New Treatment Gets to the Heart of CPT II

There's good news for people living with carnitine palmitoyltransferase (CPT) deficiency and their caregivers! Ultragenyx recently released data from an open-label study of the treatment triheptanoin. In the study, five infants…

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The Story of Dystonia and a Family Event

A mother of three in Scotland had experienced dystonia symptoms since childhood, and these symptoms got progressively worse over the years. Like so many with a rare condition it took…

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Rob’s Acromegaly Diagnosis

In the video above, PW Contributor Rob tells us about working to get an acromegay diagnosis. As he describes: "Acromegaly, unfortunately, a lot of times doesn’t get diagnosed until the…

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