One difficult thing about a rare disease is that there are so many unknowns, and it’s not always obvious where the answers can be found.
Cholestasis
CHOLESTASIS
NewsNew NR1H4 mutation identified in baby girl with PFIC5
A new mutation in the NR1H4 gene was identified as the cause of progressive familial intrahepatic cholestasis type 5 (PFIC5) in a baby girl…
CHOLESTASIS
NewsNonprofit funds research to test for pregnancy complication ICP
A nonprofit group has donated $60,000 to support researchers at Yale University School of Medicine working to expand access to a new test that can…
CHOLESTASIS
NewsBrain changes seen in children with neonatal cholestasis: Study
Brain scans have shown children with neonatal cholestasis tend to have brain abnormalities, a review study found. Bleeding was the most common, especially in…
The Phase 3 trial that supported the U.S. approval of Livmarli (maralixibat) for progressive familial intrahepatic cholestasis (PFIC) involved the broadest range of patients,…
Having gestational diabetes increases the risk of adverse outcomes in pregnancy for women with intrahepatic cholestasis of pregnancy (ICP), the most common pregnancy-related liver…
CHOLESTASIS
NewsFDA approves Mirum’s Livmarli for PFIC patients ages 5 and older
The U.S. Food and Drug Administration (FDA) has approved Mirum Pharmaceuticals’ Livmarli (maralixibat) to reduce pruritus, or itching, in adults and children, 5 years…
CHOLESTASIS
NewsSodium 4-phenylbutyrate delayed transplant need in 2 PFIC2 children
Treatment with an oral medication called sodium 4-phenylbutyrate — approved to treat diseases in which the body fails to remove a waste called ammonia…
CHOLESTASIS
NewsProbiotics may help women with ICP, but risks not yet known
Women with intrahepatic cholestasis of pregnancy (ICP) show lesser diversity across their gut bacteria than do other pregnant women, a study reports. Its findings…
Bortezomib, an anticancer medication, prevented a recurrence of progressive familial intrahepatic cholestasis type 2 (PFIC2) after a liver transplant by helping a young girl…
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