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Singleton-Merten syndrome 1

MONDO:0024535

Any singleton-Merten dysplasia in which the cause of the disease is a mutation in the IFIH1 gene.

Also known as: IFIH1 singleton-Merten dysplasia, singleton-Merten dysplasia caused by mutation in IFIH1, SGMRT1, singleton-Merten syndrome 1

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

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Broader categories

Disease (680) Musculoskeletal system disorder (207) Hereditary disease (176) Rheumatic disorder (87) Connective tissue disorder (68) Bone disorder (51) Osteogenesis imperfecta (34) Syndromic disease (25) Autoinflammatory syndrome (21) Human disease (14)
Trials to join now! 8 Not yet recruiting 1 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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