Aplasia cutis congenita-intestinal lymphangiectasia syndrome
MONDO:0008808Aplasia cutis congenita - intestinal lymphangiectasia is an extremely rare association syndrome, described in only two brothers to date (one of which died at 2 months of age), characterized by aplasia cutis congenita of the vertex and generalized edema (as well as hypoproteinemia and lymphopenia) due to intestinal lymphangiectasia. There have been no further descriptions in the literature since 1985.
Also known as: Bronspiegel-Zelnick syndrome, autosomal recessive aplasia cutis, ACC with intestinal lymphangiectasia, aplasia cutis congenita intestinal lymphangiectasia, aplasia cutis congenita with intestinal lymphangiectasia
20 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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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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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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NIH launches massive GI data bank to fuel future discoveries
Knowledge-focused Recruiting nowThis study aims to collect medical data and biological samples (blood, urine, stool, and tissue) from up to 4,000 adults with known or suspected gastrointestinal diseases. Participants receive standard medical care at the NIH, and any extra samples or leftover tissue from procedu…
Sponsor: National Institute of Diabetes and Digestive and Kidney Diseases (NIDDK) • Aim: Knowledge-focused
Last updated Jun 27, 2026 14:00 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 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