Niemann Pick Type C Treatment Could Deliver AIDS Breakthrough

I am so proud of Chris and her girls!  Chris, you are still and always will be my supermom mentor!  We love you guys!

Rare Disease Treatment Could Deliver AIDS Breakthrough
Thursday, April 2, 2009

OAKLAND — At Children’s Hospital in Oakland, researchers searching for the cure to a rare disease afflicting a pair of twin girls have discovered a startling ray of hope that may lead to a breakthrough treatment for AIDS.

Five-year-old Addison Hempel and her twin sister Cassidy are both stricken with Niemann Pick Type C Disorder, a rare and deadly disease that disrupts the metabolization of cholesterol.

The brain cells die because of it. They can’t process cholesterol, explained the twin girls’ mother Chris Hempel. They end up in wheelchairs. They can’t swallow. It’s fatal and there’s no treatment.

The first symptom was a swelling of their spleens. It was a cancer specialist who first noticed signs of Niemann Pick Disorder. The girls also started having symptoms of weakness and clumsiness similar to very early onset Alzheimers’. Niemann Pick is often referred to as “childhood Alzheimer’s” because of these similarities.

The lack of available treatment for the disease led the Hempels to search for a cure on their own. They went on the Internet and found a study that said it cured mice that were genetically modified to have Niemann Pick Disorder.

The treatment was a simple inexpensive sugary compound made from starch called Cyclodextrin.

The Hempel family took that research to their Doctor Caroline Hastings of Children’s Hospital in Oakland. With the twins’ condition rapidly getting worse, the Hempels knew there was no time to lose.

“We wanted to take the risk now, because our kids are deteriorating,” said Chris Hempel. “We don’t know what will happen. But I know it’s not going to hurt them, and we know in our mice that have the disease, it provides a big benefit. So why not?”

After receiving a special FDA exemption, Addi and Cassie are set to become the first humans to take Cyclodextrin therapeutically. Surgeons recently implanted intravenous infusion devices under the skin of each girl.

The hope for an even bigger benefit from Cyclodextrin treatment brought Nashville Doctor James Hildreth to Oakland. He studies HIV/AIDS. The connection between the two diseases?

“We made the discovery that cholesterol is required for HIV to be infectious,” explained Dr.Hildreth

The same compound that will hopefully drain cholesterol from the children’s brain cells – Dr. Hildreth has discovered – also drains cholesterol from the AIDS virus, killing it.

Collaborating with the Hempels, Dr. Hildreth is now working on an AIDS prevention based on Cyclodextrin.

“What’s really, really remarkable and got me so excited is here’s a substance that’s used by humans,” said Dr. Hildreth. “Millions are exposed to it every day. It’s exceedingly safe, but it can kill HIV. What more can you ask?”

The one-of-a-kind cholesterol trial for the twins will commence with a very low dose that doctors hope to increase steadily.

“What we don’t know about the drug is if it works,” said Dr. Hastings. “How much do we give and how frequently? We’re just starting with the protocol.”

The twins will get intravenous Cyclodextrin every week or so. Ultimately, doctors hope to develop a sort of portable pump that can deliver it directly, twenty four hours a day.

The twins’ are thrilled that the treatment might give their girls a fighting chance at surviving their battle with Niemann Pick Disorder.

“I feel such a relief to even have something to try that’s even a glimmer of hope,” said Chris Hempel.

The AIDS preventive, instead of being intravenous, could be a cream as cheap as ten cents a dose, that people worldwide could use.

“We hope to be doing trials in humans very soon,” said Dr. Hildreth.

Doctors say this collaboration could be a remarkable example of how smart use of basic research can save lives.

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