New Treatment Gets to the Heart of CPT II

There’s good news for people living with carnitine palmitoyltransferase (CPT) deficiency and their caregivers!

black first race american dancer
Yay! Yay! Yay! [Source: Giphy.com]
Ultragenyx recently released data from an open-label study of the treatment triheptanoin.

In the study, five infants with long-chain fatty acid oxidation disorders (of which CPT is one) who were experiencing cardiomyopathy (heart disease) and had previously been treated with triglyceride oil were switched to triheptanoin. All five of the patients showed improvement in cardiac function.

Improvements were demonstrated as early as two days in some cases, or as late as three weeks in others. It should be noted, however, that some side effects were reported–most notably involving gastrointestinal (GI) issues. After 14 weeks of treatment with triheptanoin, one infant had to discontinue use because of those GI side effects.

While Ultragenyx previously had “orphan drug” status for triheptanoin in the U.S., the European Commission only recently granted the treatment similar status. Hopefully these results will lead to more treatment options for those living with CPT.

UX007 MOA for LC-FAOD
According to the Ultragenyx website, triheptanoin in their formulation, UX007, may “bypass the genetic block in long-chain fatty acid metabolism” and “support the production of glucose.” [Source: http://www.ultragenyx.com/pipeline/triheptanoin-faod/ ]
Carnitine palmitoyltransferase deficiency I & II are genetic disorders that affect the ability of cells to break down fats and convert them to energy. Carnitine palmitoyltransferase is an enzyme produced in the liver and is an essential part of the body’s ability to metabolize fats. Fatty acid oxidation, the actual process involved when fats are metabolized, takes place within the mitochondria of cells. Long-chain fatty acids, however, cannot enter the mitochondria unless they are attached to carnitine. Carnitine palmitolytransferase is the substance responsible for connecting carnitine to long-chain fatty acids.

Symptoms of CPT I typically include hypoglycemia (low blood sugar), enlarged liver, muscle weakness, and elevated carnitine in the blood. Usually detected as part of newborn screening, CPT I should be treated as early as possible. In some instances, CPT I may not start until adulthood. In those cases, symptoms may include severe and sudden muscle cramping, low blood sugar, and liver dysfunction.

Symptoms of CPT II typically include hypoglycemia (low blood sugar), high ammonia levels, fatigue, vomiting, and seizures, as well as episodes of poor feeding, infection, or diarrhea. These symptoms can progress to the point where someone with CPT II may experience coma, cardiac arrest, brain damage, or death. It is important to treat CPT II as early as possible.


James Ernest Cassady

James Ernest Cassady

Though "Ernest" is a family name that's been passed down for generations, James truly earned his middle moniker when, at the age of five, he told his mother that "laughing is stupid unless EVERYBODY is happy." Since then, the serious little bastard has been on a mission to highlight the world's shortcomings (and hopefully correct them). In addition to his volunteer work at hospitals and animal shelters, James also enjoys documentaries and the work of William Faulkner. He is originally from Oklahoma.

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