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 bone marrow transplant trial offers hope for kids with severe blood disorders
Disease control Recruiting nowThis study tests a bone marrow transplant from a family donor for children under 21 with severe non-cancer blood disorders like sickle cell disease, bone marrow failure, or immune problems. The goal is to see if the transplant can replace the diseased cells with healthy donor cel…
Phase: PHASE1, PHASE2 • Sponsor: Washington University School of Medicine • Aim: Disease control
Last updated Jun 27, 2026 13:00 UTC
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New pill shows promise for rare childhood diseases
Disease control Recruiting nowThis phase 2 trial is testing the drug mirdametinib in 40 people aged 2 and older with Langerhans cell histiocytosis or similar disorders. The goal is to see if this oral medication works better and has fewer side effects than current treatments. Participants take the drug twice …
Phase: PHASE2 • Sponsor: Children's Hospital Medical Center, Cincinnati • Aim: Disease control
Last updated Jun 26, 2026 18:37 UTC
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AI learns to see inside your throat: new tool could catch disease early
Diagnosis Recruiting nowThis study is developing an artificial intelligence system that can recognize different parts of the throat and nasal passages and detect abnormal growths or lesions. Researchers will train the AI using thousands of endoscopy images and then test its accuracy against doctors with…
Sponsor: Ruijin Hospital • Aim: Diagnosis
Last updated Jun 27, 2026 08:10 UTC
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AI reads your skin: new tool aims to help doctors spot rashes and moles
Diagnosis Recruiting nowThis study is testing a software tool called Belle.ai that uses artificial intelligence to help doctors diagnose common skin diseases. About 400 patients at dermatology clinics will have three photos taken of their skin condition. The AI will analyze the photos and suggest possib…
Sponsor: Wake Forest University Health Sciences • Aim: Diagnosis
Last updated Jun 27, 2026 07:55 UTC
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New ultrasound technique could spot cancer in lymph nodes without a needle
Diagnosis Recruiting nowThis study tests a new type of ultrasound called super-resolution ultrasound (SRUS) to see if it can better tell the difference between benign (non-cancerous) and malignant (cancerous) swollen lymph nodes. About 779 adults with abnormal lymph nodes will receive an injection of ul…
Sponsor: Peking University Third Hospital • Aim: Diagnosis
Last updated Jun 26, 2026 13:47 UTC
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Music before surgery: a simple tune to calm nerves?
Symptom relief Recruiting nowThis study tests whether a 20-minute session of passive music therapy, delivered through an app just before entering the operating room, can lower anxiety and pain in adults undergoing ear, nose, or throat surgery. Five hundred participants will be randomly assigned to receive mu…
Phase: NA • Sponsor: Clinique Saint-Vincent • Aim: Symptom relief
Last updated Jun 27, 2026 11:02 UTC
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New program aims to reduce shame from chronic illness
Symptom relief Recruiting nowThis study tests a group counseling program called Healing HEARTS to help people with conditions like obesity, skin disease, cancer, HIV, diabetes, or chronic pain deal with internalized stigma. Participants will either join the counseling program or a peer support group. The goa…
Phase: NA • Sponsor: University of Florida • Aim: Symptom relief
Last updated Jun 27, 2026 09:02 UTC
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Massive study aims to unravel mysteries of blood clots and vessel disease
Knowledge-focused Recruiting nowThis study aims to learn more about how diseases related to blood clots, the immune system, and blood vessels start and change over time. Researchers will enroll up to 1,000 people aged 5 and older, including those with these conditions, their healthy relatives, and healthy volun…
Sponsor: National Heart, Lung, and Blood Institute (NHLBI) • Aim: Knowledge-focused
Last updated Jul 04, 2026 00:00 UTC
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New study aims to spot lung trouble before it starts in transplant patients
Knowledge-focused Recruiting nowThis study looks for better ways to detect lung inflammation and infections early in people who have received a stem cell transplant from a donor. About 40 participants aged 5 to 70 will get regular lung scans, breathing tests, blood draws, and a procedure where a tube collects f…
Sponsor: National Heart, Lung, and Blood Institute (NHLBI) • Aim: Knowledge-focused
Last updated Jun 27, 2026 14:01 UTC
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Scientists seek skin samples to unlock disease secrets
Knowledge-focused Recruiting nowThis study collects biological samples—like blood, skin biopsies, and swabs—from people with or at risk for skin diseases, as well as healthy volunteers. Researchers will use these samples to study the causes of skin conditions and explore potential treatments. Up to 700 particip…
Sponsor: National Institute of Arthritis and Musculoskeletal and Skin Diseases (NIAMS) • Aim: Knowledge-focused
Last updated Jun 27, 2026 13:00 UTC
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Can a simple breath test diagnose diseases in children?
Knowledge-focused Recruiting nowThis study aims to see if analyzing the chemicals in a child's breath can help diagnose and monitor diseases like asthma, neurological disorders, and type 1 diabetes. Researchers will collect breath samples from up to 3,600 children and teens to find patterns linked to these cond…
Sponsor: University Children's Hospital Basel • Aim: Knowledge-focused
Last updated Jun 27, 2026 12:30 UTC
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Can a simple questionnaire predict who will follow their treatment?
Knowledge-focused Recruiting nowThis study is testing a tool called B-COMPASS that uses a 22-question survey to predict whether people will follow their prescribed treatments. Researchers will enroll 3100 adults with cardiovascular, endocrine, immune, nerve, cancer, or rare diseases across Europe. The goal is t…
Phase: NA • Sponsor: Technical University of Madrid • Aim: Knowledge-focused
Last updated Jun 27, 2026 12:01 UTC
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Massive new registry aims to unlock secrets of biologic drugs
Knowledge-focused Recruiting nowThis study is creating a large registry of 800 people receiving biologic medications for immune conditions like autoimmune diseases and primary immune deficiencies. Researchers will collect blood samples and health data to better understand how these treatments work and who respo…
Sponsor: Icahn School of Medicine at Mount Sinai • Aim: Knowledge-focused
Last updated Jun 27, 2026 09:05 UTC
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Cancer Patients' skin woes under the microscope
Knowledge-focused Recruiting nowThis study looks at how skin conditions related to cancer or cancer treatments affect the well-being of cancer patients and survivors. About 1,025 participants will fill out questionnaires about their skin condition. The goal is to better understand these effects and improve trea…
Sponsor: Memorial Sloan Kettering Cancer Center • Aim: Knowledge-focused
Last updated Jun 27, 2026 08:05 UTC
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500 patients needed to unlock secrets of rare histiocytic disorders
Knowledge-focused Recruiting nowThis study at Mayo Clinic will collect medical histories and blood, fluid, or tissue samples from 500 people with histiocytic disorders. Researchers will analyze these samples for molecular markers like BRAF V600E and PD-L1 to better understand the diseases. The goal is to gather…
Sponsor: Mayo Clinic • Aim: Knowledge-focused
Last updated Jun 26, 2026 15:01 UTC