Primary Ciliary Dyskinesia (PCD) is an inherited (autosomal recessive) condition, that affects approximately one in 7,500 people. Mutations in approximately 50 genes have been found to cause PCD. This leads to a range in disease severity.
One in 20 people are carriers, with one affected copy of a gene that causes PCD. Leaders in the field think that carriers might have a separate set of symptoms that overlap with difficult-to-treat asthma.
What are Cilia?
Cilia are like microscopic hairs that are found throughout the body, including in the airways and sinuses. Here they beat to clear out secretions and infections.
In PCD, the cilia are abnormal and unable to move in the usual way. This means that secretions and infections affect the lungs, sinuses, ears and nose. Cilia are also important for the propulsion of sperm, so fertility is commonly affected as well.
The top video is of healthy cilia. The beat pattern to sweep out the mucous, debris and micro-organisms can be seen. In PCD, cilia either don’t move normally, or don’t move at all (bottom video).
Treatments
At present the respiratory aspect of PCD is managed by a brutal regimen of chest physiotherapy to try to prevent lung function decline. There are no dedicated treatments for PCD. Instead, current treatments have been borrowed from experience with people who have cystic fibrosis (CF). Physiotherapy is supplemented with frequent courses of antibiotics to treat and reduce episodes of pneumonia. This is a significant burden on people with PCD and their families.
Outcome
PCD is a life altering and life shortening condition. Children with PCD have been found to have worse lung function than those with cystic fibrosis (CF). In CF there has been an active program of research that has led to breakthrough drugs that almost cure CF. Sadly these drugs are not suitable for people with PCD.
Disease and Treatment Burden
People with PCD face huge challenges from living with the disease. Treatment causes an enormous burden in terms of the required hours of daily chest physiotherapy. In addition, patients are subject to frequent courses of antibiotics in an attempt to reduce the speed of lung function decline. Despite this, some people with PCD will still need a lung transplant.
Respiratory Function and Decline
While children and adults with PCD may look healthy, unfortunately PCD is a progressive disease, where lung function declines over time. At present there are no medications that can stop this decline or restore cilia function.
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