National Program for Respiratory Research

The beginning. About lung diseases ...

In such a huge field of research you start of course with a thorough stock-taking of all research. Where do we stand now?

12 research fields

To map out the situation of research in the Netherlands well, lung diseases were first of all divided into 12 groups, called the 12 lung diseases fields of research. In each research field, a multidisciplinary team set out to bring about an accurate picture of each research field.

Data collected

All relevant data of all research fields have been collected. This involves the research efforts and output of recent years, the areas with good and bad visibility, the requirement needed for research, a SWOT analysis, the interfaces with other 11 areas of research, the research priorities for the coming years, the conditions for success, the ten most cited publications on the research fields in the previous 5 years, and-not least-the wishes of patients.

12 diseases

Below is an overview of the 12 disease groups. For a detailed description click on the disease or download the PDF containing the complete research report of the pertinent disease.


Allergic diseases are a huge problem worldwide with an increasing prevalence, while its severity increases in parallel.

Allergic diseases are characterized by specific responses to allergens, which result in IgE-associated allergic diseases. These allergic diseases express themselves in the skin, nose and airway tract predominantly but also can lead to gastro-intestinal tract diseases and even anaphylaxis and death. Allergic diseases represent a global health problem which is increasing in prevalence and severity. In some European countries, up to 50% of children have an IgE sensitization in response to a variety of allergens including pollens, mold spores, animal dander, insect stings, foods, and drugs. In the Netherlands estimates of allergy prevalence are even higher with 60% of school-aged children being allergic. An epidemic of IgE-associated allergic diseases has occurred over the past decades in all parts of Europe including the Netherlands. A wide variety of mechanisms are associated with allergic diseases and the underlying pathophysiology involves immunoregulatory dysfunctions. Allergic diseases are complex multifactorial disorders, with both genetic and environmental components. These interactions determine the ultimate disease expression and lead to different and frequently co-existing phenotypes. These interactions are likely to start in utero and during perinatal development, and then induce symptoms  in infancy and childhood Adult allergic phenotypes are largely influenced by these earlier developments.

Dimensions of Allergy in the Netherlands
20-25% of the adult Dutch population has a respiratory allergy, while approximately 60% of all school-aged asthmatic children are allergic. In 2008 at least 1.2 million people used medication for their allergy, based on the number of prescriptions for antihistamines. Between 80-95% of allergic asthma patients have concomitant rhinitis and 30-40% of all allergic rhinitis patients have lower airway symptoms. Patients with allergic rhinitis have a 3-fold higher chance to develop asthma

So far there is no cure for allergic diseases, though patients may outgrow the disease especially with eczema in childhood. Current approaches for better understanding are ongoing, yet prevention of allergy is still not possible. The current management strategy is based on allergen avoidance, next to antihistamines, antileukotrienes and corticosteroids (which broadly act on inflammation). Allergen-specific immunotherapy is a biological response modifier that affects the immune response to allergens in a broad sense. The available pharmacotherapy is overall effective in controlling symptoms and inflammation, but safety concerns are still present (especially for prolonged treatments), and a proportion of patients remains uncontrolled.

Research: strong points and opportunities
Phenotyping and severity diagnosis and biological mechanisms are very strong research areas as well as research on development and ageing. A strong point is the presence of large birth cohorts and patient cohorts in the Netherlands. By maintaining ongoing follow-up and characterization, this is a study asset and an opportunity for future research, in particular given the European collaborative (Horizon 2020) and worldwide opportunities. There are opportunities in translational research too.

Download the PDF containing the complete research report about Allergy


Asthma is a chronic disease that often reveals itself in childhood, but adults can develop the disease as well.

Asthma is a chronic disease, affecting both children and adults. Its prevalence varies widely from 1-10% in eastern and southern European countries to 10-22% in northern and western Europe. Asthma prevalence has steadily increased during the late 20th century and this has levelled off during the past decade. The cause of asthma is unknown and is presumably related to environmental factors, such as virus infections, cigarette smoking or allergen exposure on top of genetic susceptibility. This often occurs in childhood, but the disease can also emerge in adulthood (late-onset asthma). The major burden of the disease is the occurrence of exacerbations and in some patients the progressive worsening of lung function.

