Progeria (HGPS) is an extremely rare and fatal genetic disorder that results in premature aging and death. The worldwide prevalence of HGPS is approximately 1 in 20 million. Progeria is an autosomal dominant disorder caused by the mutation in the lamin A (LMNA) gene that leads to poor growth (in terms of height and weight), loss of hair, stiff joints, thin and weak bones, wrinkled skin, large head size, certain dental abnormalities, and an abnormal face (with prominent eyes and beaked nose).
According to NORD, HGPS affects males and females equally, and also all races have equal chances to get affected by it. There is no particular risk factor for progeria; however, if the parents have one child with progeria, there is a 2 to 3 percent higher chance for a second child with the same conditions.
Recently, Eiger BioPharmaceuticals, in a very first, brought Zokinvy (lonafarnib) as the first treatment for Hutchinson Gilford Progeria Syndrome (Progeria). The approval would benefit patients living with one of the most ultra-rare, and ultimately fatal, pediatric diseases. Several other companies are also actively working in the domain, including PRG Science and Technology, Merck, among others. In the coming years, increased awareness about Progeria’s unique histology (or gene mutation studies) and the launch of emerging therapies are expected to significantly improve the lives of people affected by this rare disease.
For more details, visit: Progeria Prevalence and Treatment Options