The French registry of pulmonary arterial hypertension in children: rationale and design

ABSTRACT Background: Pulmonary arterial hypertension (PAH) is an orphan disease with a poor prognosis. Recent significant medical advances include the availability of PAH-targeted therapies as well as the publication of international guidelines and of a treatment algorithm. Epidemiology data relative to PAH are scarce, especially in the paediatric population. Based on the recent experience of a French PAH registry in the adult population, we set up the project to establish a similar registry dedicated to paediatric PAH in France. Methods: This multicentre, prospective, epidemiological and non-interventional study consists of a transversal phase (1‐year enrolment) and a longitudinal phase (2‐year follow-up). Patients < 18 years old followed in the investigational centres for PAH, and for whom data from right heart catheterization or Doppler echocardiography at the time of diagnosis are available, are eligible. All forms of PAH may be enrolled, except for persistent pulmonary hypertension of the newborn and where congenital heart diseases are the cause of PAH. Conclusion: The objectives of the study are to determine the prevalence and incidence of PAH in children and to describe the characteristics, the survival in the current era and the management of paediatric PAH, paying special attention to the quality of life and impact of PAH on social and schooling activities. Recruitment for the transversal phase started in May 2005, in 21 cardiopaediatric centres that represent the majority of large University Hospitals in France, with a widespread geographical distribution. This registry will provide crucial information on PAH in children in the era of PAH-targeted therapies. It may help in identifying areas of improvement for optimal support to patients.