This Nonprofit’s Clinical Trial Committee Aims to Help Rett Syndrome Drug Development

According to a story from, the International Rett Syndrome Foundation (IRSF) has announced the launch of its Clinical Trial Committee. The committee was implemented with the goal of helping drug developers implement effective designs for Rett syndrome clinical trials. The committee has recently completed its first protocol review. The committee consists of caregivers and IRSF Center of Excellence directors. 

About Rett Syndrome

Rett syndrome is a brain disorder that becomes evident early in the lives of its female patients. The disease is caused by a genetic mutation that affects the MECP2 gene. This gene is found on the X chromosome. Males who have this mutation typically die soon after being born, so Rett syndrome almost exclusively affects females. It occurs as a spontaneous mutation in the vast majority of cases and is rarely inherited from parents. Symptoms include sleeping issues, difficulty speaking, poor coordination, scoliosis, seizures, small head size, slow growth, and repetitive movements. There is no cure for the syndrome, and management focuses on maintaining function and alleviating symptoms. Life expectancy for patients is around 40 years. Death often occurs spontaneously, and is often linked to brainstem malfunction, gastric perforation, or cardiac arrest. To learn more about Rett syndrome, click here.

About the IRSF Clinical Trial Committee

The committee aims to give in-depth reviews of clinical trial protocols. The goal is to ensure clinical trials going forward that uphold scientific rigor while also accounting for the realities of the Rett syndrome patient population. Ultimately, the goal is to improve the chances for clinical trial success. The Clinical Trial Committee will allow for drug developers to obtain comprehensive input and feedback from a diverse group of stakeholders in a single meeting. In the past, these developers often met with investigators, clinicians, and others in a much more piecemeal fashion.

Thanks to breakthroughs being made in the field of Rett syndrome research, the interest in developing a therapy for the disorder has increased greatly. As an example, the number of companies that are currently investing in drug development has reached twenty or more, compared to just one eight years ago. During this time, the IRSF has played an important role in fostering relationships among physicians and patients’ families, which are critical for the success of the committee.

To learn more about the IRSF, click here.

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