Local company may hold key to medical miracle

Twins Addison and Cassidy Hempel receiving their first dosage of Cyclodextrin in April 2009 via an infusion through surgically inserted mediports.

There’s nothing worse for parents than seeing their children suffer.

But what do parents do when doctors tell them there is nothing that can help make your sick child better?

In October 2007, Chris and Hugh Hempel, of Reno, Nevada, learned that their twin daughters, Addison and Cassidy, have an ultra-rare, fatal genetic disease called Niemann Pick Type C disease (NPC). The disease is caused by abnormalities of a specific gene that controls the body’s ability to regulate cholesterol at the cellular level.

In patients with NPC, like Addi and Cassi, as their parents call them, the gene doesn’t function properly, allowing harmful amounts of cholesterol to accumulate throughout the body and brain.

Often referred to as “Childhood Alzheimer’s,” it’s a degenerative disease, leading to the gradual loss of basic motor skills, the ability to walk and speak, memory loss, and ultimately death.

Addi and Cassie were 3 when they were diagnosed. Now they’re 6.

But a local laboratory may hold the key to helping the twins and others like them.

A disease with no cure

Addi and Cassi are two of about 500 people in the world with Niemann Pick Type C. As with many other ultra-rare diseases and disorders, because there is such a small patient population, and thus not a huge profit to be made, it is notoriously difficult to fund research for experimental treatments and new drug development.

When the twins were diagnosed, there was only one medication available known to “possibly” show improvements in NPC patients.

Zavesca is in the second stage of a clinical trial, and the twins’ insurance company approved it as an “off-label” treatment, explained their mother, Chris.

When the doctors prescribed it, they said it would not cure Addi and Cassi’s condition, and there was no guarantee they would improve at all. Zavesca is known to show more results in older patients, and has proven less effective in children as young as the twins.

But the Hempels refused to settle for no solution.

“We’re working toward showing that there may be a way out of a hopeless situation,” said Chris.

A small company that could make a big difference

CTD Holdings, Inc. is a public corporation dealing in the development, marketing and selling of cyclodextrins. The name, CTD, stands for Cyclodextrin Technology Development.

Though the company’s address reads “High Springs,” its headquarters is technically located in unincorporated Alachua County.

The property is hidden amidst untouched green fields and farms, and the occasional home, less than 10 miles southwest of downtown High Springs.

CTD president and chief executive officer Rick Strattan explained that cyclodextrins are composed of rings of sugar molecules that are used to make non-water-soluble substances water-soluble.  In other words, when a cyclodextrin compound is introduced into a substance that would not dissolve in water, that substance becomes dissolvable.

Chris Hempel, who is constantly checking on all the latest research relating to Neimann Pick Type C, came across a study from the University of Texas Southwestern, on the effects of cyclodextrin injections in mice with the same genetic defect as her daughters have. The mice were getting better.

She started reading everything she could find on cyclodectrin. It wasn’t long before she contacted CTD’s Strattan.

The plan was to receive approval to treat Addi and Cassi with cyclodextrin infusions, in hopes that it would make the cholesterol clogging up their cells water-soluble.

More than 50 percent of the human body, Strattan pointed out, is made of water.

This backup of cholesterol that their bodies can’t process would dissolve — maybe not entirely, but at least enough to slow down the disease.

The dilemma was that Chris had no evidence that cyclodextrins were safe for human use. But at the urging of Strattan, she convinced Johnson & Johnson to release data showing just that, as the company uses cyclodextrins in an antifungal product.

The next step was to file an Investigational New Drug Protocol, or IND, with the Food and Drug Administration.

After doing the paperwork, the Hempels obtained compassionate use approval from the FDA in April 2009, meaning Addi and Cassi could receive cyclodextrin infusions, though the treatment is not FDA-approved for the market and no one else can get it legally in the United States.

The twins now get infusions once a week of Trappsol Cyclo, the name brand product from CTD. Since starting the treatment, their mother said they are showing improvements in their balance and basic movements; they can walk and they’ve shown improved swallowing capabilities.

She said now she’ll be asking the FDA to approve putting the Trappsol directly into Addi and Cassi’s spinal columns, in order to reach their brains.

“We want to arrest the progression of the disease — or at least slow it down more,” explained Chris. “But we don’t know what will happen. It’s never been done before.”

FDA designation will move research along

In May, the Hempel family and CTD Holdings, Inc. shared a monumental triumph on the path toward more effective treatment for Neimann Pick Type C.

The FDA granted orphan drug status to Trappsol Cyclo for the use of treating NPC.

“Orphan Drug” is a special designation given to products used to treat diseases with a patient population fewer than 200,000. With about 500 patients worldwide, NPC qualifies.

The designation provides protection in the market, naming CTD the exclusive patent holder for an extended amount of time. It also allocates tax exemptions for human trials to be held. This helps to re-coop some initial production costs, explained Strattan.

New facility will create local jobs

Currently, Strattan is in the process of forming a new company, in collaboration with his affiliate Dr. Jeffrey Tate, to head the research and production of Trappsol Cyclo. The name of the new company is Sphingo Biotech. The name derives from the fact that Neimann Pick is a sphingo lipid metabolism disease.

They intend to use the orphan drug benefits toward this company, which will in turn help to fund the next phase in getting Trappsol Cyclo market approval.  Market approval will allow physicians to write prescriptions for it like any other medication, and that revenue would fund research for possible treatments for other cholesterol diseases, both rare and common.

But Strattan said he couldn’t elaborate on that yet.

Solutions to the most rare diseases, Chris pointed out, can help the most common ones.

“Do you know how many millions of people are impacted by cholesterol problems?” she asked. “My children just happen to have one of the worst ones.”

About two weeks ago, Tate received approval on the necessary permits to build a new facility on the CTD property.

A few hundred square feet of additional structure will house a pulse-drying technology used to combine various pharmaceuticals with cyclodextrins, making them water-soluble, which allows for smaller, more concentrated doses.

Cyclodextrins are industrial chemicals that must be transformed into an intravenous substance for pharmaceutical applications, they explained.

The pulse-drying facility will dissolve the industrial material in highly purified water to clean it up, and then dry it using pulse technology to make it safe.

“We take cornstarch and turn it into magical bio-chemicals,” Tate said. The process uses electricity, propane gas and water. There is nothing coming from this operation, they said, that would harm the environment.

It’s worth noting that CTD already has a global market for cyclodextrin products. As this new facility is completed, it will bring a variety of jobs, from highly specialized to entry-level positions, to the area.

“This is an instance where we’re serving a global market from a small rural headquarters,” Tate said.

Discussions of possible collaborations have been started with the University of Florida, but they could not elaborate yet.

Though Tate urged him not to get ahead of himself, Strattan said this could become the mecca for treatment, meaning it could become the international destination for people with NPC and other cholesterol diseases.