Until My Son Calls Me Dad: Quest to Find a Treatment for Ultra-Rare Disease

J Clin Pharmacol. 2022 Dec:62 Suppl 2:S12-S14. doi: 10.1002/jcph.2154.

Abstract

Rare diseases are affecting 400 million patients worldwide, with 95% of them suffering without treatments. In this article, I make a plea, as a parent of a rare disease kid, and as a drug developer, to turn the attention of pharmacologists to such rare and devastating diseases.

Keywords: clinical trial; rare disease; translational; treatments.

MeSH terms

  • Humans
  • Nuclear Family*
  • Rare Diseases* / drug therapy