About Adrenoleukodystrophy
X-linked adrenoleukodystrophy (X-ALD) is caused by mutations in the ABCD1 gene encoding a peroxisomal membrane protein involved in very long-chain fatty acid (VLCFA) transport. Accumulation of VLCFAs, particularly in the adrenal glands and white matter of the brain and spinal cord, causes a spectrum of phenotypes from adrenocortical insufficiency to severe cerebral demyelination to progressive myeloneuropathy (AMN). Elivaldogene autotemcel (Skysona), a gene therapy, is approved for early cerebral ALD in boys.
Common Clinical Features
Clinical Trial Eligibility Tips
What to know before applying to Adrenoleukodystrophy trials.
MRI Loes score is the critical cerebral ALD severity marker — gene therapy (Skysona) is approved for Loes score 0.5-9
Plasma VLCFA levels are the diagnostic biomarker required for trial documentation
Distinguish cerebral ALD from adrenomyeloneuropathy (AMN) — trials are phenotype-specific
Adrenal function testing (ACTH stimulation test) is required — adrenal insufficiency affects eligibility and requires corticosteroid management during trials
Patient Resources
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