The pathogenesis of asthma includes innate and adaptive immunological pathways that are associated with structural and inflammatory changes within the airways. These mechanisms vary between patients and perhaps even within patients during the course of their disease. Therefore, apparently, the episodic chest symptoms and variable airways obstruction of patients with asthma are driven by heterogeneous biological mechanisms, which have led to the recognition of different, clinical-biological asthma phenotypes.

Dimensions of Asthma in the Netherlands
There were 54,000 patients diagnosed with asthma in 2007, slightly more males than females. In 2011, 69 patients died from asthma. Asthma is ranked fourth for loss of Disability-adjusted life years (DALYs), mainly due to exacerbations.

Even though asthma cannot be cured, most patients can adequately be managed by avoidance of triggering factors and treatment with anti-inflammatory and bronchodilator agents. However, a significant minority of patients cannot be controlled by adequate therapy. These patients require targeted treatment, based on extensive assessment of the environmental, clinical and inflammatory factors involved. The step-change in asthma management during the past decade has been the development of individualized treatment regimens by using existing (steroids) or novel drugs (biologicals), based on phenotypic characterization of patients. This has led to a major reduction of exacerbations, including patients with severe asthma. The current challenges in asthma are to predict and to prevent the inception of the disease, to optimize individualized, tailored management by targeted therapy; and to take up the long-term goal to find a cure for asthma.

Research: strong points and opportunities
Areas with good visibility are severe asthma, genetics and pediatric asthma. Phenotyping and severity diagnosis, biological mechanisms and medical therapy are very strong research fields. Opportunities for research are larger cohort studies (epidemiology and genetics). Ageing research is less visible, yet an opportunity.  An important opportunity for the Netherlands is the existence of larger cohort studies from birth onwards or at adult age. They need further follow-up to adult and old age in order to elucidate the origins of disease and to develop novel therapy targets. National and international collaboration is essential in this respect.

Download the PDF containing the complete research report about Asthma

Bronchopulmonale dysplasia (BPD) and primary ciliary dyskinesia (PCD)

These rare diseases are associated with prematurity of genetics

Bronchopulmonary dysplasia (BPD) is one of the most common morbidities in very preterm infants. BPD starts in the neonatal period but its effects can persist long term. The etiology is multifactorial, with prematurity being a prerequisite for the development of BPD in combination with tissue damage due to artificial ventilation, ultimately leading to chronic lung disease in infancy. Premature infants with BPD have a greater incidence of hospitalization, and continue to have a greater respiratory morbidity and need for respiratory medications, compared to those without BPD. Lung function abnormalities, especially small airway abnormalities, often persist. Even in the absence of clinical symptoms, BPD survivors have persistent radiological abnormalities and presence of emphysema has been reported on chest computed tomography scans. Concern regarding their exercise tolerance remains. Long-term effects of BPD are still unknown, but given reports of a more rapid decline in lung function and susceptibility to develop chronic obstructive pulmonary disease phenotype with aging, it is imperative that lung function of survivors of BPD is closely monitored.

Primary ciliary dyskinesia (PCD) is a genetically heterogeneous recessive disorder of motile cilia that leads to oto-sino-pulmonary diseases and situs inversus in approximately 50% of cases. The estimated incidence of PCD is approximately 1 per 15,000 births, but the prevalence of PCD is difficult to determine, primarily because of limitations in diagnostic methods that focus on testing ciliary ultrastructure and function. Patients are characterized by extremely low level of nasal nitric oxide production and multiple PCD-causing genes have been described. The use of these complementary diagnostic approaches shows that at least 30% of patients with PCD have normal ciliary ultrastructure. More accurate identification of patients with PCD has also allowed definition of a strong clinical phenotype, which includes neonatal respiratory distress in >80% of cases, daily nasal congestion and wet cough starting soon after birth, and early development of recurrent/chronic middle-ear and sinus disease. Recent studies, using advanced imaging and pulmonary physiologic assessments, clearly demonstrate early onset of lung disease in PCD, with abnormal air flow mechanics by age 6-8 years that is similar to cystic fibrosis, and age-dependent onset of bronchiectasis.

Dimensions of BPD/PCD in the Netherlands
BPD and PCD are orphan diseases. Therefore, no patients’ facts and figures are available.

Over time, there have been many different and new treatment modalities of BPD, like introduction of surfactant replacement therapy and non-invasive mechanical ventilation. Some of them have reduced the severity of the disease, but none of them have been able to impact upon the increasing incidence of BPD. The treatment of PCD is not standardized, and there are no validated PCD-specific therapies. Most patients with PCD receive suboptimal management, which should include airway clearance, regular surveillance of pulmonary function and respiratory microbiology, and use of antibiotics targeted to pathogens. Concentration of care in a small number of clinical centers should improve diagnosis and management of PCD.

