The disease is Hutchinson-Gilford Progeria, an ultra-rare condition – occurring in just 1 in 4 million births and characterized by premature aging.
The natural history of progeria is death, usually due to cardiac causes, in the early to mid-teen years. Until recently, there have been no known therapies.
Enter lonafarnib, an obscure little farnesyl transferase inhibitor that has seen some use in hepatitis delta virus infection and is being investigated for its anti-cancer properties.
The first trial of lonafarnib led to promising results -- kids treated with the drug had improved weight gain and less skeletal rigidity. But only now was there enough data collected to look at a hard outcome – all-cause mortality.
The researchers compared 63 patients treated with lonafarnib to 63 patients who were not treated with the drug. Again, this wasn't randomized. I think there's a good argument here that randomization would be unethical. That said, the researchers matched treated and untreated patients on a variety of factors to minimize bias. And the results were dramatic.
Among the treated patients, just four died over the two years of study, compared to 17 deaths in the untreated group. These results are unheard of in this disease. Results this strong are rarely seen in most diseases, actually.
Now most of these kids started taking the medication at around 9 or 10 years of age, and it didn't seem to have much effect on their physical appearance. But one wonders if earlier treatment would lead to even more dramatic results.