Aug. 3, 2022
Posted by Rohan Narayanan
Wasilla, Alaska, August 3, 2022—All Things Kabuki and the National Organization for Rare Disorders, Inc. have launched a study with global reach to research Kabuki syndrome, which causes a variety of complications which may include mild to moderate intellectual impairment, growth delay, skeletal abnormalities, heart defects, hearing impairment, hypotonia, feeding and immune deficiencies. Kabuki syndrome currently has no cure or syndrome specific drug therapies available.
The new study, Kabuki Syndrome Registry, creates a platform for patients around the world to strengthen their voices and provide critical information about their experiences living with Kabuki syndrome. Its purpose is to build an international resource to be used by scientists and provide data for researchers to use to advance drug development and treatment options to help improve Kabuki syndrome patient care. The Registry is a natural history study that consists of electronic surveys to collect information about the patient experience and disease progression. Patients, or their caregivers or guardians, can enter information from anywhere in the world.
“We are excited to offer this valuable resource to the Kabuki syndrome community,” says Rene King, Founder and CEO of All Things Kabuki. “Our goal is to enroll as many patients, or their parents or legal guardians, as possible as the success of the registry is dependent upon community participation.”
Kabuki syndrome is a rare genetic disorder that occurs in approximately one out of every 32,000 people worldwide. Children and adults affected by Kabuki Syndrome often experience a variety of symptoms, however the disease affects each patient differently. Kabuki Syndrome can be clinically or genetically diagnosed. There are currently two genes known to cause Kabuki Syndrome; KMT2D and KDM6A.
For more information, visit kabuki.iamrare.org.
About All Things Kabuki
All Things Kabuki (ATK) is the only U.S. non-profit patient advocacy organization supporting individuals and families affected by Kabuki Syndrome globally. All Things Kabuki was formed in 2013 and incorporated in 2015. ATK is a volunteer run organization with parent advocates across the nation. ATK strives to promote awareness for Kabuki Syndrome while supporting families and working with scientists pursing a treatment for the disorder.
About National Organization for Rare Disorders, Inc. (NORD®)
The National Organization for Rare Disorders (NORD) is the leading independent advocacy organization representing all patients and families affected by rare diseases in the United States. NORD began as a small group of patient advocates that formed a coalition to unify and mobilize support to pass the Orphan Drug Act of 1983. Since then, the organization has led the way in voicing the needs of the rare disease community, driving supportive policies, furthering education, advancing medical research, and providing patient and family services for those who need them most. Together with over 300 disease-specific member organizations, more than 17,000 Rare Action Network advocates across all 50 states, and national and global partners, NORD delivers on its mission to improve the lives of those impacted by rare diseases. Visit rarediseases.org.