Every Friday, we like to list the 5 most popular stories of the week. This week, news from the FDA dominated with 2 approvals given by the agency as well as a breakthrough designation. Also hot this week was gene therapy and better screening of AATD patients. For these and other news stories, go to www.RareDR.com
The FDA also approved a higher dose of Orfadin (nitisinone; 20 mg) for the treatment of Hereditary Tyrosinemia type-1 (HT-1).
Patients with eosinophilic esophagitis may have persistent or relapsing symptoms related to esophageal dysfunction, which include dysphagia (difficulty swallowing) and food impaction.
The FDA has approved an expanded label for Glassia [Alpha-1 Proteinase Inhibitor (Human)], so that adult patients with emphysema due to severe alpha-1 antitrypsin (AAT) deficiency can now self-infuse the orphan drug at home.
As of 6 months following gene therapy, all patients saw improvements in their disease phenotype and achieved sustained increases in FIX activity.
Results of a recent study published in Orphanet Journal of Rare Diseases suggest that targeted screening programs can successfully increase the rates of diagnosis for the genetic disease alpha-1-antitrypsin deficiency (AATD).