Over the past three decades, Cindy Parseghian has become a nonprofit trailblazer, a fundraiser and an MBA-turned-scientist. For children with Niemann-Pick Type C Disease and other rare diseases and their families, she is also a superhero.
“All children with NPC disease and other rare diseases deserve the fullest lives possible,” Parseghian said. “It is the generosity of so many supporters, including those in the Tucson community, that has allowed us to advance understanding of NPC and move the research forward.
“It is heart-warming to know that other rare diseases will also benefit from this work. Our research will also benefit more common diseases such as Alzheimer’s, stroke and other cholesterol disorders.”
In a story known to many Tucsonans, she and her husband, Mike, were galvanized into action when three of their four children — Michael, Marcia and Christa — were diagnosed with NPC disease, a fatal neurodegenerative disorder.
With the support of family, friends and a force of volunteers, the Parseghians founded the Ara Parseghian Medical Research Foundation in 1994. Named for Mike’s father, the legendary University of Notre Dame football coach who won two national championships from 1964 to 1975, the nonprofit mounted a rigorous offense to fund research toward treatments and a cure for the disease.
The One More Victory, Ara! Gala and Golf Tournament became a Tucson fundraising fixture for 15 years, leading the charge against NPC disease as the foundation raised more than $33 million and implemented research that resulted in isolation of the NPC1 gene in 1997. Detection of the gene also revealed a previously unknown cholesterol pathway in humans.
Other landmarks for the foundation included formation of a national NPC Genetic Counseling and Carrier Testing Center in partnership with the Mayo Clinic; establishment of an International NPC Disease Registry & Newborn Screen Initiative for NPC1; screening of FDA-approved drugs for potential therapies for NPC patients; and development of three drugs that have been in clinical trials and are awaiting approval from the U.S. Food and Drug Administration.
The foundation marked another milestone in 2016 when it merged with the Ara Parseghian Medical Research Fund at the University of Notre Dame. Notre Dame now provides legal and marketing services, rent and administrative assistance for the fund.
“Notre Dame is providing a treasure trove of services for free, so 99% of all dollars go to research. This assured us that our work will continue until a cure is found. Once that happens, the work of the fund will turn to understanding other neurodegenerative diseases,” said Parseghian.
She also emphasized that while Notre Dame houses the APMR Fund, researchers from the university receive no precedence for research dollars.
“We still fund grants worldwide. Notre Dame researchers compete with top-notch researchers from around the world to obtain funding. A Scientific Advisory Board made up of independent researchers review all of our grant requests and determine the best applicants and who we should fund,” she said.
That board convened last month with a group of international researchers, scientists, and children and families at the 2022 Michael, Marcia & Christa Parseghian Scientific Advisory Board Meeting at the Westin La Paloma Resort & Spa. The purpose of the annual conference, which was also attended virtually by scientists and families around the world, is collaboration and sharing of basic, translational and clinical research with the goal of attaining greater understanding and a cure for NPC disease. Topics of focus included the development of biomarkers and adjustments to a severity scale for the disease in order to facilitate approval of the drugs in clinical trials.
“NPC is a rare disease with a great deal of heterogeneity. Some diseases have one or two mutations that determine the onset, but NPC has hundreds of mutations which result in differences in symptoms for every child. One child can’t walk but is intellectually doing well while another thinks like a 3-year-old but is running around and moving well. That makes it harder to determine disease development, which makes drug development more difficult,” Parseghian said.
The Fund’s Scientific Advisory Board and researchers are working with the FDA to determine biomarkers that will more accurately track the progression of the disease. Critical Path Institute, C-Path, a local nonprofit, is assisting with the effort.
“We actually expanded the conference just to focus on biomarker development, which is essential for drug approval by the FDA. Our hope is that these therapies will become approved and allow NPC patients to live longer, fuller lives. That was the thrust of our attention, along with funding of 20 research grants this year,” said Parseghian.
For the Parseghian family, the journey that began almost 28 years ago with a group of dedicated volunteers has evolved into a legacy hallmarked by lasting friendships and lives impacted worldwide. It is also representative of the singular determination and heart of a mother and father — who are now grandparents of two by their son, Ara, and his wife, Cicely — along with their extended family and the community that embraced them.
“We have now raised more than $50 million, and I want the Tucson community to know that we are still fighting the fight. I also want to make sure the community understands how blessed we have been by the many supporters who have given so generously to our efforts. That support didn’t end when we merged with Notre Dame. We are continually amazed at how our hometown has supported us for over 25 years,” she said.
For more information, or to make a donation, visit parseghianfund.nd.edu.
