Cerebral Adrenoleukodystrophy (CALD) Clinical Trials

Cerebral adrenoleukodystrophy is caused by mutations in the ABCD1 gene on the X chromosome, which encodes a peroxisomal membrane transporter essential for importing very-long-chain fatty acids (VLCFAs) into peroxisomes for beta-oxidation. When this transporter is defective, VLCFAs accumulate in tissues throughout the body, but the most devastating effects occur in the brain. In the cerebral form, VLCFA accumulation triggers a catastrophic inflammatory demyelination of cerebral white matter, typically beginning in the parietal-occipital region and spreading anteriorly.

The most common symptoms of Cerebral Adrenoleukodystrophy include Learning difficulties and declining school performance, Vision problems or progressive vision loss, Behavioral changes, irritability, and social withdrawal, Loss of coordination and balance, Decline in previously learned skills like writing and speaking, among others. Cerebral Adrenoleukodystrophy affects approximately 1 in 20,000 males worldwide; cerebral form develops in approximately 35-40% of boys with X-ALD. Symptoms can range from mild to severe and may vary between individuals.

Trial Friend lists all active clinical trials for Cerebral Adrenoleukodystrophy from ClinicalTrials.gov, with eligibility criteria translated into plain English. Patients can filter by trial phase and recruitment status, search by location, and use the Match Me tool to score trials against their profile. Early detection through newborn screening has fundamentally changed the treatment landscape for cerebral ALD. If your child has been identified through newborn screening or has a family history of ALD, regular MRI monitoring (typically every 6 months) is essential to detect the earliest signs of cerebral involvement.

Yes. As of September 2026, Trial Friend lists 1 FDA-approved drug used to treat Cerebral Adrenoleukodystrophy: Skysona (elivaldogene autotemcel), first approved in 2022.

Each has its own page with what the label covers, side effects and how it is given, and the Treatments section of this page adds any further approved drugs found in FDA labeling data.

Cerebral Adrenoleukodystrophy is caused by variants in the ABCD1 gene. All forms of X-ALD, including childhood cerebral ALD, are caused by ABCD1 variants; elevated plasma very long-chain fatty acids screen for it and newborn screening now detects many cases. Heterozygous females usually develop the milder adrenomyeloneuropathy form later in life.

It is X-linked, so it is usually more severe in males, and a carrier mother has a 1 in 2 chance of passing the variant to each child. The condition affects approximately 1 in 20,000 males worldwide; cerebral form develops in approximately 35-40% of boys with X-ALD. Genetic testing confirms the diagnosis.

Yes. Genetic testing for Cerebral Adrenoleukodystrophy looks at the ABCD1 gene. All forms of X-ALD, including childhood cerebral ALD, are caused by ABCD1 variants; elevated plasma very long-chain fatty acids screen for it and newborn screening now detects many cases. Heterozygous females usually develop the milder adrenomyeloneuropathy form later in life.

It is X-linked, so it is usually more severe in males, and a carrier mother has a 1 in 2 chance of passing the variant to each child.

A confirmed variant establishes the diagnosis and is often required to enroll in gene-specific trials. The labs currently offering the test are listed in the Genetic Testing section of this page, pulled live from the NIH Genetic Testing Registry. A genetic counselor can help interpret the result and decide which relatives should be tested.

Eligibility for Cerebral Adrenoleukodystrophy clinical trials depends on factors like age, diagnosis, treatment history, and overall health. Each trial sets its own inclusion and exclusion criteria. Trial Friend translates these requirements from medical language into plain English so patients can review them more easily. The Match Me tool can score your profile against active trials to help identify studies that may be a fit.

Participating in a Cerebral Adrenoleukodystrophy clinical trial typically involves scheduled visits, medical tests, and close monitoring by a research team. Depending on the study phase, you may receive an investigational treatment, a placebo, or the current standard of care. Trials may last from a few weeks to several years. Study participation is voluntary, and you can withdraw at any time.