Posts Tagged ‘ genetic diseases ’

Infant Life-Saving Drug Awaits FDA Approval

Tuesday, June 11th, 2013

Omegaven, a medication developed at Boston Children’s Hospital to save the lives of infants who cannot absorb nutrition, is stuck in the FDA approval process, apparently causing delays that leave parents and doctors alike frustrated and worried.  The drug is a crucial part of treatment for Microvillus Inclusion Disease, a rare genetic condition in which a child cannot absorb fluid or nutrients except through a direct injection of a treatment called total parenteral nutrition, or TPN.  TPN, however, can cause liver damage over time; Omegaven counters that damaging effect.  More from NBC News:

The potentially life-saving medication Omegaven, an intravenous mixture made with fish oil, reduces the fatal fat accumulation in children’s livers caused by TPN. Fish oil contains anti-inflammatory omega-3 fatty acids, which have been shown to prevent fat buildup.

It is unclear when or whether Omegaven will be approved. The normal FDA process for approval is to test medications in large trials that randomly assign patients to receive either the new drug or a placebo. In fatal illnesses, that can present doctors with a tough ethical quandary: Do you do the science right and potentially lose some patients or just keep treating patients in research studies.

Not daunted by the lack of FDA approval, Sam [O’Connor's] family signed him up for a Boston Children’s Hospital research study looking at the new medication’s efficacy.

It didn’t take long to see results.

“For me, it was . . . the personality change,” Debra said. “To have him start responding to me and playing, it’s just like he’s actually a person again. You know, it’s almost like his life started at that point because before it was just enduring.”

Now 5, Sam is one of the lucky ones because he was able to get the drug he needed. Other children aren’t so lucky, says Puder, who developed the Omegaven treatment after watching up to four children die from liver failure each year at his hospital alone.

Without FDA approval, Omegaven is available only to those who can come to Boston to take the drug in a research protocol, or at another hospital with special dispensation from the FDA, a provision called “compassionate use.”

Image: Doctor holding infant, via Shutterstock

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Boy Ordered to Transfer Middle Schools for Having Cystic Fibrosis Gene

Friday, October 19th, 2012

An 11-year-old California boy has been told he needs to transfer to a different public middle school because he carries the gene for–but does not have–the genetic disease cystic fibrosis.  From MSNBC.com:

Colman Chadam, was told last week that he’d have to transfer from Jordan Middle School in Palo Alto, Calif., to a school three miles away because he posed a risk to another student at school who does have the disease, according to TODAY.

“I was sad but at the same time I was mad because I understood that I hadn’t done anything wrong,” Colman told TODAY. He added: “It feels like I’m being bullied in a way that is not right.”

An inherited condition, cystic fibrosis causes the body to create a thick mucus that clogs the lungs and can lead to life-threatening lung infections. About 30,000 American adults and children have the disease and patients have an average life expectancy in the late 30s.

While it is not contagious, doctors say people with cystic fibrosis can pose a danger to each other through bacterial cross-contamination if they are in close contact.

“In general, we would prefer that there not be more than one cystic fibrosis patient in a school,” Dr. Thomas Keens, the head of the cystic fibrosis center at Children’s Hospital Los Angeles, told TODAY.

The district’s assistant superintendent, Charles Young, told NBC News that officials relied on medical authorities who said “a literal physical distance must be maintained” between patients and that the “zero risk option” was to transfer Colman.

Colman’s parents are homeschooling him while they await a decision on the school situation.  They emphasized to the media and to school officials that their son has never had a clinical diagnosis of cystic fibrosis.

Image: School bus, via Shutterstock

 

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