What is Alexander Disease?
Alexander Disease (AxD) is a very rare, usually fatal, neurological disorder that can cause a range of motor and cognitive difficulties including seizures; difficulty swallowing, feeding, and vomiting; and severely impaired balance and coordination. AxD is caused by the presence of abnormal forms of the protein “GFAP”, which leads to the formation of characteristic structures known as “Rosenthal fibers” in the central nervous system. While often detected in infancy and early childhood, recent improvements in diagnosis and classification have shown that AxD occurs with similar frequency across all ages.
The End AxD Mission
End AxD's Mission is to be a catalyst for research and development of a treatment, and eventual cure, of Alexander Disease, and to help those with this disease get the care they need.
Alexander Disease (AxD) is a very rare, usually fatal, neurological disorder that can cause a range of motor and cognitive difficulties including seizures; difficulty swallowing, feeding, and vomiting; and severely impaired balance and coordination. AxD is caused by the presence of abnormal forms of the protein “GFAP”, which leads to the formation of characteristic structures known as “Rosenthal fibers” in the central nervous system. While often detected in infancy and early childhood, recent improvements in diagnosis and classification have shown that AxD occurs with similar frequency across all ages.
Because Alexander Disease is very rare, critical resources are sparse and scattered across the patient population. Not only does this fragmentation complicate efforts of medical professionals, it also leaves families to endure the emotional devastation of an AxD "diagnostic odyssey." These families often understandably build personal support networks in an effort to provide the best possible chance to win the battle against this complex disease.
End AxD endeavors to bring these individual efforts under a single organizational umbrella. Doing so will facilitate more accurate diagnosis and effective care for sufferers of Alexander Disease. Furthermore, by assembling a centralized registry of AxD patients, we can provide more data for researchers, leading as quickly as possible to a cure.
Patient Stories
Meet the real experts on Alexander Disease: patients and their families.
Valentino
Alexander disease is not just a terrible disease; it's a social, financial, and emotional challenge. But our children teach us to deal with it day by day. They are divine beings who came to this life to teach us many lessons. They have a unique angel in their hearts. Valentino can turn the darkest moments into light with just his smile, with the unique love he offers us every day, with his quirks, his sweetness, his intelligence, and intuition. He makes us not give up. He may not understand the meaning of leukodystrophy, but he shows great strength to someday walk, to keep talking, to keep learning.
Isaiah
Today, at almost 5 years old, Isaiah continues to show progress in his motor development. He walks well, eats, and sleeps well and is learning to live without a diaper. He loves watching cartoons with his older brothers Joshua and Matthew. . Just like other 5-year-olds, Chuck E. Cheese is one of his favorite places!
Lilas
We had been waiting 11 years to become parents when we adopted Lilas and her twin brother Silas from an orphanage in Madagascar. They were just 20 months old. There was an obvious difference in the children’s development at first sight. Lilas was held in her nanny’s arms, looking like a 9-month-old baby. She could crawl and stand up holding on to something, while Silas was already walking and running. He had a strong appetite and was beginning to talk. Lilas struggled to eat and could only shout.
Research
United Leukodystrophy Foundation Conference '23 - AxD Session Links
September 8, 2023
Hey Alexander Disease Community! We're excited to share some highlights from the recent United Leukodystrophy Foundation conference, where the latest advancements in Alexander disease research and treatments were shared. Here's a recap of the sessions you won't want to miss:1️⃣ Alexander Disease Insights 🧬Learn about the most recent research breakthroughs and ...
Webinar Recording Available Now: AAV-medicated Gene Silencing (August 2023)
September 7, 2023
If you weren't able to join us on Sunday, August 6, 2023 for Dr. Gao’s update regarding “AAV-mediated Gene Silencing for the Treatment of Alexander Disease” the recorded version of the webinar is now available! Watch Recording Here
End AxD funds gene therapy research for Alexander disease
April 2, 2023
The foundation End AxD, a nonprofit dedicated to research, treatment and a cure for Alexander disease, has donated $74,000 to UMass Chan Medical School to explore a gene therapy treatment for the fatal neurological disease.
Children’s Hospital of Philadelphia
The Leukodystrophy Center at Children's Hospital of Philadelphia (CHOP) provides comprehensive clinical care, diagnostic testing and the most advanced treatments available to infants, children and adolescents living with these inherited white matter diseases. Here, your child has access to doctors and nurses who are experienced in caring for individuals with leukodystrophies, and who are actively involved in ongoing research to find new treatments.
The Leukodystrophy Center at Children’s Hospital of Philadelphia currently has two ongoing research studies exploring the natural history of Alexander disease (AxD). Individuals of any age diagnosed with Alexander disease are eligible to participate. The data obtained from both of these studies will be used for the design of future clinical trials.
