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ACD-related telomere biology disorder

MONDO:0800469

A complex set of inherited conditions caused by a pathogenic variant(s) in the ACD gene that results in aberrant telomere biology.

Also known as: ACD-related telomeropathy

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

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Sub-types

ACD-related long telomere syndrome (0) ACD-related short telomere syndrome (0) Dyskeratosis congenita, autosomal dominant 6 (0) Dyskeratosis congenita, autosomal recessive 7 (0)

Broader categories

Disease (618) Hereditary disease (172) Human disease (14) Telomere syndrome (9) Premature aging syndrome (6) Disease of genetic or genomic mechanism (2) Disease by developmental or physiological process (0) Disease by etiologic mechanism (0)
Trials to join now! 1 Not yet finished but already full! 1 Completed 1
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  • Hormone drug may slow Aging-Related diseases in rare condition

    Disease control Completed

    This study tested whether low doses of the hormone drug danazol can slow the shortening of telomeres—the protective caps on DNA—in people with telomere diseases. These conditions can cause bone marrow failure, lung scarring, and liver damage. Eighteen participants took danazol fo…

    Phase: PHASE2 • Sponsor: National Heart, Lung, and Blood Institute (NHLBI) • Aim: Disease control

    Last updated Jun 27, 2026 14:02 UTC

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