title: The problems of clinical trials and registries in rare diseases.
abstract: Clinical trials to evaluate patients affected by rare diseases are often hampered by the difficulty of recruiting a critical sample size. Registries for rare conditions are thus extremely powerful tools for overcoming recruitment problems. Here we present and discuss the international experience with alpha1-antitrypsin deficiency achieved by the Alpha One International Registry, and national experience obtained with a large series of patients with pulmonary alveolar proteinosis.
authors.affiliation: Clinica di Malattie dell'Apparato Respiratorio, Fondazione IRCCS Policlinico San Matteo, Università di Pavia, Via Golgi 19, 27100 Pavia, Italy. m.luisetti@smatteo.pv.it
authors.forename: Maurizio
authors.initials: M
authors.lastname: Luisetti
authors.forename: Ilaria
authors.initials: I
authors.lastname: Campo
authors.forename: Roberta
authors.initials: R
authors.lastname: Scabini
authors.forename: Michele
authors.initials: M
authors.lastname: Zorzetto
authors.forename: Zamir
authors.initials: Z
authors.lastname: Kadija
authors.forename: Francesca
authors.initials: F
authors.lastname: Mariani
authors.forename: Ilaria
authors.initials: I
authors.lastname: Ferrarotti
mesh_terms: D002986:Clinical Trials as Topic; D006801:Humans; D007391:International Cooperation; D018579:Patient Selection; D011649:Pulmonary Alveolar Proteinosis / Q000175:diagnosis*; D035583:Rare Diseases / Q000175:diagnosis*; D012042:Registries / Q000706:statistics & numerical data*; D019896:alpha 1-Antitrypsin Deficiency / Q000175:diagnosis*