October 2024

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We are thrilled to announce that our team of researchers has just initiated a Natural History Study for ULD/EPM1! This is an amazing opportunity for patients and families around the world to help researchers better understand Unverricht-Lundborg Disease (EPM1). Patient participation in this study is key to its success. Researchers are hoping that every family in the US who is living with ULD will participate, as well as many international patients. After the successful mouse trials, and publication of the results, this is the next crucial step in stopping the suffering caused by ULD. The study is here: ULD/EPM1 Natural History Study.

 

The Harvard researcher, Darius Ebrahimi-Fakhari, MD, PhD, is conducting this study from Boston Children's Hospital, in partnership with the Minassian Lab at University of Texas Southwestern. Participating patients will not need to travel to Boston. You can participate from your location in the US and around the world! If interested in taking part in this study, please contact Joshua Rong, BS, at this email: Joshua.Rong@childrens.harvard.edu .

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Included in this study is the establishment of a US biobank for ULD/EPM1. US patients will  be able to take part in the biobank. International patients can now fully particiapte in the study, with the exception that researchers can not include their samples in the US biobank, due to logistics, regulations, etc. Do not miss this opportunity to help researchers end the suffering caused by ULD!

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July 2024

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Researchers are interested in identifying patients with ULD (EPM1). As they collaborate with fellow researchers around the world, they are seeking to gain a greater understanding of how many people have ULD (EPM1) and the incidence of various types of mutations. Hope for ULD is helping to answer this question by surveying patients. As stated previously, the responses will be collected and viewed by members of the Hope for ULD board. No identifying information will be shared externally without further consent. De-identified information may be shared with Hope for ULD's clinical partners. Please click here for the ULD (EPM1) Patient Survey. If you have already filled out a ULD (EPM1) Patient Research Interest Form, you do not need to fill out this form. Your information was already recorded.​

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February 2024

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If you or a family member with ULD (EPM1) are interested in possible participation in research aimed at developing therapies for Unverricht-Lundborg Disease (EPM1), please submit this form. Responses will be collected and viewed by members of the Hope for ULD board. No identifying information will be shared externally without further consent. De-identified information may be shared with Hope for ULD's clinical partners. Click here for the form.

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December 2023

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We give you the most amazing Christmas present! Results of the ULD gene therapy research at the Minassian lab have been published! Congratulations to Mayank Verma, MD/PhD, Dr. Berge Minassian, and all the researchers! And to every single person who donated money to Hope for ULD for this research, we express our very deepest gratitude! You had a part in making this happen! Those patients and families who are interested in participating in upcoming research, we will be gathering information very soon. Stay tuned! Click to see research results!

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April 2023

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The Minassian Lab at UT Southwestern is continuing to conduct ULD gene therapy research. Currently, researchers are continuing to work on determing optimal ages and dosages for the administration of the gene therapy drug. Mouse trials continue. In the past, Dr. Berge Minassian was able to secure funding from two biotech companies, to help fund the past several years of research. Hope for ULD has contributed $80,000 to this research so far. 

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Inital research in the Minassian lab yielded exciting results. The gene therapy did have an impact on the effects of the disease in mice. Researchers were very encouraged, and they initiated additional research, designed to get more information regarding variations in subject ages and dosages.

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At the end of 2021, a biotech company had expressed interest in continuing to fund research all the way to human clinical trials (which would likely total around $10 million.) We were momentarily very relieved. Unfortunately, Dr. Minassian recently received news that this company is no longer in the position to fund more research. His lab is currently involved in ongoing research at the Phase I B (mouse trial) level. They have initiated additional research at this level to gather more information. In order to finish this current work, the Minassian lab will need an additional $400,000. It is now up to us to raise the $400,000 necessary for them to complete this current phase of research.

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February 2018

 

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.

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INITIAL PLAN FOR GENE THERAPY RESEARCH AND TRIALS

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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:

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

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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).

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PHASE III:  Assist in the fundraising effort of $10 million to conduct a small human clinical trial.

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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.