European Commission offers hope for misunderstood intellectual disability and autism condition, FXS

12-Apr-2024 - Last updated on 12-Apr-2024 at 15:41 GMT

The European Commission has granted Orphan Medicinal Product designation for zatolmilast an investigational treatment for Fragile X syndrome (FXS), a leading cause of inherited intellectual disability and autism.

This was announced yesterday (April 12) by the executive officer, Isao Teshirogi, of Shionogi BV, the European subsidiary of Shionogi & Co., Ltd.

Pete Richardson, managing director, UK Fragile X Society, said: “FXS is a frequently misunderstood condition and too often individuals and families struggle to gain access to the support they need from health and social care systems. Individuals with FXS can face wide-ranging challenges both from the condition itself, where there is a range of symptoms which can limit their ability to independently care for themselves or communicate with others, as well as a lack of awareness and understanding by healthcare professionals and the broader public.”

He added that this Orphan Medicinal Product designation offers potential hope for a new treatment option which, although not necessarily suitable for all those with FXS, could improve the wellbeing of individuals and families living with the condition.

Orphan Medicinal Product designation is granted to treatments that potentially offer significant benefit for life-threatening or chronically debilitating conditions with a prevalence of fewer than five in 10,000 individuals in Europe. While there are more than 30 million people in Europe impacted by rare diseases, they are often denied diagnosis, treatment, and the benefits of research, making this designation a significant milestone for disorders like FXS.

FXS is a neurodevelopmental disorder that can cause a range of cognitive, behavioral, and physical challenges, including those that persist across many aspects of daily life, such as an individual’s ability to care for themselves and communicate with others. Despite the sometimes-profound impact of FXS on individuals, there are no pharmacological treatments specifically approved by the European Medicines Agency for the treatment of FXS, highlighting the currently unmet need for innovative medicines for this community.

Juan-Carlos Gomez, chief medical officer, at Shionogi said: “We are committed to bringing to market new and innovative medicines that improve lives and create solutions for rare pediatric and orphan diseases that are often overlooked. We welcome this regulatory designation in Europe, which recognizes the potential clinical benefit of zatolmilast. This is a significant step forward in helping to bring this medicine to those who may benefit from it.”

Shionogi is dedicated to the research and development of innovative medicines that address unmet medical needs, particularly for patients who currently have limited treatment options. In alignment with this global vision, Shionogi acquired Tetra Therapeutics, the developer of zatolmilast, in 2020. Zatolmilast, if approved, aims to become the first cognitive treatment developed specifically for this rare genetic disorder.

FXS is known to have a greater effect on males than females because the mutation of the Fragile X Messenger Ribonucleoprotein 1 (FMR1) gene is carried on the X chromosome. An important clinical feature abnormality associated with FXS is global developmental delay and intellectual disability. Other common symptoms of FXS include behavioral problems, attention deficits, and anxiety. FXS can cause challenges across many aspects of daily life, such as an individual’s ability to care for themselves and communicate with others.