Research: strong points and opportunities
Good clinical collaboration is a strong point in BPD and research on biological mechanisms is very strong in both BPD and PCD. An opportunity is collaboration with basic research. In PCD standardization of diagnostics and better management and raising awareness for the disease are important opportunities.

Download the PDF containing the complete research report about Bronchopulmonale dysplasia (BPD) and primary ciliary dyskinesia (PCD)

Chronic obstructive pulmonary disease (COPD)

This lung disease is closely associated with smoking and many millions of people suffer from COPD worldwide.

Chronic Obstructive Pulmonary Disease (COPD), a largely smoking related disease, affects millions of people worldwide. It is currently the fourth leading cause of death and DALY’s attributable to COPD have increased by 34% from 1990 to 2010 (USA) the second of the top 30 contributing diseases. In the Netherlands, costs for health care are high, in 2007 estimated to 415 million Euros. Given the increasing ageing population, the prevalence of COPD and the necessary care for elderly with COPD will increase and impact on economics will be substantial.  Patients with COPD have a poor quality of life and are hindered by cough and phlegm and dyspnea and particularly so during exercise. For decades, COPD has been characterized by incompletely reversible and usually progressive airways obstruction that is associated with inflammation. Over the past decades it has become clear that COPD is more than only airway obstruction and it is a heterogeneous disease, encompassing chronic bronchitis, small airway disease and emphysema. Moreover, there exist concomitant systemic manifestations and comorbidities such as cardiovascular disease and they have an impact on daily life as well. Flare ups of the disease (exacerbations, or so called lung attacks) are the main reason for hospitalization, and after 5 years only 20% of those hospitalized survive. Genetics and environment play a role in its inception. However, it has become clear that next to smoking, other risk factors of environmental origins are importantly contributing, like e.g. job exposures with pesticides and other inhaled toxic substances.

Dimensions of COPD in the Netherlands
There were 323,619 patients with COPD in 2007, slightly more males than females; 6383 patients died from COPD in 2011. COPD is ranked 6th as cause of death in the Netherlands; 5th as lost years; 7th  as lost DALYs; 25 percent of patients develops severe co-morbidity.

Current management involves inhaled treatment with bronchodilators and in a subset of patients anti-inflammatory treatment in order to prevent symptoms and exacerbations. There is however, no cure for COPD and insights in the exact pathologic risk factors and definite biological pathways that underlie the disease are still lacking. Management of late stage disease constitutes of rehabilitation, lowering morbidity by bronchoscopy interventions like stents in the airways, a field under development, and ultimately lung transplantation.  Currently, changes are upcoming in insights in disease heterogeneity and the consequences for individualized treatment and management. The current challenges in COPD are to optimize treatment in far advanced disease stages and to develop a cure, e.g. possibly by revitalizing lung tissue and novel developments in lung repair techniques.

Research: strong points and opportunities
Phenotyping and severity diagnosis, biological mechanisms and medical therapy are very strong research fields, as well as monitoring. Opportunities can be found in the translational field and in optimal patient coaching and life style interventions (smoking reduction in childhood/young adulthood but also additional environmental factors). Collaboration with leading immunologists and systems biologists (availability of large databases for epidemiological, genetic/epigenetic, and clinical research) are also important research opportunities. Additional opportunities are individualized tailored treatment and management, including attention for comorbidities and possibilities for e-health and telemonitoring.

Download the PDF containing the complete research report about Chronic obstructive pulmonary disease (COPD)

Cystic Fibrosis (CF)

Cystic fibrosis is the highest prevalent genetic disease in western countries.

Cystic Fibrosis (CF) is the most common inheritable disease in Western countries. The disease is caused by a recessive genetic defect of the Cystic Fibrosis Transmembrane Regulator (CFTR) protein. About 1 in 30 people is carrier of this defect, resulting in birth of about 40 new patients per year in the Netherlands. The disease is characterized by disturbance of chloride transport over the epithelial membrane, resulting in secretion of thick and sticky mucus in the respiratory, gastro-intestinal and reproductive tracts. Almost all patients suffer from recurrent and severe lower respiratory tract infections, ultimately leading to respiratory insufficiency and need for lung transplantation in young adulthood. Over 90 percent of all patients have pancreatic insufficiency, asking for life long enzyme replacement therapy, and development of CF related diabetes in the majority of patients. About 30 to 40 percent of patients develop CF related liver cirrhosis and almost all male patients are infertile due to bilateral agenesis of the vasa deferens.

