German syndrome
MONDO:0009272German syndrome is an autosomal recessive arthrogryposis syndrome, described in 5 cases. Three of the four known families with affected children were Ashkenazi Jews. German syndrome is characterized by arthrogryposis, hypotonia-hypokinesia sequence, and lymphedema. Patients present distinct craniofacial appearance (tall forehead and ''carp''-shaped mouth, cleft palate), contractures, severe hypotonia manifesting as motor delay, and swallowing difficulties. The disease has a severe morbidity and mortality rate and survivors present a small stature, hypotonia, frequent upper respiratory infections, and psychomotor delay. There have been no further descriptions in the literature since 1987.
Also known as: German syndrome
13 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 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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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 03, 2026 23:00 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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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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Scientists map DNA 'Signatures' in rare fetal diseases
Knowledge-focused Recruiting nowThis study looks at DNA methylation patterns (chemical tags on DNA) in fetuses with rare genetic diseases. Researchers will analyze DNA from amniotic fluid and tissue samples to create reference signatures. The goal is to improve diagnosis of these conditions before birth. The st…
Sponsor: Assistance Publique - Hôpitaux de Paris • Aim: Knowledge-focused
Last updated Jun 27, 2026 12:01 UTC
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German hospital emergency plans under the microscope: what works and what Doesn't?
Knowledge-focused Recruiting nowThis study looks at the emergency and disaster plans of about 319 German hospitals to see how well they are prepared for crises. Researchers will compare the plans to find common strengths, weaknesses, and best practices. The goal is to help hospitals improve their emergency plan…
Sponsor: Lea Kölsch • Aim: Knowledge-focused
Last updated Jun 27, 2026 11:00 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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Gene tests for sick newborns: a lifesaver in the NICU?
Knowledge-focused Recruiting nowThis study is testing whether using rapid genetic sequencing can help doctors diagnose and treat birth defects in newborns in intensive care. Researchers will enroll 2,000 babies and compare death rates, disability rates, and genetic findings. The goal is to see if personalized t…
Sponsor: Children's Hospital of Fudan University • Aim: Knowledge-focused
Last updated Jun 26, 2026 13:36 UTC