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Isolated adrenal insufficiency

MONDO:0100315

An ABCD1 deficiency that presents with primary adrenocortical insufficiency between age two years and adulthood and most commonly by age 7.5 years, without evidence of neurologic abnormality; however, some degree of neurologic disability (most commonly adrenomyeloneuropathy (AMN)) usually develops by middle age.

Also known as: isolated adrenal insufficiency

3 clinical trials for this condition and its sub-types.

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Broader categories

Dementia (698) Disease (680) Psychiatric disorder (435) Cognitive disorder (433) Metabolic disease (233) Nervous system disorder (231) Hereditary disease (176) Neurodegenerative disease (171) Central nervous system disorder (107) Endocrine system disorder (72)
Trials to join now! 1 Not yet recruiting 1 Completed 1
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  • New diagnostic strategy aims to end diagnostic odyssey for rare diseases

    Diagnosis Completed

    This study tested a new approach to diagnose peroxisomal disorders, a group of rare genetic diseases. The strategy uses advanced metabolic and genetic tests to find the cause faster in people with suspicious symptoms or lab results. Researchers included 8 participants from four h…

    Sponsor: University Hospital, Lille • Aim: Diagnosis

    Last updated Jun 27, 2026 08:02 UTC

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