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Watson syndrome
MONDO:0008672Watson syndrome is believed to be a variant of neurofibromatosis type 1. The symptoms of this condition are pulmonary valvular stenosis, cafe-au-lait spots and short stature. IQTest scores for individuals with Watson syndromecan rangebetween 60-100.Many people with this condition also have a larger than average head size (macrocephaly) and Lisch nodules. While mutations in the NF1 gene have been found in families with Watson syndrome, the exactcause of this condition is unknown. The conditionis inherited in an autosomal dominant pattern. Treatment aims at managing the specific symptoms of an individual.
Also known as: Watson syndrome, WTSN, cafe-Au-lait Spots with pulmonic stenosis, pulmonic stenosis with cafe-Au-lait Spots
44 clinical trials for this condition and its sub-types.
Follow this condition — get notified about new trialsBroader categories
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Can a pill shield ears from chemo damage?
Prevention CompletedThis study tests whether the drug SENS-401 can prevent hearing loss caused by cisplatin, a common chemotherapy. Adults with cancer who are scheduled to receive cisplatin take SENS-401 before, during, and after treatment. Hearing is measured with a standard test to see if the drug…
Phase: PHASE2 • Sponsor: Sensorion • Aim: Prevention
Last updated Jul 04, 2026 00:00 UTC
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Can a registry help more families get tested for cancer genes?
Knowledge-focused CompletedThis study looked at 545 people with hereditary cancer syndromes and their relatives. It compared the usual method of asking patients to share testing information with family members to a new method where a registry also sends reminders. The goal was to see if the registry-aided …
Phase: NA • Sponsor: National Cancer Centre, Singapore • Aim: Knowledge-focused
Last updated Jun 27, 2026 13:03 UTC
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Digital tool helps families navigate Kids' cancer risk
Knowledge-focused CompletedThis study tested whether digital care plans and text message reminders help families of children with cancer predisposition syndromes better understand their child's condition. Researchers enrolled 177 parents and measured changes in knowledge and how acceptable the digital tool…
Phase: NA • Sponsor: Children's Hospital of Philadelphia • Aim: Knowledge-focused
Last updated Jun 27, 2026 12:37 UTC
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Gene sequencing uncovers mysterious fetal malformations
Knowledge-focused CompletedThis study tested whether a powerful DNA test called high-throughput exome sequencing can find genetic causes of multiple birth defects in fetuses when standard exams fail. Researchers studied 100 fetuses with at least two malformations and no prior diagnosis. They compared the n…
Sponsor: Centre Hospitalier Universitaire Dijon • Aim: Knowledge-focused
Last updated Jun 27, 2026 09:03 UTC
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Speedy gene test aims to give answers on birth defects in just 7 days
Knowledge-focused CompletedThis study tested whether a fast type of genetic test called rapid genome sequencing can find the cause of birth defects seen on ultrasound more quickly than current methods. Researchers included 184 pregnancies with certain ultrasound findings. The goal was to see if results cou…
Sponsor: Centre Hospitalier Universitaire Dijon • Aim: Knowledge-focused
Last updated Jun 27, 2026 09:00 UTC
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Immunotherapy side effects under the microscope: new study monitors autoantibodies
Knowledge-focused CompletedThis completed study followed 183 cancer patients starting checkpoint inhibitor therapy to see how often they develop autoantibodies—proteins that can mistakenly attack the body's own tissues. Researchers collected blood samples to track changes in several types of autoantibodies…
Sponsor: CHU de Reims • Aim: Knowledge-focused
Last updated Jun 27, 2026 08:01 UTC
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Mailed DNA tests could help families catch cancer early
Knowledge-focused CompletedThis study looked at whether mailing at-home genetic testing kits to relatives of people with hereditary cancer gene variants could increase the number of relatives who get tested. Researchers compared this approach to usual care in 108 participants. The goal was to see if making…
Phase: NA • Sponsor: University of Texas Southwestern Medical Center • Aim: Knowledge-focused
Last updated Jun 26, 2026 13:30 UTC