Xanthomatosis
MONDO:0002615A condition marked by the development of widespread xanthomas, yellow tumor-like structures filled with lipid deposits. Xanthomas can be found in a variety of tissues including the skin; tendons; joints of knees and elbows. Xanthomatosis is associated with disturbance of lipid metabolism and formation of foam cells.
Also known as: xanthomatosis, xanthomatosis (disease)
8 clinical trials for this condition and its sub-types.
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Broader categories
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New york program offers extra screening for 100,000 newborns
Diagnosis ENROLLING_BY_INVITATIONScreenPlus is a large pilot program that offers families the option to have their newborn screened for a panel of rare genetic disorders, in addition to standard newborn screening. The study aims to screen 100,000 infants born at eight hospitals in New York. Researchers will eval…
Sponsor: Albert Einstein College of Medicine • Aim: Diagnosis
Last updated Jul 30, 2026 00:00 UTC
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Newborn screening study aims to catch rare diseases at birth
Diagnosis OngoingThis study offers voluntary screening for newborns in North Carolina to detect a wide range of rare health conditions early. Using a small blood sample already collected at birth, the program tests for dozens of disorders, including spinal muscular atrophy, cystic fibrosis, and m…
Sponsor: RTI International • Aim: Diagnosis
Last updated Jul 03, 2026 00:00 UTC