Get to Know The LCC Foundation

About LCC/Labrune syndrome

LCC/Labrune syndrome is a rare, progressive neurodegenerative disorder characterized by a unique combination of leukoencephalopathy, cerebral calcifications, and cysts (hence the name LCC). This disease primarily affects the brain's small blood vessels, leading to gradual damage in white matter, which can cause a range of neurological symptoms including seizures, cognitive decline, and motor dysfunction. The syndrome is caused by mutations in the SNORD118 gene, which were identified as the root cause in 2016. This gene plays a critical role in the formation of small nucleolar RNAs (snoRNAs), which are involved in modifying other RNA molecules, particularly ribosomal RNA. Mutations in SNORD118 disrupt this process, leading to the buildup of abnormal deposits (calcifications) and the formation of cysts in brain tissue, as well as white matter damage.

LCC/Labrune syndrome is extremely rare, with only about 65 documented cases worldwide, making it difficult to establish precise incidence and prevalence. However, it is considered to be part of a group of genetic disorders that result in cerebroretinal microangiopathy, sharing similarities with conditions like Coats plus syndrome. The age of onset and severity of symptoms can vary significantly, but many patients experience early symptoms in childhood or adolescence.

Clinical Features of our Community

LCC/Labrune Syndrome is a complex and progressive neurodegenerative disease, with a wide array of clinical features that severely impact quality of life. The most prominent symptoms include seizures, motor dysfunction, cognitive decline, and other neurological issues that arise from damage to the brain’s white matter. Many patients experience difficulties with coordination, balance, and muscle weakness, often leading to mobility challenges. Epileptic seizures are a common feature and can vary in frequency and intensity. These seizures, combined with other neurological deficits, contribute to the progressive decline in cognitive abilities, which often affects memory, attention, and reasoning. This cognitive impairment can be particularly distressing for both patients and families, as it reduces independence and requires increased caregiving support over time. Additional symptoms include headaches, visual disturbances, and speech difficulties, which further complicate daily living. The buildup of calcium deposits and cysts in the brain leads to recurring neurological episodes, causing constant monitoring and medical interventions.

Comorbidities in LCC/Labrune Syndrome may include mood disorders, such as depression and anxiety, resulting from the chronic nature of the disease and the physical and cognitive decline it causes. Some patients also experience gastrointestinal issues, fatigue, and general malaise.Living with LCC/Labrune Syndrome can feel isolating due to the rarity of the disease and the progressive nature of its symptoms. Families often face the emotional toll of watching loved ones lose cognitive and physical abilities, while also dealing with the lack of clear treatment options. Support communities and rare disease networks are crucial for sharing experiences, providing emotional support, and advocating for research and awareness of this devastating condition..

Our Mission

The LCC Foundation is a dedicated organization aimed at supporting individuals and families affected by this rare neurodegenerative disease. Founded to address the lack of information and support available for those living with LCC/Labrune Syndrome, our mission is twofold: to provide comprehensive support for patients and families, and to promote research that advances understanding and treatment of this condition. We serve as a global organization, working across the US and beyoond to connect families with resources, medical expertise, and each other. Our community is at the heart of what we do. Through online support groups, regular updates on research developments, and access to educational materials, we strive to empower those affected by LCC/Labrune Syndrome. We understand the challenges that come with managing a rare condition, and our goal is to foster a supportive environment where no one has to navigate this journey alone. In addition to providing direct support, we are actively involved in research initiatives. We collaborate with our leading Physician-Scientist, Dr. Jamie Fraser and her team, to drive forward new discoveries. One of our key accomplishments has been supporting the development of a mice model for LCC/Labrune Syndrome, a breakthrough that holds the potential to unlock new therapeutic strategies. Although we are a relatively young organization, we have quickly grown in reach and impact. We are committed to raising awareness about LCC/Labrune Syndrome within the medical community and advocating for increased research funding. Our long-term vision is to improve the quality of life for all those affected, while moving closer to finding effective treatments—and, ultimately, a cure.

I am Especially Proud of...

