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TREX1-related type 1 interferonopathy

MONDO:0700256

Any type 1 interferonopathies in which the cause of the disease is a variation in the TREX1 gene. Individuals with variants in TREX1 can present with a variety of phenotypes, including Aicardi-Goutieres syndrome, chilblain lupus, or retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations.

17 clinical trials for this condition and its sub-types, 0 tagged with TREX1-related type 1 interferonopathy itself.

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Where it sits in the disease tree

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Part of

↑ Hereditary disorder of connective tissue (1311) ↑ Type 1 interferonopathy (21)

Sub-types of TREX1-related type 1 interferonopathy

Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations 3 trials
Aicardi-Goutieres syndrome 1 2 trials
1 sub-type
- TREX1-related autosomal dominant Aicardi-Goutieres syndrome 0 trials
Chilblain lupus 1 0 trials

Including sub-types (17) Tagged with TREX1-related type 1 interferonopathy (0)

Trials to join now! 9 Not yet recruiting 2 Not yet finished but already full! 1 Completed 5

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 1 • Sponsor: Boehringer Ingelheim • Aim: Disease control

Last updated Sep 17, 2026 00:00 UTC

TREX1-related type 1 interferonopathy

Where it sits in the disease tree

New pill aims to tame rare immune diseases