RecruitingPhase 1NCT02254863
Metabolic
Adrenoleukodystrophy
Also known as ALD, X-ALD, X-linked adrenoleukodystrophy, ABCD1 deficiency
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
ORPHA:43 ↗Gene ABCD1Prevalence 1-5 per 100,000 (Orphanet)Onset Childhood, Adolescent, AdultX-linked genetic
13
studies recruiting now
as of 7 Sept 2026
74
studies registered in total
as of 7 Sept 2026
2
countries with a recruiting site
as of 7 Sept 2026
19 Dec 2020
most recent study posted
among recruiting studies
Recruiting trials
RecruitingNCT04675749
Quality of Life in Women With X-linked Adrenoleukodystrophy
RecruitingNCT03789721
Adrenoleukodystrophy National Registry Study
RecruitingNCT04528355
Data Collection Study of Patients With Non-Malignant Disorders Undergoing UCBT, BMT or PBSCT With RIC
RecruitingPhase 2NCT01962415
Reduced Intensity Conditioning for Non-Malignant Disorders Undergoing UCBT, BMT or PBSCT
Showing the 5 most recently updated recruiting studies, as recorded 7 Sept 2026. Live status on each study page.
See all 13 recruiting studiesWhere recruiting studies are running
Countries with at least one recruiting site among the studies above, 7 Sept 2026. Tap a country to search trials there.
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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
Adrenal insufficiencyProgressive cerebral demyelinationBehavioral and cognitive changesSpastic paraparesisVisual and hearing lossPeripheral neuropathySeizures
From Orphanet’s phenotype annotations (CC BY 4.0). Not a complete list.
Treatments being studied
1 approved treatment and 3 in clinical development, from Open Targets (CC BY 4.0). Not medical advice.
Approved: Elivaldogene Autotemcel (Skysona)
Phase 2Pioglitazone
Phase 1/2Sobetirome
Phase 1Vk-0214
Before you apply
Things trial teams commonly ask about for Adrenoleukodystrophy. Not eligibility rules; those are set by each study.
- 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
Related conditions
Information, not medical advice. Trial listings are shown as recorded on ClinicalTrials.gov; whether any study is right for you is a decision for you and your clinicians, and eligibility is decided by each research team. Disease information from Orphanet (CC BY 4.0).