Adrenoleukodystrophy and Adrenomyeloneuropathy

What are adrenoleukodystrophy (ALD) and adrenomyeloneuropathy (AMN)?

X-linked ALD occurs when myelin, the fatty protective substance that surrounds nerve cells, breaks down. It is the result of a mutation of a specific gene, ABCD1. Children with ALD often begin life healthy but can develop adrenal failure and brain inflammation over their lifetime. Early monitoring and treatment for ALD is essential, as many symptoms are treatable if caught early. California screens all children for ALD at birth, and many other states are instituting similar screening programs.

Cerebral adrenoleukodystrophy (CALD) is the most severe form of ALD. It only affects males. The earliest symptoms include problems with the adrenal glands and behavioral issues, and the disease usually progresses quickly to include vision and hearing loss, seizures, coordination problems, and difficulty swallowing. Boys with ALD usually receive regular MRIs, enabling doctors to identify the early stages of CALD and start treatment immediately.

Later in life as adults, children with the ALD gene mutation can develop AMN, which results in problems with walking and bowel and bladder function. Adult patients with AMN are seen and evaluated by doctors at Stanford Health Care.

How do we treat ALD and CALD at Stanford Medicine Children’s Health?

The Pediatric Neuro-Immunology Clinic’s Clinical Care and Research Program for ALD and AMN is a special program that offers clinical trials, often available through the Van Haren Lab, for the treatment of ALD and AMN. Our clinical team includes specialists in neurology, stem cell transplant, endocrinology, and genetics.

The Pediatric Stem Cell Transplantation program offers both stem cell transplantation and gene therapy for CALD. Stanford was one of the first centers to participate in studies testing the safety and efficacy of gene therapy for CALD. Gene therapy for CALD, which was approved by the U.S. Food and Drug Administration in 2022, is designed to replace the defective or missing ABCD1 gene, which controls the production of an enzyme that our body normally uses to break down fatty acids. Stanford is one of four hospitals in the United States to offer this innovative treatment.

The goal for treating CALD is to halt the progression of the disease as quickly and safely as possible, which is why it is important to start treatment early.