Observational studyJournal of neurology, neurosurgery, and psychiatry2026
Adrenoleukodystrophy in adults: phenotypic characterisation and natural history in a large cohort.
Observational study in Journal of neurology, neurosurgery, and psychiatry, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. It is linked to trial NCT04880356 (Clinical, Instrumental and Laboratory Data Collection of Subjects with Ultra-rare Inherited Metabolic and Degenerative Neurological Diseases), which is not on this map. Not yet cited in PubMed.
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The trial behind it
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Clinical, Instrumental and Laboratory Data Collection of Subjects with Ultra-rare Inherited Metabolic and Degenerative Neurological Diseases
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13 authors.
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Abstract
backgroundAdult adrenoleukodystrophy is a rare X linked disorder with heterogeneous phenotypes, complicating prognosis and trial design. We characterised phenotype and natural history in a large single-centre nationwide cohort and contextualised findings with prior reports.
methodsWe performed a combined retrospective-prospective observational study of adults (≥18 years) with confirmed
resultsThe cohort comprised 140 patients (64 males, 76 females) from 58 families, carrying 50
conclusionsAdult adrenoleukodystrophy comprises distinct phenotypes with variable prognosis. Recognition of ALMN as an intermediate form and the low cerebral progression rate in Italian AMN refine disease classification. Sex-related VLCFA differences may influence severity, although standard assays lack sensitivity. Neurophysiological testing, particularly BAEPs, can support differential diagnosis in patients with hereditary spastic paraplegias. TRIAL REGISTRATION NUMBER: NCT04880356.
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