FDASIA/PDUFA V elevates the role of patients in developing orphan therapies. It mandates that FDA implement ways to bring patients' views into drug development and FDA’s regulatory review. This is appropriate as it is often these patients that push development of orphan drugs forward.
While there are many, we highlight here one example that illustrates the growing power of patients. The LAM Foundation is a patient organization chartered in 1995 by a mother of a LAM patient to raise awareness and fund research on this debilitating disease. LAM (lymphangioleiomyomatosis) is a very rare, progressive, and frequently fatal systemic neoplasm that results in cystic destruction of the lungs and generally occurs in young women.
The LAM Foundation helped arrange funding and subjects for a pivotal clinical trial to study sirolimus, a drug approved to prevent renal transplant rejection, for the treatment of LAM. The results of this successful study were published in the New England Journal of Medicine and the Journal editors wrote an accompanying piece commending this patient organization for its sterling efforts. See McCormack FX, et al. Efficacy and Safety of Sirolimus in Lymphangioleiomyomatosis. N Engl J Med 2011;364:1595-606. The FDA granted orphan drug designation to The LAM Foundation for sirolimus for treating LAM on October 31, 2012.
The efforts of The LAM Foundation are just one example of how the role of patients, particularly patients with rare diseases, is becoming even more crucial in developing new medicines. Onward!