Connecticut’s Only Primary Ciliary Dyskinesia Center Launches

Connecticut Children’s and UConn Health are proud to announce the opening of a new Primary Ciliary Dyskinesia (PCD) Center, certified as a Clinical and Research Network Center by the PCD Foundation and dedicated to diagnosing and treating children and adults with this rare genetic condition.

PCD is characterized by chronic lung, ear, and sinus infections, along with other health problems such as newborn respiratory distress, situs inversus, and fertility issues, and affects individuals from all racial and ethnic groups. PCD is caused by mutations in genes that control the structure and function of cilia, tiny hair-like structures in the airways that help clear inhaled particles and bacteria. When cilia do not work properly, individuals are prone to infections in the ears, sinuses, and lungs, which can lead to bronchiectasis – a serious lung condition.

“PCD is often under-recognized and misdiagnosed, leading to delays in treatment,” said Dr. Melanie Collins, Co-Director of the PCD Center at Connecticut Children’s. “Our center aims to improve awareness and provide specialized care to patients with PCD, ensuring early diagnosis and effective management.”

“Because primary ciliary dyskinesia affects multiple parts of the body, it requires expert collaborative multidisciplinary care,” explained Dr. Mark Metersky, Co-Director of the PCD Center at UConn Health.  “Although rare, the disease is now being recognized more frequently due to the availability of more accurate testing.”

The PCD Center is committed to inclusivity and aims to address disparities in diagnosis and treatment. “PCD can be found in patients of all races and ethnicities-in fact if you look at genetics, we should be diagnosing more patients with PCD,” explained Dr. Collins. “Our goal is to increase awareness and access to care for all individuals with PCD, regardless of race or ethnicity, and we are actively evaluating new patients. We are committed to outstanding patient education to ensure our patients and families understand PCD and the latest medications available.”

The center is equipped with state-of-the-art technology, including a nasal nitric oxide machine funded by the Walden W. & Jean Young Shaw Foundation, which aids in the diagnosis of PCD. Additionally, advanced genetic testing is available to provide accurate diagnoses and personalized treatment plans.  Both the pediatric and adult center sites are engaged in high-level pulmonary research, and all eligible patients are enrolled in the US Bronchiectasis Research Registry (BRR) and the national PCD Registry tracking PCD nationally to advance scientific knowledge and research.

As part of the PCD Foundation Clinical and Research Centers Network, both adult and pediatric team members participate in monthly multidisciplinary conference calls with PCD centers across the nation to allow for collaboration, introduction to new research protocols and clinical case presentations. Furthermore, Dr. Collins has been designated as one of the co-leaders of the PCD Foundation Education Committee.

“Together, UConn Health and Connecticut Children’s are transforming PCD diagnosis, patient care, and research,” says Dr. Metersky. “The future is here. We are prepared to launch clinical trials to find a cure for PCD, including offering the first gene-based therapy for the disease.”

One of the key benefits of the Connecticut Children’s and UConn Health collaboration is the seamless transition of care for pediatric PCD patients into adult healthcare. “Our partnership allows for continuity of care as patients with PCD transition from pediatric to adult services,” said Jim Shmerling, DHA, FACHE, President & CEO, Connecticut Children’s. “This holistic approach ensures that patients receive comprehensive, lifelong care tailored to their individual needs.”

In addition, the PCD Center at Connecticut Children’s and UConn Health is the only certified center in the state, allowing us to provide true multi-disciplinary care complete with nutrition, social work, nursing and respiratory therapy embedded into each clinic visit.

“Rare disorders like PCD are difficult to diagnose and treat. They require the specialized expertise of exceptional teams dedicated to improving the health and long-term outcomes of these challenging patients, said Michele Manion, President and Executive Director of the PCD Foundation. “We are delighted to have found just such a team at Connecticut Children’s and UConn Health and look forward to a long and productive partnership.”

“UConn Health is truly inspired by the work of this new collaborative PCD Center with Connecticut Children’s. We are working together to raise awareness of this rare condition across the Northeast, especially among underserved populations, to ensure more and more children and adults get accurately diagnosed and offered the latest treatment options,” shares Dr. Bruce T. Liang, UConn Health Interim CEO.

While originally thought to occur in 1 of every 15,000 to 20,000 births, the latest research suggests PCD is more common with an estimated 1 in 7500 people having PCD worldwide. PCD is primarily a recessive genetic disease, meaning that both parents have to contribute the same abnormal gene for someone to be born with PCD.

The Connecticut Children’s and UConn Health PCD Center is poised to lead the nation in PCD diagnosis, education and treatment, providing hope and support to individuals and families affected by this rare disorder. The PCD Center at Connecticut Children’s and UConn Health is one of only two centers of its kind in all of New England.

To learn more visit:
www.connecticutchildrens.org/pcd-center

www.health.uconn.edu/primary-ciliary-dyskinesia-center