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Cerebroretinal microangiopathy with calcifications and cysts 1

MONDO:0024564

Any Coats plus syndrome in which the cause of the disease is a mutation in the CTC1 gene.

Also known as: cerebroretinal microangiopathy with calcifications and cysts, CTC1 Coats plus syndrome, Coats plus syndrome caused by mutation in CTC1, cerebroretinal microangiopathy with calcifications and cysts 1, CRMCC1, Coats plus syndrome, Crmcc

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

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Broader categories

Disease (680) Nervous system disorder (231) Hereditary disease (176) Eye disorder (102) Retinal disorder (85) Human disease (14) Telomere syndrome (9) Hereditary neurological disease (6) Premature aging syndrome (6) Disorder of orbital region (3)
Trials to join now! 6 Not yet recruiting 1 Not yet finished but already full! 1 Completed 6 Terminated 1
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  • 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

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