The prognosis of the disease has improved considerably during the last decades, from a mean survival of 15-20 years of patients born in the 50s to an estimated survival of 45-50 years of patients born at present.

Dimensions of CF in the Netherlands
In 2011 there were 1374 patients, 53.5% male and 46.5% female; mean age of the population was 19.2 years; 54.8% of patients has a homozygous mutation for F508del, 7.3% has a non-F508del mutation on both alleles. Mean life expectancy is still limited to 35-40 years

Treatment of patients, by multidisciplinary teams in highly specialized centers, with early and aggressive antibiotic treatment of respiratory infections as well as intensive nutritional and physiotherapeutic support are cornerstones of current therapy. Recently, CF was added to the national heel prick screening program in the Netherlands which will be helpful to further improve the prognosis, facilitating early and preventive therapy. Very recently new small molecules became available interfering with CFTR-gene transcription and posttranscriptional modification of the CFTR protein. The first drug (Ivacaftor) was recently admitted to the market for patients with so-called gating mutations. These new drugs serve as a promise to turn current symptomatic treatment into curative treatment. This new generation of drug will further improve the prognosis of patients, but will also lead to a significant burden of financial costs to society.

Research:  strong points and opportunities
Research on Infection and inflammation in CF is generally good. Development of new targets for treatment and imaging is already a strong point in the Netherlands and can still be further explored. Additional opportunities for research are biological mechanisms, phenotyping and severity diagnosis.

Download the PDF containing the complete research report about Cystic Fibrosis (CF)

Intensive Care (IC)

Patients with respiratory diseases run the risk to be hospitalized at the intensive care for their  necessary treatment in case of respiratory insufficiency.

Patients with COPD, Asthma, Pulmonary Hypertension, Acute respiratory distress syndrome (ARDS) and ILD are at risk for the need of Intensive Care treatment.We therefore refer to the respective disease areas.

Download the PDF containing the complete research report about Intensive Care (IC)

Interstitial lung diseases (ILD)

We call over 100 very different, rare diseases with fibrotic changes in the lung 'interstitial lung diseases' (ILD).

Interstitial lung diseases (ILD) is a group of more than 100 rare disorders characterized by diffuse pathology throughout the lung parenchyma. In the Netherlands the estimated prevalence of ILD is approximately 20,000. Most patients suffer from gradually progressive dyspnea (on exertion), cough and/or fatigue.

Pulmonary fibrosis is one of the most important ILD. It is characterized by replacement of normal lung tissue with scar tissue causing an irreversible decrease in oxygen diffusion capacity. In addition, decreased lung compliance makes pulmonary fibrosis a restrictive lung disorder. Known causes of pulmonary fibrosis are autoimmune diseases, drug toxicity (e.g. amiodarone, nitrofurantoine), and environmental exposure to organic (e.g. minerals such as silica, aluminum, asbestos) and organic dust (e.g. birds, wood, fungi). When no cause can be identified pulmonary fibrosis is called idiopathic. Due to its progressive nature idiopathic pulmonary fibrosis (IPF) is one of the lung diseases with worst prognosis. Its median survival after diagnosis is only 4 years. IPF has a familial background in up to 20% of cases, suggesting a role for mutations.

Sarcoidosis, also called Besnier-Boeck disease, is another ILD most frequently met in clinical practice. Sarcoidosis is characterized by the accumulation of inflammatory cells that can form into nodules (granulomas) in multiple organs. The granulomas are most often located in the lung parenchyma or the lymph nodes, but any organ can be affected. Sarcoidosis is an idiopathic disease. The current hypothesis is that it is caused by an environmental trigger in a genetically susceptible individual with an agitated immune system, in the presence of an adjuvant. Morbidity due to sarcoidosis is high. Many patients not only suffer from pulmonary symptoms, but also from symptoms outside the respiratory system. In addition, chronic fatigue and neuropathy have a high negative impact on quality of life. Mortality of sarcoidosis is approximately 5% and mainly caused by secundary fibrosis of the lung or cardiac involvement.

