Download Alexander Disease: A guide For Patients and Families by Dr. Albee Messing here.
“I Can Do Things You Cannot, You Can Do Things I Cannot; Together We Can Do Great Things”. - Mother Teresa
Experts across multiple fields are working together to build a better understanding of Alexander Disease and develop treatments with the goal of improving the lives of Patients and their Families.
Current research is aimed at understanding the mechanisms by which the mutations cause disease, developing better animal models for the disorder, and exploring potential strategies for treatment.
At present, there is no exact animal model for the disease; however, mice have been engineered to produce the same mutant forms of GFAP found in individuals with Alexander disease.
These mice form Rosenthal fibers and have a predisposition for seizures, but do not yet mimic all features of human disease (such as the leukodystrophies). One clinical study is underway to identify biomarkers of disease severity or progression in samples of blood or cerebrospinal fluid. Such biomarkers, if found, would be a major advantage for evaluating the response to any treatments that are developed in the future.
Drug Development 101
Ionis Pharmaceuticals, Inc. develops treatments target-focused on RNA. Ionis previously developed a drug to successfully treat SMA, a neuro-muscular disorder, and they have developed a new drug, ION373, for AxD, that uses the same intrathecal delivery method.
European Medicines Agency (EMA) has granted orphan drug designation to ION373 for the treatment of people with Alexander Disease. This designation provides regulatory and financial incentives to develop therapies for life threatening or chronically debilitating conditions affecting not more than five in 10,000 people in the European Union (EU) and for which there is no satisfactory method of diagnosis, prevention or treatment. Upon approval, drugs that have been granted orphan designation by the EMA receive market exclusivity for 10 years in the EU.
Thanks to Scientists, Physicians, Patients and Patient Advocacy groups, ION373 is quickly moving toward Clinical Trial.
Scientific Conferences
United Leukodystrophy Foundation Conference 2024
SAVE THE DATE FOR 2024!
Friday and Saturday, June 28 and 29
Eaglewood Resort and Spa
Itasca, Illinois, USA
Children’s Hospital of Philadelphia
While scientists are busy in the lab, doctors like Amy Waldman are working with patients to define the clinical impact of Alexander Disease on their daily lives. "You can't determine if a new drug is working unless you know what to expect in a disorder," she says.
The Leukodystrophy Center at Children’s Hospital of Philadelphia created the Natural History Study in order to better understand the nuances of Alexander Disease and the variance of symptoms and progression among patients. CHOP 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 these studies will be used for the design of future clinical trials.
Study #1 (Outcome Metrics in Alexander Disease)
Requires a visit to the CHOP. Participants will undergo Physical Therapy, Occupational Therapy, Speech and Language, Observational Swallow and Neurocognitive evaluations, paid for by the study. This study also includes an optional Magnetic Resonance Imaging (MRI) and Lumbar Puncture (LP) component. These assessments typically take place over 2-3 days. To help offset travel costs, participants may be eligible for a travel stipend.
Study #2 (Natural History Questionnaire)
Does not require a visit to the CHOP. Participants/Caregivers will be asked to fill out a series of questionnaires and grant permission for the study team to access medical records that pertain to diagnosis and treatment.
To learn more, please submit a referral survey or contact the study coordinator, Geraldine Liu, at LiuG@email.chop.edu.
You may also visit the official ClinicalTrials.gov listing for more information about the study.
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.
Waisman Center: Alexander Disease
August 19, 2020
Alexander disease, a leukodystrophy, is a progressive and usually fatal neurological disorder in which the destruction of white matter in the brain is accompanied by the formation of abnormal deposits known as Rosenthal fibers. Rosenthal fibers are aggregations of protein that occur in astrocytes, which are cells that support the brain. These protein collections are ...
Rare Disease Database
August 19, 2020
SummaryAlexander disease is an extremely rare, usually progressive and fatal, neurological disorder. Initially it was detected most often during infancy or early childhood, but as better diagnostic tools have become available has been found to occur with similar frequency at all stages of life. Alexander disease has historically been included among the ...