Newron Pharmaceuticals is sponsoring a study to evaluate the burden of disease experienced by patients with Rett syndrome and their families.
The announcement was made during the international 2016 Rettsyndrome.org Research Symposium, held in Itasca, Illinois, USA, from June 22, 2016. The expert advisory panel governing the study is comprised of preeminent Rett syndrome specialists, Rettsyndrome.org advocacy leaders and patient families.
“This will be the first international study to characterize the disease, including disease – related quality of life, frequency of clinical events and resource utilization that will evaluate the burden and impact of Rett Syndrome on patients and families. The study will provide detailed information currently unavailable to help guide physicians, caregivers and policy experts about the human and financial cost of this devastating disease,” said Alan K. Percy, M.D., Professor of Pediatric Neurology, Department of Neurobiology at the University of Alabama (UAB) School of Medicine, Birmingham, Alabama, USA., Director of the UAB Sparks Clinics Rett Syndrome Research Program and former Director of the American Board of Psychiatry and Neurology.
Rett syndrome is characterised by severe neurological, respiratory, cognitive, and behavioral symptoms. The rare disease, primarily affecting approximately one in 10,000 females, leads to severe physical and psychological disabilities and many patients require lifelong 24-hour care. However, the impact of the disease on the amount and quality of care required for the management of these patients and the burden of care imposed on the families is currently unknown.
The study will be comprised of two global surveys, one to be completed by 500 caregivers and the other by 50 physicians. Both will examine patient burden, with the caregiver survey additionally evaluating caregiver burden. The surveys are being developed in accordance with regulatory guidance, with the final versions being used for data collection in the United States, the United Kingdom, Italy and Germany.
“This collaborative project is a great example of how advocacy and academia can work together with private and public sectors to gain further insight into Rett syndrome, allowing us to share this insight with the communities affected by this disease,” said Stefan Weber, CEO of Newron Pharmaceuticals.