About Hope for ULD™

Hope for ULD is an organization that is uniting patients, families, doctors, and researchers in an effort to fund research, treatment, and education for Unverricht-Lundborg Disease (ULD). There is no known cure, and the disease progresses, despite all known treatments. As ULD is a genetic disease, recent advances in gene therapy suggest that this technology could be a promising treatment, and potential cure, for the disease. The primary goal of Hope for ULD is to raise money to fund gene therapy research and treatment under the direction of neurologist Dr. Berge Minassian and molecular biologist Dr. Steven Gray. Dr Berge Minassian is the Chief of Pediatric Neurology at the University of Texas Southwestern Medical Center and head of the Neurosciences Center at Children's Health in Dallas. Dr. Steven Gray is a molecular biologist whose area of expertise is AAV gene therapy vector engineering, focusing on delivering genes to the nervous system. He is also with University of Texas Southwestern, partnering with Dr. Minassian in groundbreaking gene therapy research.


In this ULD gene therapy model, a virus would be used for the purpose of carrying a good CSTB gene and transmitting it safely into cells which currently have only two mutated, recessive copies of the CSTB gene. The virus would not replicate. Its only purpose would be to carry the good gene and transmit it into human cells. Hope for ULD seeks to assist in raising the funds that are necessary to initiate this gene therapy research and treatment. Our fundraising goals are as follows:

PHASE I:  Raise $300,000 to develop gene therapy specific to ULD. Once developed, it is tested for safety and efficacy.

PHASE II:  Assist in the fundraising goal of $1.5 to $2 million, which will fund the drug manufacturing (which is the creation of a human grade virus that will be designed to carry the good gene to cells in the human body).

PHASE III:  Assist in the fundraising effort of $1 million to conduct a small human clinical trial.

As ULD is frequently misdiagnosed, its symptoms and severity are often misunderstood within the medical community. Several commonly prescribed anticonvulsants are known to accelerate the progression of ULD, worsening the patient’s symptoms. This makes early diagnosis of the disease critical. ULD is most commonly mistaken for Juvenile Myoclonic Epilepsy. The combination of debilitating seizures, neurodegenerative physical challenges, serious injuries, and psychiatric comorbidities create enormous challenges for patients and their families. Due to the rarity of ULD, patients and families suffering with this disease often feel isolated. The secondary goal of Hope for ULD is to promote education and awareness – particularly within the medical community – regarding the necessity of early diagnosis, as well as the wide range of physical, cognitive, emotional, behavioral, and psychiatric issues that can be caused by this disease.