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ADAR-related type 1 interferonopathy

MONDO:0700261

Any type 1 interferonopathies in which the cause of the disease is a variation in the ADAR gene. Individuals with variants in ADAR can present with a variety of phenotypes, including Aicardi-Goutieres syndrome and dyschromatosis symmetrica hereditaria.

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

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Sub-types

Dyschromatosis symmetrica hereditaria (1) Aicardi-Goutieres syndrome 6 (0)

Broader categories

Disease (680) Hereditary disease (176) Rheumatic disorder (87) Connective tissue disorder (68) Syndromic disease (25) Autoinflammatory syndrome (21) Human disease (14) Type 1 interferonopathy (4) Disease of genetic or genomic mechanism (2) Disease by body system or component (0)
Trials to join now! 8 Not yet recruiting 2 Not yet finished but already full! 1 Completed 3
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  • New pill aims to tame rare immune diseases

    Disease control Ongoing

    This early-stage trial tests an experimental drug called BI 3000202 in 16 adults with rare type 1 interferonopathies, such as Aicardi-Goutières syndrome. Participants take a low dose for 4 weeks, then a higher dose for 36 weeks. The main goal is to see if the drug is safe and how…

    Phase: PHASE1 • Sponsor: Boehringer Ingelheim • Aim: Disease control

    Last updated Jul 09, 2026 00:00 UTC

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