First Ever International Burden of Illness Survey for Rett Syndrome to be Conducted

According to a story from BioSpace, the biopharmaceutical company Newron Pharmaceuticals S.p.A. has announced that is partnering with the Rett syndrome disease community in order to sponsor an all new initiative. This initiative is the Rett Syndrome Burden of Illness Survey, which will be international in scope. Outreach for the survey is slated to begin on November 1st. Newron is focused on the development of treatments for disease that impact the peripheral and central nervous system.

About Rett Syndrome

Rett syndrome is a brain disorder that become 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. Boys who have this mutation typically die soon after being born, so Rett syndrome almost exclusively affects girls. 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 Rett syndrome, and management focuses on maintaining function and alleviating symptoms. Life expectancy for patients is around 40 years. Death often occurs sponatenously, and is often linked to brainstem malfunction, gastric perforation, or cardiac arrest. To learn more about Rett syndrome, click here.

Improving Resources, Understanding Challenges

There is no doubt that the symptom burden of Rett syndrome is severe and debilitating to an overwhelming degree. The ultimate goal is for the survey results to inform that creation of intervention services and programs and to quantify the many challenges that Rett syndrome patients and their families face, be they financial, physical, emotional, or otherwise. The resources available for Rett syndrome and similar rare disorders are limited and as a result they must be of the best quality possible.

While Newron will be sponsoring the survey, the ultimate responsibility for its deployment will fall to Rett syndrome community groups and independent research organizations. The survey results are expected to be published in a variety of medical journals in order to give doctors and clinicians are more accurate understanding of the disease burden that patients face.

Newron is in the midst of developing a treatment for daytime breathing issues in Rett syndrome, called apneas, that can exacerbate other symptoms and can have a severe impact on patient quality of life.


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