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Cockayne syndrome type 2

MONDO:0019570

Cockayne syndrome caused by mutation(s) in the ERCC6 gene, encoding DNA excision repair protein ERCC-6.

Also known as: Cockayne syndrome B, Cockayne syndrome type 2, Cockayne syndrome type B, Cockayne syndrome type II, Cockayne syndrome, type B, CSB

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

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Broader categories

Disease (680) Metabolic disease (233) Hereditary disease (176) Inborn errors of metabolism (45) Human disease (14) DNA repair disease (13) Developmental defect during embryogenesis (8) Cockayne syndrome (6) Premature aging syndrome (6) Autosomal recessive disease (4)
Trials to join now! 1 Not yet finished but already full! 1 Completed 1
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  • New drug combo targets Hard-to-Treat cancers in early trial

    Disease control Recruiting now

    This study tests a new drug called AZD4956, alone or with other cancer drugs, in people with advanced or spreading solid tumors that have a specific DNA repair defect (HRR deficiency). The main goals are to check safety, find the best dose, and see if the drug can shrink tumors. …

    Phase: PHASE1, PHASE2 • Sponsor: AstraZeneca • Aim: Disease control

    Last updated Aug 13, 2026 00:00 UTC

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