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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.

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Sub-types

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

Broader categories

Disease (717) Hereditary disease (188) Rheumatic disorder (89) Connective tissue disorder (68) Syndromic disease (25) Autoinflammatory syndrome (21) Human disease (15) Type 1 interferonopathy (4) Disease of genetic or genomic mechanism (2) Disease by body system or component (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 Jul 09, 2026 00:00 UTC

TREX1-related type 1 interferonopathy

Sub-types

Broader categories

New pill aims to tame rare immune diseases