Under the Hood

What Is ‘Childhood Alzheimer’s’? New Treatment Offers Hope To Teens With Rare Disease

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Children with Niemann-Pick disease type C are often diagnosed during elementary school, and experience quick progression of the disease by their teens. Pixabay, public domain

A rare disease known as Niemann-Pick disease type C (NPC), which afflicts one in 150,000 children and teenagers, is largely unheard of but leaves patients and families in a state of desperation. If diagnosed, a child will experience quick and progressive mental and physical deterioration over the course of several years — similar to Alzheimer’s disease, hence its nickname of “childhood Alzheimer’s.” Like Alzheimer’s, Niemann-Pick disease type C has no cure and typically leads to death.

Niemann-Pick disease type C isn’t related to Alzheimer’s, however — not even early-onset Alzheimer’s, which tends to strike people in their 40’s and 50’s. NPC is a lipid storage disease, a type of inherited metabolic disorders in which an excess of cholesterol gathers in the body’s cells and tissues. This accumulation of lipids gradually leads to permanent damage in the cells and tissues of the brain, peripheral nervous system, liver, and bone marrow. In cases of NPC, patients will often experience seizures, dementia, coordination and movement problems, as well as difficulty speaking, eating, and swallowing.

There’s currently no approved treatment by the FDA, but one pediatric neurologist at Rush University Medical Center in Chicago is paving the way — and offering families hope — with a new drug known as cyclodextrin. There are some 40 patients in the U.S. who are taking the experimental treatment that Dr. Elizabeth Berry-Kravis is spearheading, including Hayley Koujaian, a 16-year-old who was diagnosed with NPC at age nine and functions at the level of a toddler.

“It’s a horrible disease,” Berry-Kravis told Health News Digest. “Unlike a lot of other genetic disease, there’s often no hint that there’s anything wrong when the child is born. In the classic form of the disease, these are beautiful, normal kids until they reach school age. Then they start to have trouble with learning, some of them develop motor disturbances, some can’t talk well, some of them develop seizures and behavioral problems or psychosis, and death usually occurs by 20.”

In describing children with NPC, Hayley’s father, Harry, told The Chicago Tribune: “You’ve got kids who are dying, kids in wheelchairs, kids who can’t eat, kids on feeding tubes. It’s a cruel disease.”

It’s no surprise then, that Hayley’s parents were desperate for any type of treatment. In the past two years of taking the drug, Hayley has miraculously shown some improvements in swallowing, walking, and speaking sentences; she also has been seen singing, whereas before the treatment she was declining quickly. Berry-Kravis and Hayley’s parents believe if it weren’t for cyclodextrin, Hayley may already be in a wheelchair and unable to speak at all.

In cooperation with Dr. Denny Porter at the National Institutes of Health, Berry-Kravis is conducting a study that examines the efficacy of cyclodextrin, which is being developed by Vtesse, a company that investigates rare disease. In past studies, cyclodextrin proved to be effective in helping cats and mice improve compared to those who were left untreated; other 2014 research out of the Whitehead Institute for Biomedical Research, however, cautions against too high of a dose of the drug. It will take some time for researchers to fully grasp the long-term effects of the drug on NPC patients.

Though cyclodextrin may not cure the disease, it has shown hope in at least slowing its progression — which is all many patients need. “We would not be here, like this,” Gail Koujaian told The Chicago Tribune, explaining that without the treatment, Hayley’s disease would have progressed much further. “Maybe we would be pushing her wheelchair. Maybe we would be cleaning her feeding tube.” But the treatment is the first time that the Koujaians and many other families have hope in defeating "childhood Alzheimer's."

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