Rare Disease Research

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A Breath of Fresh Air for Research

Emily McKnight • 2/27/18

A Breath of Fresh Air for Research

At 7 years old, Stephanie Davis knew exactly what she wanted to be when she grew up – a pediatrician. What she didn’t know was that her career in medicine would expand beyond a traditional doctor’s office or hospital setting and into clinical and translational research. And she certainly couldn’t predict that she would become a leader in the diagnosis and treatment of rare lung diseases in children.

A graduate of Wake Forest School of Medicine, Davis continued her medical training through the pediatric residency and pulmonology fellowship programs at Indiana University School of Medicine, where she now serves as a professor of pediatrics and director of pediatric pulmonology, allergy and sleep medicine. Her primary research focus is in the areas of cystic fibrosis (CF) and primary ciliary dyskinesia (PCD), both of which are classified as rare diseases.

“As a pediatrician, I’m able to have an impact on not just the childhood years but on a person’s entire life,” said Davis. “So many lung diseases begin at an early age. It is my goal to change the disease trajectory, and to provide children with a life that is of much higher quality and longer lasting than they would have experienced without intervention.”

Davis is nationally known for developing specialized tools to detect and measure early lung and airway disease in children, allowing physicians across the country to assess the effectiveness of treatments for conditions like cystic fibrosis and primary ciliary dyskinesia. CF is a progressive, genetic disorder impacting approximately 30,000 Americans. It causes chronic lung infections, ultimately limiting an individual’s ability to breathe. PCD is characterized by the defective functioning of one’s cilia lining in the respiratory tract and is marked by chronic coughing, and sinus and ear infections. Fewer than 20,000 Americans have been diagnosed with PCD.

“So little is known about any rare disease because it is just that – a rare disease,” explained Davis. “While exploring the unknown is exciting, there are definitely several challenges we face as investigators, the biggest of which being funding.”

In addition to limited funding for rare disease research, rare disease investigators encounter the challenge of recruiting enough patients to participate in clinical trials. In clinical trial recruitment for more common conditions, investigators often turn to clinical trial registries where patients indicate their interest in participating in studies. Currently, there is no clinical trial registry for PCD research.

“With the number of individuals affected by any one rare disease being so small, especially in the case of PCD, we have to partner with national and international clinical sites to obtain an appropriate sample size,” Davis said. “This becomes very time consuming and very expensive, and it circles back to the lack of funding established for rare disease research.”

Partnering with the Primary Ciliary Dyskinesia Foundation and other clinical sites from across the globe, Davis and a team of researchers are functioning as part of CLEAN-PCD, a clinical trial that tests a novel inhaled compound designed to improve airway hydration and aid with the clearance of mucus for individuals with PCD. Riley Hospital for Children at Indiana University Health serves as the local clinical site for the trial; however, adults are welcome to participate.

“Physicians often underestimate how emotionally stressful it can be for someone who has a reoccurring symptom and no diagnosis associated with it,” said Davis. “If someone with PCD is never diagnosed or doesn’t receive a diagnosis until they’re into the adult years, they only become sicker over time.”

Documented cases exist of adult PCD patients requiring lung transplants and often the diagnosis in these patients have been delayed into adulthood.

“Through clinical trials like CLEAN-PCD, we’re not only providing hope for the participants actively involved in the study, but for the undiagnosed or misdiagnosed individuals with a rare disease everywhere.”

For more information or to become a participant of CLEAN-PCD, contact Miriam Davis.

Author

Emily McKnight

Content Marketing Manager

As the content marketing manger, Emily is responsible for the planning, organization and execution of effective digital marketing campaigns that align closely with the school's strategic priorities. A self-proclaimed "news nerd," Emily's background is in broadcast journalism and healthcare communications. She has a passion for storytelling and is excited to be able to share the stories of IU School of Medicine. Emily is also the proud and slightly obsessive mom of two furry felines, Fred and Oscar.