Rare Disease Day Symposium: It Takes a Village

March 29, 2023

Presenters at rare disease day symposium talking to the crowd

Quinnipiac’s ninth annual Rare Disease Day Symposium at Frank H. Netter MD School of Medicine was held on March 24. Focused on pediatrics, it was presented in collaboration with Connecticut Children’s Research Institute (CCRI) and culminated with a roundtable, “Providing Hope: Clinical Trials for Rare Diseases…It Takes a Village.”

Supported by the Pullano Family Endowed Fund for Rare Disease Education and Research, the annual symposium serves to promote interprofessional healthcare education, awareness and advocacy for the rare disease community, and a learning opportunity for current medical students.

Quinnipiac associate professor of medical sciences Carolyn Macica, MD, is chair/coordinator and faculty adviser for the program. Each year, she leads the symposium assisted by faculty and students engaged in the field of rare diseases.

At CCRI, Macica is the director of research operations and development. She leads CCRI in efforts as this institute is the research arm of the Connecticut Children’s Medical Center.

“This year’s event is our first collaboration with Connecticut Children’s, and they do some amazing clinical trials on rare diseases," said Macica. "I thought holding a roundtable would be a great opportunity to showcase not only the rare disease Osteogenesis Imperfecta but also to have a behind-the-scenes look at how a clinical trial is run."

Osteogenesis Imperfecta (OI), a rare bone disease, is one of over 7,000 rare diseases. The National Institute of Health estimates that 30 million Americans, or one in 10, are affected by a rare disease. While approximately 50 percent of those affected are children, it is harder to gain approval for drug therapies for the pediatric population as the process lags about five to 10 years compared to the adult approval process, said Alison Oville, CCRI director of clinical trials and moderator of the roundtable discussion.

Oville said clinical trials represent the completion of years of preclinical inquiry, discovery and development to ultimately provide an opportunity for patients and families to access investigational therapies.

“We’re proud to share this experience on behalf of Connecticut Children’s and others who are committed to the pursuit, scientific rigor and execution of developing novel therapies for rare diseases,” said Oville.

The roundtable provided students with meaningful, engaging insight from professionals and patients, well beyond the typical data, tables and results found in medical trial journal articles, said Macica.

“This really brings the whole clinical trial experience to life while showcasing a rare disease that is both studied at Connecticut Children’s and also is involved in an active clinical trial for a new therapy for the treatment of this really devastating disorder.”

Panelists were Karen Loechner, MD; Hendriana Nielson, RD, BSN; James Santanelli, MS, MPH; Jenny McCue, executive director, patient advocacy, Ultragenyx Pharmaceutical Inc.; Michelle Duprey, a patient representing the OI community; and Pullano family member Holly LaPrade, ’06, representing the fibrodysplasia ossificans progressiva community.

LaPrade said one in two million is diagnosed with ultra-rare bone disease. She was diagnosed at age 16.

“Here we are, 25 or so years later, and I just had the privilege of participating in a clinical trial for three years of my life,” said LaPrade. “And that drug now is being reviewed by the FDA, and they’re expected to most likely approve it in August of this year; which brings it back full circle to what we’re talking about today. We're all here today because of hope. Even though our rare conditions may be different, we can all have that common bond of being hopeful.”

Duprey said one of the big complaints in her OI community is that members often don’t hear about the results of research projects and studies, or have access to results provided in layman’s terms.

“I think there needs to be a closing of that loop,” said Duprey. “So even if you’re not participating in a trial or research project, there’s some communication that the education is advancing. I think that will help the community see the benefit of participating in future studies.”

The symposium also featured two keynote speakers. Robert Burgess, Ph.D., from the Jackson Laboratory, discussed moving from basic science to testing therapies in rare neurological diseases, using mouse models to understand disease mechanisms, identifying therapeutic targets and performing preclinical studies.

Keynote speaker Gyula Acsadi, MD, pediatric neurologist and division head of neurology at Connecticut Children’s Medical Center, spoke on genetic therapies for neuromuscular diseases.

The symposium’s Rare Disease Patient and Provider panel was moderated by Marsha Lanes, Genetic Counselor/Medical Editor at National Organization for Rare Disorders. Panel members included patients representing the OI community and Glycogen Storage Disease community, and family members representing the Spinal Muscular Atrophy community and Spinocerebellar Ataxia Type III community.

In her welcoming remarks, president Judy Olian discussed the many challenges impacting the path to successful rare disease research and treatment, the need for continued pursuit through the joining of many disciplines and the importance of fostering advocacy. She noted that, since 2015, Quinnipiac’s annual symposium has provided an opportunity for patients, family members, clinicians and researchers to share their insights, research and experiences.

“We’re especially proud of Quinnipiac's School of Medicine's commitment to Rare Disease Day," said Olian. "In medicine, it is the big diseases that catch the most attention. Yet every life is equal. Every life deserves to be treated, healed and saved."

Anoush Calikyan ’23 was one of the symposium’s student coordinators.

“As a student, this event is so important because we don’t really have a lot of exposure to people with rare diseases,” Calikyan said. “We tend to overlook them in medical education, or push it to the back of our brains because we try to focus on the most common diseases or those we may see most often. The fact is that because there are so many people out there with rare diseases, it’s counterintuitive to ignore them.”

Calikyan said she was drawn to study medicine due to a person in her life affected by a rare disease.

“As a student coordinator of this program, I feel it’s just amazing that I get to be a person that brings this to our school,” said Calikyan. “I wish there were more people in other universities that did something similar to make sure everyone who is in medicine is aware of rare diseases, hears the advocacy for it and gets to have that become a part of their life as well.”

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