Singleton-Merten syndrome 2
MONDO:0014575Any singleton-Merten dysplasia in which the cause of the disease is a mutation in the DDX58 gene.
Also known as: DDX58 singleton-Merten dysplasia, singleton-Merten dysplasia caused by mutation in DDX58, singleton-Merten syndrome 2, singleton-Merten syndrome type 2, SGMRT2
13 clinical trials for this condition and its sub-types.
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NIH launches major study to unlock secrets of rare inflammatory diseases
Knowledge-focused CompletedThis study follows up to 5,000 people with autoinflammatory diseases (like NOMID, CANDLE, and juvenile dermatomyositis) and their healthy relatives. Researchers will collect medical history, blood samples, and imaging over 2-5 day visits to learn how these diseases work and find …
Sponsor: National Institute of Arthritis and Musculoskeletal and Skin Diseases (NIAMS) • Aim: Knowledge-focused
Last updated Aug 16, 2026 00:00 UTC
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Massive study reveals COVID-19 risks for autoimmune patients
Knowledge-focused CompletedThis study looked at over 13,000 people with chronic inflammatory rheumatism or autoimmune diseases who had or were suspected to have COVID-19. Researchers tracked how many developed severe COVID-19 requiring intensive care or leading to death. They also examined risk factors lik…
Sponsor: University Hospital, Lille • Aim: Knowledge-focused
Last updated Jun 27, 2026 12:37 UTC
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New blood tests could help monitor Flare-Ups in kids with arthritis
Knowledge-focused CompletedThis study measured two newer blood markers (calprotectin and serum amyloid protein) alongside standard tests in 20 children with juvenile arthritis and related conditions. The goal was to see if these markers could better track disease flare-ups in everyday clinic visits. The st…
Sponsor: Fundació Institut de Recerca de l'Hospital de la Santa Creu i Sant Pau • Aim: Knowledge-focused
Last updated Jun 27, 2026 08:12 UTC