International Rett Syndrome Foundation

International Rett Syndrome Foundation exists to transform the lives of everyone affected by Rett syndrome. We accomplish this through the pursuit of advanced and comprehensive research to deliver treatments and ultimately a cure for this disorder. We also provide direct support services to empower the families impacted by Rett syndrome. With over 8000 people in the United States and thousands more across the globe living with Rett syndrome, the need has never been greater. As a rare disease, Rett syndrome was hardly understood just 25 years ago. Since that time, remarkable progress has been made. As the understanding of Rett syndrome increases at an unprecedented pace, the need to disseminate that information to the families who live every day with the effects of Rett syndrome is critical. We are the only Rett syndrome foundation with a bold commitment to empowering families so that they have the tools they need to make the best possible decisions for their child.

International Rett Syndrome Foundation (IRSF) is the only organization dedicated to advancing Rett syndrome research and empowering the families living with Rett syndrome. We work toward our ultimate goal of creating a world without Rett syndrome. A world without Rett syndrome requires the delivery of treatments and a cure for this disorder. IRSF is building the foundation needed to bring these to our Rett syndrome community. Through our Center of Excellence (CoE) network of clinics, and thanks to leadership provided by our Medical Advisory Board, we work to ensure that a national network of Rett syndrome clinics is equipped and prepared to administer and advance clinical trials for Rett syndrome. We develop standardized practices for Rett syndrome patient care, sharing this information with all North American clinics, to improve patient access to excellent care. Additionally, clinical data collected through this network supplements an existing, and already robust, Natural History Study database stewarded by our Foundation. Our aim is continued data collection and the development of a rich Rett Clinical Disease Registry (RDCR), that will provide insight into the natural history of Rett syndrome and insight into effective patient care, while also providing critical information that will support the drug development process. While we focus on infrastructure and data, we never forget that Rett syndrome impacts and entire family. We understand that impact and our Family Empowerment (FE) Program provides our Rett syndrome families with the information, education, and services they need to thrive. Our FE Program ensures that our families are empowered to confidently participate in a clinical trial and that their perspective can be used to influence the development of patient-centric clinical trial protocols. Through our FE Program we provide clinicians, care providers, and families with accessible, reliable, easy to understand information regarding Rett syndrome. We make that information available to anyone across the globe.

As a leading private funder of Rett syndrome research, we have committed over $58M to research to date. We have over 40 Research Grant projects underway. Our Chief Science Officer along with our Scientific Advisory Board and Medical Advisory board are actively working to develop and implement strategies to guide us forward in research and patient care. We also have staff dedicated to meeting the needs of our families. Our small but dedicated staff is responsive and available to provide families with the tools they need to understand and live with Rett syndrome. Each year, hundreds of new parents join the International Rett Syndrome Foundation. Families from over 55 countries across the globe access and utilize the resources found on our website.

Twenty years ago, there was no known cause, treatment or hope for a cure for Rett syndrome. At the turn of the century, the gene associated with Rett syndrome was discovered and during this most recent decade, there has been an immense amount of progress in Rett syndrome research. We currently have multiple compounds in or preparing for clinical trials. As of March 2023, Rett syndrome received its first ever FDA-approved treatment. Our Scout program continues to evolve, screening an unprecedented number of compounds for potential use in Rett syndrome in faster and more cost efficient ways. Our 18 Centers of Excellence continue to drive research forward and deliver specialized clinical care to our families. We continue to develop new platforms for communicating with and empowering our families. From our New Parent program to our online educational programming to facilitate in-home communication skills and physical therapies, we are listening and responding to the needs of all of those affected by Rett syndrome. We have also developed the Rett Research Ready (RRR) Program which utilizes an online, customizable search tool called the myRett trial finder to educate parents, care providers and clinicians on clinical trial opportunities and facilitate discussion on appropriate trial participation.