The Spanish Society of Paediatric Pneumology (SENP) shows its commitment to research on the primary ciliary dyskinesia syndrome and grants aid of €10,000 to Dr Amparo Escribano, head of the paediatric pulmonology section of the Paediatrics Department at Valencia Clinical University Hospital and researcher at INCLIVA Health Research Institute.
This aid adds to the prize awarded by the Valencian Society of Pneumology and is granted to the research project "Characterisation of oxidative stress in nasal epithelial cells from patients with primary ciliary dyskinesia". Lecturers from the Faculty of Medicine Amparo Escribano, Francisco Dasí and Miguel Armengot lead the project which will serve as a basis for the doctoral thesis by Shirley Camacho, a predoctoral researcher at INCLIVA.
In the words of Dasí, "we must thank the effort of medical societies to support research on respiratory medicine, because budget cuts in R&D governmental programmes make it very difficult to launch new lines of research, especially in rare diseases, which involve more risks given our little knowledge of their biological mechanisms".
This study is the result of collaboration between the research institute at Valencia Clinical University Hospital and the University General Hospital of Valencia, a reference centre for this disease. It will be conducted on the premises of the Central Research Unit of the Faculty of Medicine at the University of Valencia.
The primary ciliary dyskinesia syndrome (PCDS) is a rare, hereditary disease characterised by the fact that, from birth, patients suffer from chronic inflammation and infection of the airways and other clinical aspects such as decreased fertility or, in 50% of the cases, situs inversus, i.e., inverted placing of internal organs.
According to Amparo Escribano, "the project funded is mainly aimed at determining the profile of oxidative stress in hair cells of the nasal epithelium of patients with primary ciliary dyskinesia, and at relating these parameters to their clinical and pathological features with a view to getting a therapeutic target that can improve their condition".
The method of study is to establish lines of nasal epithelial cell culture through the new technique of in vitro culture, which allows cell growth and differentiation at an air-liquid interface, mimicking their growth under natural conditions. Once the samples grow, the next step is to determine their oxidative profile by fluorescence-based flow cytometry. This will serve to assess the role of oxidative stress in the clinical and developmental expression of the disease. The study will involve a group of healthy subjects, also called control group, and 3 different groups of patients including those diagnosed with PCD, those with symptoms similar to PCD but normal ciliary function, and those with a chronic inflammation of the airways of a different origin.
An accurate diagnosis of the disease often covers several steps including conducting various tests, some of which only serve as an initial screening, and others which are the final diagnostic tests. Among the former there would be those to determine the levels of exhaled nasal nitric oxide (very low in most of these patients) or those to assess mucociliary transport. The latter would include the study of the ciliary beat frequency and pattern by using a high-resolution and high-speed digital video. This is currently considered the "gold standard" for diagnosis, even if it is not a 100% reliable for the fact that some minor disturbances can lead to false-positive or false-negative results and that the study of the ciliary ultrastructure will only diagnose a percentage of cases. So far, researchers have identified some 21 genetic mutations involved in the disease, which can be studied in our centres.