broader applications. The current approval is effective only for FDA and Canada for the next five years. 

Dr Daniela Tropea is Associate Professor in Molecular Psychiatry at Trinity College, where she continues the research on molecular targets for the treatment of neurodevelopmental conditions. She said: 

”This is the demonstration that collaborations between scientists, clinicians, funding agencies and patients associations bring huge advancements in treatments. This is just the beginning for the discoveries of new treatments not only for RTT, but for other brain disorders.”

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