Besides IPF and sarcoidosis there is a number of ultra rare ILD with incidences of only 1-5 per million inhabitants, but with high disease burden and mortality. Especially worth noting are lymphangioleiomyomatosis (LAM), pulmonary alveolar proteinosis (PAP), pulmonary Langerhans cell histiocytosis (PLCH).

Dimensions of ILD in the Netherlands
It is estimated that 20,000 patients have a form of ILD in the Netherlands. Most common is sarcoidosis with an estimated prevalence of 500 – 800 patients.  Incidence per year is approximately 3000 patients with an average age of 20-40 years. In up to 30% of the patient population the disease is chronic (>2 years) and ultimately 27 patients died in 2010 from sarcoidosis, while secondary cause of death in another 31 patients was sarcoidosis. The prevalence of pulmonary fibrosis is estimated to be 3200, with an incidence of 800-1600 a year. There is strong male predominance and patients are between 40 and 70 years of age.  In 2010 412 patients died from pulmonary fibrosis, while another 98 patients had pulmonary fibrosis as a second cause of death. 

Currently there is no cure for IPF and curative therapy for sarcoidosis does not exist either. Sarcoidosis may be sensitive for anti-inflammatory therapies such as corticosteroids and methotrexate. Recently it was shown that some patients may benefit from anti-TNF-α monoclonal antibody therapy. The only treatment that may prolong life is lung transplantation, which is only available for a minority of patients.

It is clear that diagnosis and management of ILD is complex and should therefore preferably be done by teams of medical professionals working in centers with expertise. It has been shown that this improves quality of care. Organization of centers of excellence for rare diseases is also strongly supported by the European Union and patient societies. In addition, they will provide an ideal place for registration of diagnosis, and collection of clinical data and biobanking. Especially for ILD this is regarded fundamental for advancing the field.

Research: strong points and opportunities
A research area with a good international visibility is clinical research on diagnosis and treatment. Very strong fields of research are implementation and care, and biological (genetic) mechanisms. An important opportunity is research on biological mechanisms with a focus on pulmonary fibrosis, origins of the disease and response to therapy.

Download the PDF containing the complete research report about Interstitial lung diseases (ILD)

Lung cancer and mesothelioma

Lung cancer is the most deadly type of cancer.

Lung cancer is the most deadly type of cancer. The major cause of lung cancer is smoking. However, the number of never smokers with lung cancer is increasing to up to 15% in the Netherlands, and is especially seen in young women with adenocarcinoma. Non-small cell lung cancer accounts for 85% of all lung cancers. The incidence of small cell lung cancer, a highly smoking related cancer, is decreasing and is now 15% of all lung cancers.

Dimensions of lung cancer in the Netherlands
Each year, 11,000 people will receive the diagnosis lung cancer. It is after prostate cancer the most prevalent cancer in males. In 2010, 6,992 males and 4,443 females have been diagnosed with lung cancer. In the past ten years there has been a strong increase in the number of females diagnosed with lung cancer: from 2479 to 4443, an increase of 79%. Lung cancer is the major cause of cancer related deaths. In 2011, there were 10,539 deaths in the Netherlands due to lung cancer: 6585 males, 3954 females. The 5-year survival rate of non-small cell lung cancer is 10 to 15%.  The 5-year survival rate of small cell lung cancer is <5% and not much improvement in outcome has been obtained in the last years.

At presentation, 60% of patients with lung cancer has already metastatic disease and is treated with palliative chemotherapy. Advances in DNA and RNA technologies in the last years made it possible to unravel more and more driver mutations in lung cancer, leading to development of targeted therapy with improved outcome. There are new insights in the treatment of patients with oligometastasis (< 5 metastases) treated with stereotactic radiotherapy and modern systemic treatment (e.g. immunotherapy, targeted drugs etc.). One third of patients present themselves with locally advanced disease. The preferred treatment for these patients is concurrent chemoradiotherapy. This is an intense treatment with a cure rate around 25%. With new imaging modalities and advanced radiotherapy strategies (e.g. decision support –based individualized treatment, dose painting etc.) the cure rate is increasing with a decrease in toxicity. For patients with early stage disease the treatment of choice is surgery or stereotactic radiotherapy followed by adjuvant chemotherapy in selected cases.

Mesothelioma is another important form of thoracic cancer. Mesothelioma is a cancer of the pleural epithelium and caused by asbestos exposure. Asbestos has been prohibited since 1993. However, as mesothelioma develops after 20-25 years of exposure to asbestos, this disease will still be a problem in the Netherlands in the next coming ten years.

