by Christina Echegaray
Michael O’Connor, MD, assistant professor of Pediatrics at Monroe Carell Jr. Children’s Hospital at Vanderbilt, has been named medical director of the Primary Ciliary Dyskinesia (PCD) Foundation Registry, which he also helped develop.
The registry will serve as a repository of clinical data that will include the demographics, symptoms and current therapies of patients with PCD who consent to participate. The hope is that the information will help PCD health care teams develop streamlined care guidelines, drive quality improvement initiatives and enhance PCD treatments and outcomes. Children’s Hospital is the lead regulatory site for the registry.
PCD affects the cilia, tiny hair-like structures that line the airways and are important for sweeping mucus up and out of the airway. Cilia are also important in the inner ear, where they help with fluid movement that prevents ear infections, and in reproductive organs. If the cilia don’t work well, bacteria stay in the airways and can cause breathing problems such as frequent cough and recurrent pneumonia. The symptoms of PCD usually start in the first year of life, but the average age of diagnosis is 5 years of age. But for too many individuals, diagnosis comes even later. The disease affects between one in 10,000 and 30,000 births.
Children’s Hospital is one of about 40 centers in the United States and Canada to be a fully accredited PCD Foundation Clinic and Research Network site, which seeks to improve awareness and collaboration for the rare inherited disease. Additionally, Children’s Hospital is also one of a limited number of centers and one of only two in Tennessee that offer specialized nasal nitric oxide (nNO) testing to diagnose PCD.
“The PCD Registry will make a profound difference in the clinical care of children with PCD as we start to collect longitudinal data from PCD centers across the U.S.,” said Paul Moore, MD, director of Pediatric Allergy, Immunology and Pulmonary Medicine, vice chair for Clinical Affairs in the Department of Pediatrics and associate professor of Pediatrics and Pharmacology. “Dr. O’Connor has played a visionary role in the creation of the registry, and he has achieved enormous respect within the PCD research community through his contributions.”
In the medical director role, O’Connor, who arrived at Vanderbilt as a resident in 2010, will be responsible for engaging and supporting participating registry sites across the country that are helping to provide insights and guide therapeutic development in PCD. Additionally, he serves as the principal investigator for the registry and lead site manager for Vanderbilt.
“It has been a pleasure working with Dr. O’Connor on the PCDF Registry, which is a pivotal program for the PCD Foundation and will be a critical tool for improving the lives of individuals with PCD. We especially value his leadership on regulatory issues and his energy, enthusiasm and collaborative approach to working with participating sites,” said Michele Manion, executive director of the PCD Foundation.
Children with PCD are seen by a multidisciplinary team at Children’s Hospital, including pediatric otolaryngology and respiratory therapists. They are monitored closely for respiratory infections and treated aggressively with antibiotics if they develop one.
O’Connor said the registry, which launched in January, has five participating sites across North America with a goal to add more in the coming year.
“I feel very humbled and honored to be a part of this effort,” O’Connor said. “While the registry will be a huge repository of data, it will be more than that, and will serve as a springboard to further research studies. This is a very collaborative effort and is part of a larger effort to build centers of excellence for taking care of individuals with PCD. It has a been a really awesome experience to see what this means to so many families impacted by PCD.”
