Bollywood Movie ‘PAA’ Puts Spotlight on Very Rare Disease Progeria
A recently released Bollywood movie, “Paa” (means dad) starring one of the most versatile and accomplished actors, Amitabh Bachchan, has stirred active interest in the very rare disease, Progeria (see the spate of news stories about the movie and disease).
As per the Progeria Research Foundation, Progeria or Hutchinson-Gilford Progeria Syndrome ( “HGPS”), is a rare, fatal genetic condition characterized by an appearance of accelerated aging in children. Its name is derived from the Greek and means “prematurely old.” The classic type of the disease ia called is Hutchinson-Gilford Progeria Syndrome, which was named after the doctors who first described it in England; in 1886 by Dr. Jonathan Hutchinson and in 1897 by Dr. Hastings Gilfor
The disease is so rare that only 40-50 patients are known to have the condition. These children are born looking healthy, but with Progeria they “begin to display many characteristics of rapid aging at around 18-24 months of age. Progeria signs include growth failure, loss of body fat and hair, aged-looking skin, stiffness of joints, hip dislocation, generalized atherosclerosis, cardiovascular (heart) disease and stroke. Children with Progeria die of atherosclerosis (heart disease) at an average age of thirteen years (with a range of about 8 – 21 years).”
In 2003, a major breakthough in Progeria research happened with the discovery of the LMN Gene that is likely the cause of the disease.
But more importantly, there is actually an active clinical trial underway for the first possible drug for this disease. A combination of Lonafarnib, Zoledronic Acid, and Pravastatin is being tested as a possible treatment for Progeria at the Childrens Hospital in Boston.
This is remarkable that within just 7 years of the discovery of the gene, a treatment is well underway in clinical trials!
The cast of Paa have done a great service by bringing this disease into the mainstream discussion.
We need more such efforts on a regular basis to increase awareness about clinical trials of treatment for other conditions.