RARE Daily

FDA Approves First Treatment for Rare Aging Syndrome

November 23, 2020

Rare Daily Staff

The U.S. Food and Drug Administration approved Eiger Pharmaceuticals’ Zokinvy capsules to reduce the risk of death due to the ultra-rare condition Hutchinson-Gilford progeria syndrome and for the treatment of certain processing-deficient progeroid laminopathies in patients one year of age and older.

Zokinvy is not approved for use in patients with other progeroid syndromes or laminopathies.

Progeria, also known as Hutchinson–Gilford progeria syndrome (HGPS), and progeroid laminopathies (PL) are separate and distinct ultra-rare, fatal, genetic premature aging diseases that accelerate mortality in young patients.

Progeria and progeroid laminopathies (PL) are separate and distinct ultra-rare, genetic, premature aging diseases that accelerate mortality in young patients.  Progeria is caused by a point mutation in the LMNA gene, yielding the farnesylated aberrant protein, progerin. PL are genetic conditions of accelerated aging caused by a constellation of mutations in the LMNA and/or Zmpste24 genes yielding farnesylated proteins that are distinct from progerin. While non–progerin producing, these genetic mutations result in disease manifestations with phenotypes, which have overlap with, but are distinct from, progeria.

Untreated children with progeria die of heart disease at an average age of 14.5 years. It is estimated that there are 400 children worldwide with progeria and 200 children with PL.  Of these patients, approximately 180 children and young adults have been identified, including 20 in the U.S. and 23 in Europe. Until now, the only treatment options included supportive care and therapies directed towards the complications arising from the disease.

Zokinvy (lonafarnib) is a disease-modifying agent that has demonstrated a statistically significant survival benefit in children and young adults with Progeria.  In patients with Progeria, Zokinvy reduced the incidence of mortality by 60 percent and increased average survival time by 2.5 years.  The most commonly reported adverse reactions were gastrointestinal (vomiting, diarrhea, nausea), and most were mild or moderate in severity.  Many Progeria patients have received continuous Zokinvy therapy for more than 10 years.

The increase in survival observed with Zokinvy was derived from two open-label clinical trials of 62 patients conducted at Boston Children’s Hospital.  The survival analysis compared Zokinvy-treated versus Zokinvy-naïve subjects with progeria born in or after 1991, by age, gender, and geographic location. Zokinvy-naïve patients originated from a separate natural history study of 81 affected children conducted by The Progeria Research Foundation.

“The FDA approval of Zokinvy is the result of a pioneering partnership between Eiger BioPharmaceuticals and the Progeria Research Foundation to bring the first approved therapy to children, young adults and families living with this devastating disease,” said David Cory, president and CEO of Eiger.  “We are very proud that the first drug approval at Eiger confers a survival benefit to patients with one of the most ultra-rare, and ultimately fatal, pediatric diseases.” 

With this approval, the FDA issued a Rare Pediatric Disease Priority Review Voucher (PRV) to Eiger. The Rare Pediatric Disease Priority Review Voucher program is designed to encourage development of new drugs and biologics for the prevention or treatment of rare pediatric diseases.  Eiger plans to sell the PRV and will share the proceeds equally with the Progeria Research Foundation under the terms of their collaboration agreement.

Following the approval, Eiger reported that it had entered into an agreement to sell its PRV for $95 million, which it will split with the Progeria Research Foundation.

“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,” said PRF Medical Director, Leslie Gordon. “This first approved medication is a truly incredible milestone for the Progeria community as we forge ahead toward finding the cure.” 

Photo: PRF Medical Director, Leslie Gordon with her son Sam and husband Scott Berns

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