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ALD is a genetic condition caused by pathogenic variants in the ABCD1 gene, which lead to a buildup of a substance called very long chain fatty acids (VLCFAs) in tissues throughout the body, including in the brain. This buildup damages the protective layer of the nerve cells of the brain, impacting brain function and leading to progressive neurological symptoms, which may include vision problems, deafness, difficulty swallowing, seizures, muscle weakness, and dementia. Most patients with ALD also have adrenal insufficiency, meaning their adrenal glands do not produce enough cortisol and aldosterone (hormones that help the body respond to stress and regulate blood pressure and water and salt balance). Patients with ALD range widely in the severity and age of onset of symptoms. The most severe form of ALD onsets in childhood with progressive neurological dysfunction and is fatal without intervention. Adrenomyeloneuropathy (AMN) is the name of the adult-onset form of the condition, which is milder and progresses more slowly.
The ABCD1 gene is on the X-chromosome. Females have two X chromosomes and males have one. Males are usually more severely impacted by ALD because, unlike females, they do not have a second working copy of the ABCD1 gene. While females are considered carriers of ALD, many develop AMN-like symptoms in adulthood. In addition to hormone replacement and supportive care, some ALD patients undergo stem cell transplantation. Gene therapy is also under investigation as a treatment for ALD.
The latest on our research
We are jumpstarting our ALD program to accelerate research on the disorder to ultimately improve treatment options. We welcome all patients and caregivers interested in participating and spreading the word to the ALD community.