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ACD-related long telomere syndrome

MONDO:0100570

A telomere biology disorder typically characterized by increased telomere length due to a pathogenic variant in the ACD gene that may cause familial melanoma.

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

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Broader categories

Disease (618) Hereditary disease (172) Human disease (14) Telomere syndrome (9) Premature aging syndrome (6) Disease of genetic or genomic mechanism (2) ACD-related telomere biology disorder (0) 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

Experimental infusion aims to fix bone marrow failure in rare telomere disease

Disease control Ongoing

This early-stage trial tests a single infusion of EXG34217 in 12 people aged 12 and older who have bone marrow failure due to telomere biology disorders. The main goal is to check safety and tolerability, while also looking at changes in telomere length and blood cell counts. Bec…

Phase: PHASE1 • Sponsor: Elixirgen Therapeutics, Inc. • Aim: Disease control

Last updated Jun 27, 2026 09:02 UTC