Extending life: The fight against Progeria

Bryan Justine Dela Cruz ||

The U.S. FDA approves the first-ever drug treatment, Zokinvy, for the rapid-aging disease Progeria.

On November 20, 2020, Progeria Research Foundation partnered with Eiger BioPharmaceuticals (Eiger) announced that Zokinvy, or medically known as Lonafarnib, is approved by the U.S. Food and Drug Administration, a milestone in the field of medicine.

“Shortly after our son Sam was diagnosed with Progeria, my family and I founded The Progeria Research Foundation to find the cause, treatments, and cure for all children with this fatal disease. This first approved medication is a truly extraordinary milestone for the Progeria community as we forge ahead toward the cure,” said Leslie Gordon, MD, PhD, PRF Medical Director, and Zokinvy Clinical Trial Investigator.

In the year 1999, Sam Gordon Berns was diagnosed with Progeria, at that time the disease was genetically unknown and there was no treatment. 6 months later, his parents, Dr. Leslie Gordon and Dr. Scott Berns, and aunt, Audrey Gordon, founded the Progeria Research Foundation (PRF).

In 2003, the PRF helped discover the gene mutation that causes Progeria and developed a diagnostic kit, which paved the way for the development of a treatment for the disease.

Zokinvy, a treatment that extends the lives of people diagnosed with Progeria, slows the pace of the disease by blocking the accumulation of defective, farnesylated proteins which form tight associations with the nuclear envelope, leading to the cellular instability and the process of premature aging in people with Progeria.

“This is not a cure,” cautions Monica Kleinman, a pediatric critical care doctor at Boston Children’s Hospital involved with the clinical trials. “We’ve hopefully extended the life span that [the children] have by slowing the pace of the disease,” but, she says, this doesn’t give kids a normal length of life.

The results of the clinical trials showed that the use of Zokinvy for three years increased the life span of children for about three months compared to other kids who did not take the drug. While children who received the drug for up to 11 years had their life extended by about two and a half years.

A single mutation of the gene, lamin A (LMNA), is responsible for the development of Progeria in children; consequently, promoting an abnormal form of protein Progerin, which causes instability in the nuclei and leads to a rapid aging process.

Hutchinson-Gilford Progeria Syndrome, or Progeria for short, is an ultra-rare, progressive genetic disorder that causes children to age rapidly.

People diagnosed with this disease often die of heart failure, heart attack or stroke even before they reach the age of 15.

“Today we celebrate the incredible milestone of an approved treatment for Progeria, and tomorrow we will press on until we have achieved our vision of a world in which every child with Progeria is cured.” said Sam’s father Scott D. Berns, MD, MPH, FAAP, Co-Founder and Chairman of the Board, The Progeria Research Foundation.

The PRF together with Eiger will continue to pursue their goal of finding a cure for Progeria.

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