Childhood cerebral adrenoleukodystrophy (CALD) is a type of adrenoleukodystrophy (ALD). It is a serious neurological disorder caused by mutations in the ABCD1 gene. Mutations in this gene cause defects in how cells metabolize very long-chain fatty acids (VLCFAs), causing them to build up in the central nervous system and the blood. This buildup is responsible for the breakdown of the protein coat, which insulates the nerve fibers to protect them. Without this protein coat, the nerve cells are fragile and easily damaged.
CALD mostly affects boys because the disease-causing mutation is located on the X chromosome. Because girls have a second copy of the X chromosome, this can compensate for the mutation. The earliest symptoms of CALD develop in boys ages 4-10. Children generally show learning and behavioral problems. They may have difficulty learning to read and write. As the disease progresses, aggressive behavior, vision problems, difficulty swallowing, poor coordination, and impaired adrenal gland function may occur. After the first symptoms appear, the disease rapidly progresses to disability.
There are several methods of diagnosing and monitoring the development of CALD.
These tests check for high levels of VLCFAs in the blood. Blood samples may also be used to perform genetic tests for the disease-causing mutations, as well as to assess whether the adrenal glands are producing hormones normally.
Magnetic resonance imaging (MRI)
MRI is an imaging scan that allows doctors to create an image of the brain. Lesions or scarring caused by CALD can be observed as the disease develops.
For patients with few other symptoms, eye exams may show signs of nerve damage as the disease progresses.
A skin biopsy involves taking a small sample of skin to check for increased levels of VLCFAs. This may be performed in some cases to diagnose CALD.
There are very few treatments available for CALD.
Lorenzo’s oil is a treatment that has not been fully tested but may help some patients.
Stem cell therapy is the current standard of care for those in the early stages of the disease. Although it cannot repair the damage already done, it can in some cases prevent further damage. It is therefore important to start treatment as early as possible. Not all patients can receive stem cell transplants.
There are also a number of experimental treatments under development.
Gene therapy is a modification of stem cell therapy, which allows transplantation of the patient’s own cells following a genetic correction of the disease-causing mutation. Lenti-D is such a treatment being developed by Bluebird Bio.
MIN-102 is an anti-inflammatory that may be able to slow the degradation of the protective protein coat around nerve fibers and slow disease progression.
OP-101 is a therapy designed to reduce both inflammation and oxidative stress to slow or prevent disease progression.
Without treatment, CALD progresses swiftly and is generally fatal within a few years of diagnosis. Stem cell transplants can halt the progression of CALD in some patients.
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