The problems of clinical trials and registries in rare diseases.
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.
Luisetti
Maurizio
M
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
Campo
Ilaria
I
Scabini
Roberta
R
Zorzetto
Michele
M
Kadija
Zamir
Z
Mariani
Francesca
F
Ferrarotti
Ilaria
I
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*