Also known as Lorenzo’s Oil disease, adrenoleukodystrophy is estimated to affect one in every 20,000 male births worldwide. The childhood cerebral form of adrenoleukodystrophy (CCALD) is a fatal and rare genetic disorder that affects the nervous system of young boys. CCALD involves a breakdown of the protective sheath of the nerve cells in the brain that are responsible for thinking and muscle control. Symptoms usually occur in early childhood and progress rapidly if untreated, and can cause a vegetative state, ultimately leading to death. Symptoms typically appear during the ages of 3 to 15. Children with this form of adrenoleukodystrophy develop normally until the onset of symptoms.
Currently, the only treatment option known to halt progression of the disease is allogeneic hematopoietic stem cell transplant (HSCT) or bone marrow transplant, a process in which a donor’s stem cells with a functioning copy of the gene are infused into the patient. HSCT ideally is performed early in the course of the disease and uses cells from an unaffected matched sibling donor. Unfortunately, sibling-matched donors are typically available for less than 25 percent of patients. In practice, non-sibling matched donor cells and umbilical cord blood cells are more frequently used. However, allogeneic HSCT is associated with serious side effects and potentially death related to infection, graft failure and acute and chronic graft-versus-host-disease.
To learn more about HSCT or bone marrow transplant, visit the National Bone Marrow Donor Program’s Be the Match website.
learn more about how stem cell transplant works
The following organizations offer resources and information for CCALD patients, their families and their caregivers: