Parents of children who have received a diagnosis of Hutchinson-Gilford progeria syndrome (HGPS) may be relieved to learn the FDA recently approved Zokinvy capsules that were developed to lower the risk of death due to the disease. The drug targets processing-deficient progeroid laminopathies in patients older than one year.
Information pertaining to the approval was provided by Dr. Hylton V. Joffe, Director at the Office of Rare Diseases, on behalf of the FDA. PR Newswire carried the story.
Dr. Joffe described the rare genetic disease as causing premature aging resulting in death from heart attacks or stroke usually before the age of fifteen. Cardiovascular diseases occur due to an accumulation of defective progerin in cells.
HGPS is characterized by hair loss or greying hair, small stature, wrinkled skin, and various other signs of aging very early in life.
According to Dr. Joffe, Zokinvy is currently the only drug that has been approved by the FDA to treat these diseases. The doctor noted that until the recent approval, treatment was confined to supportive care or complications of the disease.
About Hutchinson-Gilford Progeria Syndrome
Hutchinson-Gilford progeria syndrome (HGPS) is caused by mutations (alterations) in the LMNA gene which sends out instructions to make the lamin A protein. HGPS is one of the most severe laminopathies. It is affected by the expression of progerin.
Learn more about this disorder here.
About Zokinvy
Zokinvy, an FTI (farnesyltransferase inhibitor) oral medication developed by Eiger BioPharmaceuticals, restricts the accumulation of defective progerin-like protein or progerin.
Progerin build-up has been found to cause disruption to nuclear structure and increases cell self-destruction (apoptosis). It had been previously reported that the distribution of some nucleolar proteins is affected in progeria cells.
A major breakthrough occurred in HGPS with the discovery that many cellular defects can be restored by treatment with FTIs and that nucleolar antigen localization in treated progeria cells can be completely restored.
About the Trials
Two clinical trials demonstrated Zokinvy’s effectiveness by comparing a total of sixty-two patients against untreated patients who had participated in a separate study.
The lifespan of the HGPS group who had been treated with Zokinvy at the three-year mark showed an increase of three months when compared to the group of untreated patients. The maximum Zokinvy follow-up of eleven years found an increase of two and one-half years.
Common side effects of Zokinvy were diarrhea, nausea, infection, vomiting fatigue, and decreased appetite.
Certain patients who received treatment exhibited changes in potassium and blood sodium levels, an increase in liver blood tests, and reduced white blood cell count. These results suggest patients should be tested periodically.
Animal models exhibited eye toxicity. Therefore, periodic eye exams are also suggested to detect any new changes to vision.
Other FDA Designations
The Zokinvy application was granted the FDA’s Priority Review and Breakthrough designations. Orphan Drug designation was also granted. This designation is granted to give companies an incentive to develop medicine for rare diseases.
Additionally, Eiger Bio received a rare pediatric disease priority review voucher which encourages the development of drugs to treat rare diseases in children.
