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Pseudo-TORCH syndrome 2

MONDO:0018828

Also known as: pseudo-TORCH syndrome 2, PTORCH2, USP18 deficiency

12 clinical trials for this condition and its sub-types, 0 tagged with Pseudo-TORCH syndrome 2 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 of childhood (19) ↑ Pseudo-TORCH syndrome (0)

Including sub-types (12) Tagged with Pseudo-TORCH syndrome 2 (0)

Trials to join now! 8 Not yet recruiting 1 Not yet finished but already full! 1 Completed 2

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