Newborns are like a blessing for their parents. It turns out to be a nightmare to know if that newborn is diseased or is abnormal in any way. One of such petrifying disease is Progeria which is also known as Hutchinson-Gilford syndrome or commonly known as Benjamin Button disease.
According to the data provided by the PRF- Progeria Research Foundation, around 350-400 children are living with this disease worldwide apparently and around 200 children go undiagnosed.
The U.S. FDA has now approved a drug: Zokinvy (lonafarnib) capsules for reducing the risk of possible death of newborns due to Hutchinson-Gilford Syndrome. It is evident that patients who have Progeria often die with a stroke or cardiovascular ailment. After detailed study, it was found that the defective Progerin accumulates in the cells. The Zokinvy (lonafarnib) is a farnesyltransferase Inhibitor, which will prevent the accumulation of progerin in the cells. This will ultimately reduce the risk of cardiovascular ailment and death. It was tested on around 62 patients and cumulative analysis revealed that the average lifespan of patients was increased about 2.5 years if 11 years of continuous uptake of Zokinvy was followed. Researchers from Boston Children’s Hospital and Brown University; have also tracked around 250 patients with increased lifespan due to treatment with Zokinvy.
The disease affects the aging process of diseased individual. It is a rare genetic condition, with a mutation in the LMNA gene. The mutation causes a protein progerin to be produced which breaks down the cells. This causes aging related complication by the newborn. The children suffering from this disease have normal intellect of a newborn, but their skin looks aged, hair loss and size of the head is disproportionately large from the face. Other conditions like joint stiffness, dislocations, progressive cardiovascular disorders, & hardening of arteries. All this results in early death at around the age of 13/14.
The protein Lamin A also called as Progerin is produced as a result of expression of the LMNA gene, which is responsible for proper nucleus scaffolding. The altered or mutated protein Lamin A cannot form such a scaffold around the nucleus which results in damage of the nucleus and nucleic acids and this ultimately kills the cells prematurely. There wasn’t any cure for this disease before but, the PRF- Progeria Research Foundation: Non-Profit organization, has now come to a solution and first possible treatment for the disease progeria.
“Hutchinson-Gilford progeria syndrome and progeroid laminopathies are rare genetic diseases that cause premature aging and death and have a debilitating effect on people’s lives. With today’s approval, Zokinvy is the first FDA-approved medication for these devastating diseases. The FDA will continue to work with stakeholders to advance the development of additional new, effective and safe therapies for these patients.” said Hylton V. Joffe, M.D., M.M.Sc, director of the Office of Rare Diseases, Pediatrics, Urologic and Reproductive Medicine in the FDA’s Center for Drug Evaluation and Research in the FDA news release.
The drug is contraindicated for co-administration with strong or moderate CYP3A inhibitors and inducers, as well as midazolam and certain cholesterol-lowering medications. Routine blood laboratory testing is requested by physicians.
The drug received the Orphan Drug designation under rare disease development to Eiger BioPharmaceuticals, Inc. The application was reviewed under Priority Review designation with rare pediatric disease priority review voucher.
Zokinvy has some side effects that cause nausea, diarrhoea, Vomiting, increased appetite, & fatigue. The drug is supposed to be administered with strong or moderate doses of CYP3A inhibitors and inducers, also midazolam and certain cholesterol-lowering medications.
The parents of diseased children can now be relieved for a while due to this innovation. Although, this treatment does not make the individual disease-free, and the child will face fatality.