In partnership with the Rett syndrome community, Newron Pharmaceuticals has launched a groundbreaking International Rett Syndrome Burden of Illness Survey.
The first of its kind, the study will examine the physical, emotional, and financial impact of Rett syndrome on patients, families, and caregivers. Its findings are expected to increase awareness and help identify treatments, programs, and other resources for the disorder.
Under the banner “The Voices of Rett,” the online survey, which takes about an hour to complete, is open in the United States and will launch in Europe early next year. For privacy purposes, information will be collected anonymously.
Eligible participants include primary caregivers of at least one patient who is being cared for at least 10 hours weekly, and healthcare providers who have treated at least five Rett patients in the last five years.
“Individuals with Rett syndrome have very different physical challenges and needs from other illnesses,” Melissa Kennedy, executive director of Rettsyndrome.org, one of the survey collaborators, said in a press release. “Today, there are few resources available for Rett patients and their families. Each family is left to carve their own way to find the resources they need to care for their loved one. That is why this survey is vitally needed.”
The survey is being conducted by an independent international clinical research organization in collaboration with Rett syndrome advocacy groups globally and an advisory panel of experts that includes physicians, scientists, advocacy representatives, and caregivers.
The study’s design was presented Oct. 22 at the 26th Annual Conference of the International Society for Quality of Life Research. Survey results will be published in academic journals.
“This comprehensive caregiver and healthcare provider survey will be the most accurate and meaningful way of assessing the overall burden of this illness,” said Dennis Dionne, Newron’s vice president of commercial affairs. “It will provide crucial, objective information to policymakers and other healthcare decision-makers so that they can better support the resources, services, and therapies needed for Rett syndrome patients and caregivers.”
Beyond this survey, Newron is conducting a Phase 2 clinical trial (NCT02790034) testing the safety, tolerability, and efficacy of sarizotan (10 to 20 mg) as a potential oral treatment for breathing problems in Rett patients.
The study, named STARS — Sarizotan Treatment of Apneas in Rett Syndrome — is ongoing in the U.S., United Kingdom, Italy, India, and Australia. It includes over 130 participants age 4 and older with Rett syndrome. Following a double-blind period comparing sarizotan with placebo, participants had the opportunity to receive the therapy in an open-label extension study.
Early results indicated that the treatment is well-tolerated and that 70% of patients experienced significant breathing improvements.
Sarizotan, originally developed by Merck KGaA (not affiliated with Merck & Co.), works by binding to specific receptors of the neurotransmitters serotonin and dopamine. Work in mouse models of Rett syndrome suggests that Sarizotan may normalize serotonin levels in the brain (typically lower in these patients) and restore normal breathing.