Dimensions of mesothelioma in the Netherlands
The incidence of mesothelioma is approximately 500 new cases per year. In 2011, 500 people, 436 males and 64 females, died from mesothelioma.

Cure can seldom be obtained and the only effective treatment until now is palliative chemotherapy. There are some new therapeutic possibilities with Arc radiotherapy of the pleura.

Research: strong points and opportunities
Medical therapy and Implementation and care are strong points in thoracic cancer. Opportunities are prevention and screening, research on rare mutations and Immunotherapy.

Download the PDF containing the complete research report about Lung cancer and mesothelioma

Lung transplantation

In case of a terminal lung disease, lung transplantation is often the sole treatment option that remains.

Lung transplantation is a widely accepted ultimate (and only remaining) therapy for many endstage severe lung diseases. Lung transplantation currently can be single-sided or double-sided and in rare cases is combined with cardiac transplantation. Most frequent indications in adults are severe COPD, cystic fibrosis, IPF and pulmonary hypertension. In children most indications are cystic fibrosis and persistent pulmonary hypertension. In recent years progress is seen particularly with respect to further refinement of immune suppressing drugs, which have to be taken lifelong after lung transplantation. More recently scientific research also showed important developments in management and preservation of donor lungs. Compared to other organs, for example liver and kidney, relatively more problems are observed regarding chronic rejection, (obliterative bronchiolitis). In particular due to ongoing scientific research the above-mentioned improved drugs have become available to adequately suppress part of immune system with fewer complications of for instance infections. In addition, increased knowledge regarding optimal preparation of donor lungs now gives a perspective that in the (near) future more of the still scarce donor lungs are suitable and in better condition to be transplanted .

Dimensions of Lung transplantation in the Netherlands
On an annual basis, approximately 50 lung transplantations take place in the Netherlands.

Research: strong points and opportunities
A research area with a good international visibility is monitoring of clinical outcomes after lung transplantation. An important opportunity is collaboration with other solid organ transplant programs in post-transplant complications. The availability of diagnostic biomarkers by participating in national and international studies is an additional opportunity.

Download the PDF containing the complete research report about Lung transplantation

Respiratory infections

According to the World Health Organisation, lower respiratory tract infections rank at the third place of the mortality list worldwide, and at the first place in low income countries.

Respiratory tract infections are usually classified as upper respiratory tract infections such as the common cold, or lower respiratory tract infections such as bronchitis, pneumonia and tuberculosis. According to the WHO, lower respiratory tract infections are the third leading cause of death worldwide, and the number one leading cause of death in low-income countries. World-wide 1.5 million people died from tuberculosis. Moreover, worldwide tuberculosis is still a life-threatening disease and is not eradicated, even not in the Netherlands. Furthermore, respiratory infections play a major role in the induction or severity of a variety of chronic lung diseases, including asthma, COPD and cystic fibrosis. Respiratory infections are also frequently a topic of media attention, especially related to the increased resistance of bacteria to conventional antibiotics, and emerging infectious diseases such as severe acute respiratory syndrome (SARS) and the 2009 pandemic H1N1 influenza.

Dimensions of Respiratory Infections in the Netherlands
The incidence of community-acquired pneumonia (CAP) is 10.3 per 1,000 males and 10.8 per 1,000 females per year based on registration by General Practitioners (2007). The incidence increases with age. Approximately 90% of all deaths are patients of ≥ 65 years of age. In 2011, a total of 4999 patients died from community-acquired pneumonia and 1076 new cases with tuberculosis were registered. Mortality from tuberculosis in the Netherlands is relatively low. Antibiotic resistance in the Netherlands is far lower compared to South European countries.

Novel methods using molecular biology approaches to detect micro-organisms have revealed that the lungs are not sterile, but contain microbial communities also in healthy subjects. Characterization of the lung microbiome in healthy subjects and patients with asthma, COPD and cystic fibrosis has revealed interesting differences and is likely to contribute to our insight into the pathogenesis of these diseases. 

Research: strong points and opportunities
Topics that are on top in Europe and worldwide are Epidemiology and Control of infections, including huge clinical trials. Medical therapy is also a strong point. Prevention is a very strong point and an opportunity of a very high relevance, because infection is not only a primary but also a secondary prevention problem in many lung diseases. A really different area not involved in the other roadmaps is Microbiology where main collaborations occur. This field is booming, especially in prevention (microbiome analysis) and therefore a great opportunity.

