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Orphan lung diseases in childhood: still unadopted?
  1. A Jaffé
  1. Correspondence to:
    Dr A Jaffé
    Portex Respiratory Medicine Group, Great Ormond Street Hospital for Children NHS Trust and Institute of Child Health, Great Ormond Street, London WC1N 3JH, UK;

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Despite recent initiatives, the UK is failing adequately to address the inequities in healthcare provision for children with rare lung disease

Money drives research—whether it is for profit by drug companies or for academic status by universities. It is therefore not surprising that little has been done in the past for patients with rare lung diseases, where there is little financial incentive for drug companies or the small population does not merit sufficient grant funding for adequately powered clinical studies. This problem is further compounded in children where research is perceived to be even more difficult. Over the recent years, largely due to extensive lobbying from independent patient support groups, there has been a concerted effort by the European Parliament and the USA government to address these inequities.

The French originally coined the term “orphan” disease, now defined as a disease with a prevalence of less than 5 in 10 000 individuals, and they have been instrumental in addressing the many problems faced by patients suffering from these diseases. It is estimated that there are 7000 rare diseases affecting 27 million people in Europe and a further 27 million in North America. The adoption of recent laws such as the loi sur l’égalité des droits et des chances, la participation et la citoyenneté des personnes handicapées (law on equality of rights and opportunities, the participation and the citizenship of the handicapped) by the French Parliament makes specific reference to rare diseases. In addition, European Parliament legislation in 1999 on orphan drug development provides access to treatments for patients with rare diseases and encourages industry to develop new treatments by providing financial inducements. Similar legislation has been in place in the USA since the 1983 Orphan Drug Act. In the USA the Rare Disorders Act of 2002 formally established a statutory authorisation for the Office of Rare Disorders (ORD) at the National Institutes of Health (NIH), which had been in existence since 1993, and increased substantial investment into national collaborative research for patients with orphan lung diseases. This act has allowed the ORD to play an increasing role in governing the research agenda at NIH.

These recent political developments have largely been in response to lobbying by various independent patient organisations which have been instrumental in pushing rare diseases up the governments’ agenda. The European Organisation for Rare Diseases (funded by the European Union) and Contact a Family (an independent UK charity) are patient driven alliances aimed at educating both the public and healthcare professionals and providing support for families. Individual charities such as the Cystic Fibrosis Trust and Lymphangioleiomyomatosis (LAM) Action, originally set up as family support networks, are examples of successful charities which set clinical standards, provide education and information and patient support, as well as driving research into a particular disease.1 A further example of how these alliances have affected political change is the development of the French National Plan which specifically praises the French Muscular Dystrophy Association for raising awareness (

The French National Plan for rare diseases (2005–8) represents an excellent framework for addressing the problems associated with rare lung diseases. Their objectives centre around the following strategic priorities:

  • to increase knowledge of the epidemiology of the diseases;

  • to recognise the specificity of these diseases;

  • to develop information for patients, health professionals and the general public;

  • to train health professionals in identifying rare diseases;

  • to organise screening and access diagnostic tests;

  • to improve access to treatment and inequality of patient care;

  • to support orphan drug development;

  • to respond to the specific needs of patients suffering from rare diseases; and

  • to promote research and develop national and European partnerships.

So what implications do the above strategies have specifically for children with orphan lung disease? In recent years various surveillance methods have been employed to gather information on these diseases. One such approach is to gather information on a specific rare disease. A national survey conducted in the UK and Ireland on interstitial lung disease (ILD) in children2 subsequently led to the development of an ERS Taskforce Statement.3 A similar initiative for obliterative bronchiolitis is currently being carried out in the UK coordinated from Newcastle. The GIS-Institut des Maladies Rares is currently sponsoring the establishment of a European Registry with the objective of collecting clinical data on people with congenital central hypoventilation syndrome. Initial work confined to France has provided important epidemiological data on the disease,4 and the result of case collection has led to a greater understanding of the genetic contribution to the disease.5 One ambitious approach is that undertaken by the Children’s Interstitial Lung Disease Research Network (ChILD) in the USA. The aim is to gather clinical cases to increase understanding of the pathophysiology, genetics and clinical phenotype of these conditions. It is envisaged that a consensus document will be produced on the diagnosis and evaluation of the young child with ILD. ChILD is funded by the American Thoracic Society through their Assembly Project Grants, and is part of the Rare Lung Disease Clinical Research Network which is being set up in Cincinatti Children’s Hospital Medical Centre following an award of $5.5 million from the NIH. In addition to the establishment of the clinical research network, parents of children with ILD have established a foundation (the ChILD Foundation). The ChILD Foundation website contains useful information on ILD and a discussion forum enabling the exchange of information between parents who often feel isolated.

