Inherited metabolic disorders
X-linked cerebral adrenoleukodystrophy
Cerebral X-linked adrenoleukodystrophy is an ABCD1-related disorder in which inflammatory myelin damage can cause progressive neurologic loss. Not everyone with an ABCD1 variant develops cerebral disease.
Other names and abbreviations
cALD · CALD · X-CALD · cerebral ALD · adrenoleukodystrophy · ALD · Lorenzo’s oil disease · Cerebral X-linked adrenoleukodystrophy · Childhood cerebral adrenoleukodystrophy
Where transplant fits
Allogeneic transplantation can slow early active cerebral disease in suitable patients. In the US, Skysona uses the patient’s own gene-modified cells for a defined group without an available HLA-matched donor; its hematologic-malignancy risk is a major consideration.
Treatment depends on the exact diagnosis, disease stage, prior treatment and the person’s health. These categories are not estimates of donor demand.
Treatment at a glance
- Who it affects
- Cerebral disease often affects boys but can also begin later in life. The broader X-ALD spectrum includes conditions with different treatment needs.
- Other treatment options
- MRI surveillance helps identify cerebral disease at a treatable stage. Adrenal insufficiency requires separate endocrine treatment. Symptom-directed and rehabilitation care address existing deficits.
- Cells used for transplantation
- Allogeneic blood-forming stem cells for donor transplantation; the patient’s own gene-modified stem cells for eligible Skysona treatment.
Why the details matter
Transplantation and gene therapy are not general treatments for all ABCD1-related disease. They do not reliably reverse advanced cerebral injury or replace adrenal care, and Skysona requires long-term cancer surveillance.
Questions to bring to your care team
What is the exact diagnosis or subtype? What is the goal of each treatment option? If transplant is being considered, why does it fit this situation, which cells would be used and what are the alternatives?
Sources and further reading
- X-Linked Adrenoleukodystrophy
GeneReviews, University of Washington / NCBI Bookshelf · Accessed 2026-09-05 - SKYSONA: indication, prescribing information and safety updates
FDA · Accessed 2026-09-05 - Inborn Errors of Metabolism and Osteopetrosis
EBMT Handbook · 2024-04-11
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