H syndrome
MONDO:0011273A systemic inherited histiocytosis, with characteristic cutaneous findings accompanying systemic manifestations. H syndrome refers to the major clinical findings of hyperpigmentation, hypertrichosis, hepatosplenomegaly, heart anomalies, hearing loss, hypogonadism, low height, and occasionally, hyperglycemia/diabetes mellitus. Due to overlapping clinical features, H syndrome is now considered to include pigmented hypertrichosis with insulin dependent diabetes mellitus syndrome (PHID), Faisalabad histiocytosis (FHC) and familial sinus histiocytosis with massive lymphadenopathy (FSHML).
Also known as: Asrar Facharzt Haque syndrome, H syndrome, Faisalabad histiocytosis, HJCD, Rosai-Dorfman disease, familial, SLC29A3 spectrum disorder, histiocytosis and lymphadenopathy with or without cutaneous, Cardiac, and/or endocrine features, Joint contractures, and/or deafness, histiocytosis with Joint contractures and sensorineural deafness
31 clinical trials for this condition and its sub-types.
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New hope for kids with rare cancers: targeted drug selpercatinib tested in phase 2 trial
Disease control OngoingThis phase 2 trial tests the drug selpercatinib in children and young adults (ages 1 to 21) with advanced cancers that have a specific genetic change called a RET alteration. The goal is to see if the drug can shrink tumors or stop them from growing. Only one participant has been…
Phase: PHASE2 • Sponsor: National Cancer Institute (NCI) • Aim: Disease control
Last updated Jun 27, 2026 14:00 UTC
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New hope for kids with rare cancers: targeted drug larotrectinib tested in small trial
Disease control OngoingThis phase 2 trial is testing the drug larotrectinib in children and young adults (ages 1 to 21) with advanced solid tumors, non-Hodgkin lymphoma, or histiocytic disorders that have a specific genetic change called an NTRK fusion. The cancers have either come back after treatment…
Phase: PHASE2 • Sponsor: National Cancer Institute (NCI) • Aim: Disease control
Last updated Jun 27, 2026 14:00 UTC
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Rare disease study probes hidden brain effects
Knowledge-focused OngoingThis study looks at how histiocytosis—a group of rare disorders—may affect memory, thinking, and brain structure. Researchers will test 13 adults with these conditions using thinking tasks and MRI scans. The goal is to better understand brain changes, not to provide treatment.…
Sponsor: Memorial Sloan Kettering Cancer Center • Aim: Knowledge-focused
Last updated Jun 27, 2026 12:31 UTC
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AI vs. skin doctors: who diagnoses better?
Knowledge-focused ENROLLING_BY_INVITATIONThis study looks at whether artificial intelligence (AI) can match a dermatologist's diagnosis when a general practitioner sends in photos and questions about a patient's skin condition. Researchers will compare the AI's diagnosis to the dermatologist's for about 1000 adults. The…
Sponsor: Centre Hospitalier Universitaire de Nice • Aim: Knowledge-focused
Last updated Jun 27, 2026 08:11 UTC
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New breath test could replace painful lung scopes
Knowledge-focused ENROLLING_BY_INVITATIONThis study aims to see if a simple, non-invasive breathing test can accurately measure the acidity (pH) in the airways, which is often abnormal in lung diseases. Researchers will compare results from this breath test with standard methods in 150 healthy volunteers and people with…
Phase: PHASE2 • Sponsor: Indiana University • Aim: Knowledge-focused
Last updated Jun 27, 2026 08:03 UTC