"All the work we did in the past has laid the foundation for this," says Cindy Parseghian about a new drug being tested for Neimann-Pick Type C, which killed three of her four children.


In the 18 years since her family began advancing research into the extremely rare, fatal disease that killed three of her four children, Cindy Parseghian has never felt more hopeful about a treatment.

Phase One human clinical trials using the drug cyclodextrin to treat Niemann-Pick Type C recently began in a study overseen by the National Institutes of Health.

In the initial stage, nine children are undergoing treatment with cyclodextrin to test for safety. The drug is being administered directly to the patient's brain once per month, says senior investigator Dr. Forbes Porter of the Eunice Kennedy Shriver National Institute of Child Health and Human Development.

The incidence of Niemann-Pick Type C in the population is believed to be minuscule - about one in every 100,000 people. But some researchers say there's a possibility that an effective treatment could benefit people suffering from other cholesterol-related disorder, too. The disease causes changes in the brain that are similar to Alzheimer's.

Cyclodextrin is a cyclic sugar molecule that's not currently approved to treat any other illnesses. Researchers first started investigating it for treating Niemann-Pick Type C about seven years ago.

The drug is not a cure or a preventative and the clinical trials need to expand to two more phases before federal approval would be possible.

But Parseghian, who lives in Tucson, says it shows great promise in slowing the progression of the disease, which stems from a genetic inability to metabolize cholesterol. As a result, excess amounts of cholesterol accumulate within the liver, spleen and brain, scientists say.

The disease is merciless, causing progressive impairment of motor and intellectual function in early childhood. Life expectancy does not normally exceed a patient's teenage years.

Since there are no therapies for Niemann-Pick Type C that are approved by the U.S. Food and Drug Administration, the advancement of cyclodextrin to clinical trials on humans represents major progress, said Parseghian, who created the Ara Parseghian Medical Research Foundation along with her husband, Dr. Michael Parseghian in 1994, shortly after learning that three out of their four children had the disease.

The Tucson-based foundation is named for Michael's father, the well-known former Notre Dame football coach. The nonprofit has provided more than $3 million in grants to the cyclodextrin research project over the years, and officials with the National Institutes of Health say the drug trial would not have been possible without the Parseghian family's support.

Another drug called Zavesca has been used to treat Niemann-Pick Type C but it is not federally approved and not tolerated by all children. Parseghian believes cyclodextrin shows more promise for having fewer side effects. And since Zavesca is not an approved treatment some insurers will not cover it. The cost is about $100,000 per year, Parseghian said.

Senior investigator Porter is conducting the cyclodextrin trial and is also doing a natural history study of the disease by collecting information from patients in an effort to understand how it develops. The drug could eventually be used in a cocktail combination if other therapies are approved that address other symptoms of the disease, he said in an email.

The cyclodextrin trial is good news for a family that has endured the unthinkable.

"It has been heartbreaking to watch all of this. I attended three Parseghian funerals," said Parseghian family friend Dave Sitton, who is holding a fundraising rugby game for the family foundation this weekend. "The research foundation is an incredible story and the research is accelerating at such a pace that we are likely to see a lot of things happening very quickly."

The Parseghian family had no knowledge of Niemann-Pick Type C in 1994, when their second-eldest child Michael began showing signs that something wasn't quite right. He was not becoming agile like his friends, his eye movement was off and he had a slow speech pattern. He was 7 at the time. Diagnoses then followed for 3-year-old Christa, and Marcia, then 5.

The disease occurs when both parents carry one copy of the abnormal gene that causes Niemann-Pick Type C. When both parents are carriers, there is a 25 percent chance that their child will have the disease.

Michael died in March 1997, four days before his 10th birthday. Christa was 10 1/2 when she died in October 2001.

Marcia lived the longest of the three, and died in 2005 just three months shy of her 17th birthday.

The family's eldest son, Ara Parseghian, does not have the disease. He graduated from medical school and is doing a residency in anesthesiology on the East Coast. He is also on the family foundation's board.

What has fueled the family all along is working on behalf of Michael, Christa and Marcia to understand, and to better treat the disease that took their lives. There were no drugs to treat the three Parseghian children when they were ill with the exception of Zavesca, which Marcia took for a brief period but did not tolerate very well.

If the new drug proves safe and effective in treating the disease, it's impossible to predict how long the FDA approval process would take. Parseghian remains optimistic.

"We've been moving towards this for 18 years," Parseghian said of the clinical trials. "All the work we did in the past has laid the foundation for this."

On StarNet: Go to azstarnet.com/gallery for more photos of the Parseghian family.

More online

Learn more about the Ara Parseghian Medical Research Foundation at www.parseghian.org

If you go

A University of Arizona rugby match against Notre Dame scheduled for 2 p.m. Sunday will raise money for the Ara Parseghian Medical Research Foundation.

The Ara Parseghian Cup Match, sponsored by Tucson Medical Center, will cost $10 per person and is set to be held at UA Murphey Soccer Stadium, 2300 E. 15th Street at Plumer Avenue. Children ages 9 and under are free.

Contact reporter Stephanie Innes at sinnes@azstarnet.com or 573-4134. Twitter: @stephanieinnes