Clayton, MO, April 19, 2022 —Today, April 19, 2022, The Snow Foundation for Wolfram Syndrome Research and the National Organization for Rare Disorders, Inc. launched the largest-ever study to research Wolfram syndrome, a disease that causes diabetes insipidus, diabetes mellitus, optic atrophy, and deafness as well as various other possible disorders. Wolfram syndrome currently has no cure.
The new study, Wolfram Syndrome Global Patient Registry, creates a platform for patients around the world to share information about Wolfram syndrome. Its purpose is to build an international resource to be used by scientists in future research. Wolfram syndrome is a rare genetic disorder that occurs in approximately one in 200,000 to 500,000 people. Wolfram syndrome is often fatal by mid-adulthood due to complications from the many features of the condition, such as health problems related to diabetes or neurological problems. It is crucial to discover and clinically test successful treatment options with the aim to stop the progression of the disease, but rare disease is often overlooked by pharmaceutical innovators from developing products for extremely small patient populations, financial support continues to be the single limiting factor to help patients.
The Snow Foundation for Wolfram Syndrome Research is empowering families with Wolfram Syndrome to help move research forward. To help drive awareness and participation, The Snow Foundation will promote the first-ever WS global patient owned registry via our social media outlets.
“Our goal is to enroll as many patients, or their parents or legal guardians, as possible,” said Dr. Sarah Gladstone. “The success of the registry is dependent upon community participation.”
Wolfram Syndrome Global Patient 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. The data is made anonymous and stored securely in an online portal called a registry. The Snow Foundation may share the data with individuals or institutions conducting research or clinical trials, as approved by the study’s governing board that includes scientists, doctors and patient advocates.
The Snow Foundation for Wolfram Syndrome Research is launching the study in collaboration with the National Organization for Rare Disorders (NORD), an independent charity that built its natural history study platform as part of its mission to help identify and treat all 7,000 rare diseases. The Snow Foundation is a member of NORD, and the organizations work together to eliminate the challenges that rare disease patients face.
“This new registry has tremendous promise as a strong partnership that engages the patient community and addresses current knowledge gaps for [disease]. NORD is thrilled to be a part of driving research and innovation-based outcomes for all of the families in the Wolfram syndrome community,” said Aliza Fink, Director of Research Programs, NORD.
For more information, visit http:/thesnowfoundation.org/wsglobal-patient-registry/.
About The Snow Foundation for Wolfram Syndrome Research
The Snow Foundation is a collective voice for Wolfram syndrome patients, working towards a cure for Wolfram syndrome and developing novel therapies for diabetes, vision loss, hearing loss, and neurodegeneration. We are proud to be partnering with NORD to implement the first-ever Wolfram syndrome global patient owned registry, a priority in the field of rare disease. Our goal is to improve patient care, strengthen our voice, and improve the chance for quicker drug development. The Snow Foundation’s goal is to create a world without Wolfram syndrome.
About National Organization for Rare Disorders (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 15,000 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.