Another approach to gathering information on rare disorders has been to use a monthly reporting system for a variety of diseases. The British Paediatric Surveillance Unit, established in 1986, has been a pioneer in developing reporting systems aimed at identifying the prevalence and incidence of rare childhood diseases. This model has been adopted throughout the world, and recently provided epidemiological data on children with non-CF bronchiectasis in New Zealand.6 The adult British Orphan Lung Disease project (BOLD), a British Thoracic Society initiative, is based on a similar monthly reporting system aimed at gathering information on rare adult lung diseases. At the beginning of 2005 the British Paediatric Orphan Lung Disease (BPOLD) registry was launched, modelled largely on BOLD but using a fully electronic reporting system. The aim of this registry is to gather cases of nine paediatric orphan lung diseases. Paediatricians with an interest in respiratory medicine are e-mailed monthly reminders to submit new cases or declare “nothing to report” to a web based repository. In addition to containing medical information on the specific orphan lung diseases, the website has a discussion forum allowing parents and families to exchange information. This project was made possible through funding from a charitable trust and the British Paediatric Respiratory Society. It is hoped that it will be a useful resource for future investigators wanting to carry out research into these specific diseases.

Clearly the internet has become important in raising awareness, gathering epidemiological data, and educating the professional and lay public. Again, the French have led the way. Orphanet is a multilingual internet based information server created in 1997 and aims to be the reference portal in Europe for access to all information on rare diseases. Orphanet UK, funded by the European Commission, is run by the North West Genetics Knowledge Park in Manchester and links in directly to Orphanet. Orphanet UK is collecting data related to rare diseases in the areas of laboratory diagnostics, specialised outpatient services, research projects, clinical trials, support groups, professional networks, and national registries. Another electronic initiative in the UK is the National Electronic Library of Health funded by the National Health System. The aim is to provide clinicians with access to the best current knowledge to support health care related decisions which will hopefully be integrated into future electronic patient records. An electronic specialist respiratory library was launched in 2004 and a library specific for rare diseases is currently under construction. Useful web links for rare diseases are listed in tables 1 and 2.

Table 1

 Web links for general rare diseases

Table 2

 Web links specifically for rare lung diseases

It is clear from the above discussion that there is an increasing awareness of recognising the importance of rare lung diseases and various countries have instituted initiatives to address these problems. Despite some advances in the UK, there is an urgent need for a unified approach at a national level to address the inequity of healthcare provision which exists for patients with rare disorders. The Department of Health has hinted at the importance of addressing rare disorders in the National Service Framework (NSF) for disabled children and young people with complex health needs.7 This NSF specifically highlights the need for health and local systems to plan for identifying and meeting the needs of children with low incidence and rare conditions. In addition, the Genetics white paper published by the government in 2003 also addresses some of the issues of rare disorders, but only from a genetics perspective.8 However, there remains an urgent need for the government specifically to address the issues of rare diseases in the UK, similar to that outlined in the French National Plan. We in the UK may have been successful in winning the right to stage the Olympics, but when it comes to rare lung diseases it is the French who deserve the gold medal.


BPOLD is funded by the Cohen-Zimbler Family Trust and the British Paediatric Respiratory Society. I would like to thank Richard Lynn of BPSU, Diane Barnett of Contact a Family, and Emma Gillaspy, Orphanet UK for their help in preparing this manuscript.

Despite recent initiatives, the UK is failing adequately to address the inequities in healthcare provision for children with rare lung disease


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  • Adam Jaffé is chairman of the British Paediatric Orphan Lung Disease Registry Committee

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