One of the proudest accomplishments for The LCC Foundation has been our direct involvement in the development of the world’s first mice model for LCC/Labrune Syndrome. This groundbreaking achievement represents a monumental step forward in the research and understanding of this rare and complex neurological disease.The creation of a mice model is particularly significant because, until recently, there were few ways to study the disease’s progression in a controlled laboratory setting. LCC/Labrune Syndrome is caused by mutations in the SNORD118 gene, but translating that genetic understanding into viable research tools had been a major challenge. By developing this model, researchers now have the ability to replicate the disease's effects and study its pathology, giving us insights into how the mutation leads to neurological damage, and most importantly, how we can intervene.This accomplishment is not only a scientific milestone but also a source of immense hope for our community. For the first time, we can begin to explore treatment strategies, including the testing of potential therapies, in a way that wasn't possible before. Our community—composed of patients, families, and researchers—has rallied around this breakthrough, knowing that it brings us closer to improving outcomes for those affected by LCC/Labrune Syndrome.We are immensely proud to have played a role in making this vital research tool a reality, and it has strengthened our commitment to driving forward research that will ultimately lead to better treatments and, one day, a cure.

Excited to REN Because...

The Rare Epilepsy Network (REN) offers a unique and powerful platform for collaboration, and we believe it will be a game changer for the LCC/Labrune Syndrome community. As a rare disease organization, we know how isolating it can feel for patients and families who have limited access to specialized care and resources. REN’s mission to foster collaboration across the rare epilepsy landscape aligns perfectly with our goals, and we see enormous potential in how it can help our constituents. One of the most exciting opportunities REN brings is the ability to connect with other rare epilepsy communities, sharing knowledge and strategies that can benefit all rare epilepsy groups. Many of the symptoms and challenges faced by LCC/Labrune Syndrome patients—such as seizures, cognitive decline, and motor dysfunction—are common across other rare epilepsies. By collaborating through REN, we can learn from those who have found effective ways to manage these symptoms, and we can also contribute our unique insights. Additionally, REN’s emphasis on data sharing and research collaboration is something we are particularly excited about. The more data that is gathered on rare epilepsies, the closer we get to discovering potential treatments. REN's network could help expand research into LCC/Labrune Syndrome by linking us to researchers with relevant expertise, pooling resources, and accelerating the search for new therapeutic approaches. This is critical in advancing clinical trials and increasing awareness within the broader medical community. Most importantly, REN will provide a larger voice for the LCC/Labrune Syndrome community, allowing us to advocate more effectively for research funding, clinical attention, and patient support. We are excited to be part of this collective movement, which has the potential to improve the lives of individuals affected by LCC/Labrune Syndrome and other rare epilepsies.

My Journey and Motivation...

For me, this journey began with a deep desire to understand what was happening to my son, Ben. I first became involved with LCC/Labrune Syndrome when Ben was diagnosed in April of 2021. We right away experienced immense challenges—the uncertainty, the lack of treatment options, and the emotional toll of watching Ben's health decline without clear solutions. What drives me every day is the resilience Ben and all of the families in our community.

Despite the rarity of LCC/Labrune Syndrome, these families are incredibly dedicated to raising awareness, pushing for more research, and supporting each other. Seeing their hope and commitment has been a constant source of motivation for me. It’s not just about the science; it’s about the people behind the disease—their stories, their struggles, and their unwavering courage. I’m proud to be a part of a team that is making real strides toward understanding LCC/Labrune Syndrome, but I know we still have a long way to go. The development of the mice model was a huge milestone, but it’s just the beginning. My motivation comes from the possibility that our work can directly impact these families’ lives—whether it’s by discovering new treatment options, improving the quality of care, or simply offering hope where there wasn’t any before. As a mom/caregiver/advocate, my goal is to keep pushing the boundaries of what we know about this disease, but as a person, my mission is to make sure that no family feels alone in this fight. We’re in this together, and I’m committed to helping find answers and solutions for the LCC/Labrune Syndrome community.

By Ashley Dike - Executive Director