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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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  • Could a simple sugar pill fix faulty telomeres? early trial launches

    Disease control Recruiting now

    This early-stage trial is testing whether a combination of two natural substances, deoxycytidine and deoxythymidine, is safe for people with telomere biology disorders. These rare genetic conditions cause premature aging, bone marrow failure, and lung scarring. Up to 36 participa…

    Phase: PHASE1 • Sponsor: Suneet Agarwal • Aim: Disease control

    Last updated Jun 27, 2026 11:02 UTC

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