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Home » Rare Diseases » New Clinical Trials Offer Hope in Two Rare Genetic Diseases

Research is at a new stage of development for two genetic diseases that are devastating to children and young adults and the families that support them.

In 1994, three of Cindy Parseghian’s four children were diagnosed with Niemann-Pick disease type C (NPC). NPC is a genetic disorder causing an inability in cells to remove cholesterol, resulting in lipid buildup and cell death. Like all three Parseghian children, most children diagnosed do not make it to adulthood.

In 2011, Dakota Fisher-Vance, a pre-med student, received her B.A. in biology and a diagnosis of familial adenomatous polyposis (FAP), which leads to exponential growth of polyps in the colon and eventually cancer. The main treatment is ultimately surgical removal of the colon and other parts of the GI tract.

What do Cindy and Dakota have in common? They’ve stayed positive and committed to building the strongest community they can around these devastating diseases. And new clinical trials in both NPC and FAP offer a ray of hope in bleak situations.

A community of support

Being diagnosed with a rare disease is a life-changing experience, and Dakota and Cindy are doing all they can to help others who are going through it.

“I’m a huge community person, that’s what’s guided a lot of decisions in my life,” says Dakota, who started a YouTube channel for FAP and now works for a company doing community outreach for rare illnesses. “In the rare disease space, one of the biggest things you can do is connect.”

And Cindy, with a background in business and her husband’s connections as a medical doctor, was able to start a foundation dedicated to NPC research.

“Named in honor of my father-in-law, the Ara Parseghian Medical Research Foundation has raised about $45 million and been very instrumental in research that has occurred over the last 23 years.”

New treatments in development

For both of these illnesses, there is hope, as the number of researchers and companies dedicated to finding new treatments has increased. Sucampo Pharmaceuticals, Inc. is currently engaged in a phase 3 clinical trial for NPC Type C-1 and has an exclusive option for the North American license to an FAP program in phase 3 development by Cancer Prevention Pharmaceuticals, Inc.

Results are expected by the middle of next year and late-2018, respectively. The FDA has approved a compassionate-use program for NPC-1, whereby eligible families can access the drug in development outside the clinical trial.

Everyone involved understands how important it is to get this pipeline moving. “I have kids myself,” says Peter Kiener, Ph.D., chief scientific officer at Sucampo Pharmaceuticals. “Being able to bring a therapeutic solution to kids who have genetic diseases, who up until recently have had no hope is unbelievably motivating. We’ve got to make these drugs work, because these kids need something.”

The future of research

Over the years, research into rare diseases like these has lead to tremendous breakthroughs for the general population, such as the discovery of the LDL receptor and cholesterol-lowering drugs.

“In these days of constrained budgets,” says Dr. Elena Stoffel, director of the Cancer Genetic Clinic at University of Michigan, “finding ways to help support medical research through collaboration of federal, private and non-profit funding will be vital in advancing the therapies of complex diseases.”

We need to work together to move forward. For inspiration, just look at the patients, says Kiener: “You talk to Dakota, she’s an amazing woman … or you meet some of the kids with NPC and their parents, like Cindy — those are the people that are really inspiring.”

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