Retinal dystrophy, optic nerve edema, splenomegaly, anhidrosis, and migraine headache syndrome
MONDO:0013999A rare presumably genetic disorder characterized by idiopathic massive splenomegaly with pancytopenia and childhood-onset chronic optic nerve edema with slowly progressive vision loss. Additional reported features include anhidrosis, urticaria and headaches.
Also known as: ROSAH, ROSAH syndrome, optic nerve edema-splenomegaly syndrome, retinal dystrophy, optic nerve edema, splenomegaly, anhidrosis, and headache, splenomegaly, cytopenia, and vision loss
3 clinical trials for this condition and its sub-types, 3 tagged with Retinal dystrophy, optic nerve edema, splenomegaly, anhidrosis, and migraine headache syndrome itself.
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New pill hopes to tame rare ROSAH syndrome
Disease control Recruiting nowThis early-stage trial tests an oral drug called DF-003 in 12 people with ROSAH syndrome, a rare genetic condition causing eye inflammation, enlarged spleen, and headaches. The main goal is to check safety and how the body processes the drug, while also watching for improvements …
Phase 1 • Sponsor: Shanghai Yao Yuan Biotechnology Ltd. (also known as Drug Farm) • Aim: Disease control
Last updated Jun 27, 2026 13:04 UTC
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Scientists seek genetic clues to mysterious fever diseases
Knowledge-focused Recruiting nowThis study aims to learn more about the genetics and natural history of autoinflammatory diseases, which cause repeated fevers and inflammation. Researchers will study up to 5,000 people, including patients, their relatives, and healthy volunteers. Participants provide blood and …
Sponsor: National Human Genome Research Institute (NHGRI) • Aim: Knowledge-focused
Last updated Sep 11, 2026 00:00 UTC