The problems of clinical trials and registries in rare diseases

Respir Med. 2010 Jul;104 Suppl 1:S42-4. doi: 10.1016/j.rmed.2010.03.016. Epub 2010 Apr 21.


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.

MeSH terms

  • Clinical Trials as Topic
  • Humans
  • International Cooperation
  • Patient Selection
  • Pulmonary Alveolar Proteinosis / diagnosis*
  • Rare Diseases / diagnosis*
  • Registries / statistics & numerical data*
  • alpha 1-Antitrypsin Deficiency / diagnosis*