Download the PDF containing the complete research report about Respiratory infections

Pulmonary arterial hypertension (PAH)

It is difficult to make a diagnosis of PAH, since it is a very rare disease, and the symptoms may mimic those of asthma.

Pulmonary arterial hypertension is defined by a high blood pressure in the pulmonary arterial system which leads to incompatibility between pulmonary ventilation and the available circulation. A distinction is made between primary and secondary hypertension. Primary pulmonary arterial hypertension, presently mostly called idiopathic pulmonary arterial hypertension (IPAH), is defined based on clinical history, epidemiology and pathology. IPAH is most observed in young females, but nevertheless can occur at any age in either gender. In a limited number of cases familiar (so inheritable) forms of idiopathic pulmonary hypertension are known. Secondary pulmonary hypertension may occur as a consequence or in due course of many diseases and also secondary to cardiac problems, the latter mostly in infants. Pulmonary arterial hypertension is also observed in different autoimmune diseases and may also occur combined with liver disease, in such case called portopulmonary hypertension. Also associations are known with use of drugs, in particular dietary drugs. A special form of pulmonary hypertension is due to venous obstruction, occurring in an idiopathic form (pulmonary veno-occlusive disease, PVOD) or associated with left sided obstructive cardiac problems.

Dimensions of pulmonary hypertension in the Netherlands
In 2012, the prevalence of pulmonary arterial hypertension (PAH) was 500, i.e. 29 per 1 million inhabitants. The incidence is about 36 per year, or 2.2 per 1 million inhabitants, and is slightly increasing due to increased recognition and improved survival. In 2009, there were 268 registered PAH patients, 209 females and 59 males, 41% of patients was aged 41-60 and 36% was aged 61-80 years.

Whereas in recent years some relief can be obtained by use of specific drugs, in general the prognosis remains still quite cumbersome and several patients with this rare condition are in need of a lung transplantation in due time as an ultimate form of therapy.

Research: strong points and opportunities
Very strong research areas and opportunities for further research are phenotyping and severity diagnosis (imaging techniques), disease diagnosis and monitoring, and medical therapy. Translational studies exploring pathobiological mechanisms are an additional opportunity.

Download the PDF containing the complete research report about Pulmonary arterial hypertension (PAH)


Sleepapnea is an increasing problem worldwide. It is anticipated that his disease will become a huge burden for our society with respect to health care time consumption and costs.

Sleep disordered breathing, including Obstructive Sleep Apnea Syndrome (OSAS) and Central Sleep Apnea (CSA), is an increasing problem all over the world. Especially OSAS is becoming a huge burden to the health system by affecting 4% of middle-aged men and 2% of women. OSAS is characterized by disruptive snoring and repetitive upper airway collapse during sleep, resulting in a complete (apnea) or partial (hypopnea) obstruction in airflow and reduced oxygen saturation levels. The increased respiratory effort to restore oxygen levels result in activation of the sympathetic nervous system, brief awakenings from sleep, leading to sleep fragmentation and excessive daytime sleepiness. In addition, in patients with severe OSAS there is even evidence that it will lead to serious cardiovascular events. More knowledge about both diagnosis and treatment in this field is urgently needed.  

Dimensions of Sleep Apnea in the Netherlands
Prevalence of OSAS in the Netherlands is probably around 2-3 % of the entire population. A recent study under employees of Philips shows even >6%. Based on the Philips data, the latest estimations are 500,000 patients with OSAS in the Netherlands. Since only around 70,000 patients with OSAS have been diagnosed currently in the Netherlands there is a large underdiagnosis according to the general prevalence.

Currently different treatment options are available in patients with OSAS. Nevertheless there is no convincing evidence which treatment should be provided to which patient. While Continuous Positive Airway Pressure (CPAP) and Mandibular Repositioning Appliance (MRA) are more established treatment options, positional therapy and neuromodulation are promising new therapies.

Research: strong points and opportunities
A strong research area with good visibility is therapy, both medical and non-medical. An opportunity in this respect is the existence of a large number of untreated patients. Upper airway surgery is a strong point. An opportunity is anatomical reconstruction which is an innovative approach for sleep apnoea.

Download the PDF containing the complete research report about Sleepapnea

On the road to the science of tomorrow!