NIH Research Contributed to First FDA-Approved Treatment for Progeria
Photo: GeneReviews, University of Washington
Nearly two decades of NIH research helped lead to the first FDA-approved treatment for progeria, a rare and fatal pediatric disease, characterized by dramatic, rapid aging beginning in childhood.
The new treatment was made possible thanks in part to the work of NHGRI researchers, led by NIH director and NHGRI senior investigator Dr. Francis Collins, who identified and characterized the function of the mutant gene and the protein it encodes, called progerin.
The drug Zokinvy (lonafarnib), approved for use in patients 1 year of age and older, helps prevent the buildup of defective progerin.
Before the Nov. 20 approval of this drug, the only treatment options for progeria were supportive care and treating complications arising from the disease.
Progeria, also known as Hutchinson-Gilford progeria syndrome, is caused by a genetic mutation in the LMNA (“lamin A”) gene, which helps maintain the normal structure and function of a cell’s nucleus.
About 400 children worldwide have been diagnosed with this disease.