NEW YORK—As Pfizer notes, rare diseases are among the most serious of all illnesses and impact 350 million patients worldwide, often children; there are more than 7,000 known rare diseases, only 5 percent of which have an approved medication. “For rare disease patients and their loved ones, better treatment options cannot come soon enough,” the company notes, adding, “At Pfizer, we share their urgency and passionately dedicate our resources, expertise and global reach to bring them the transformative medicines they need.”
With that image in mind, on Aug. 8, Pfizer Inc. announced the publication of a new post-hoc analysis of data from three studies of Vyndaqel (tafamidis) in patients with mild transthyretin familial amyloid polyneuropathy (TTR-FAP). Pfizer considers itself a leader in the TTR-FAP community, stating that it “has been at the forefront of educational initiatives to raise awareness of this rare disease among healthcare professionals and to facilitate dialogue between patients, their families, and their physicians. These efforts have contributed to a global increase in diagnosis rates and treatment.”
And now, with this new data, Pfizer can possibly add “increases in efficacy of treatment” to the list.
This new analysis, which included patients with the Val30Met mutation treated over varying periods of up to 5.5 years, showed that treatment with Vyndaqel initiated during the early stage of TTR-FAP resulted in minimal neurological disease progression and in preservation of body weight, which often declines as the disease progresses. Vyndaqel was well tolerated with no new safety signals observed. The new findings were published online in Amyloid: The Journal of Protein Folding Disorders.
“These findings underscore the long-term benefits of early intervention with Vyndaqel for symptomatic patients with TTR-FAP,” said Dr. Kevin W. Williams, chief medical officer in the Rare Disease division of Pfizer Innovative Health. “This analysis, which is based on the longest prospective evaluation to date of any medication being studied for TTR-FAP, provides healthcare professionals with important insights into the management of patients with this disease.”
The new findings reported in Amyloid are based on data from three sequential studies: an 18-month randomized, double-blind, placebo-controlled Phase 3 pivotal trial of 125 TTR-FAP patients; its 12-month open-label extension; and a second, ongoing, long-term open-label extension study. This descriptive analysis examined a subset of 71 of the randomized patients whose neurological impairment was defined as mild just prior to starting treatment with Vyndaqel, either at study start (for those randomized to Vyndaqel) or upon entry into the first open-label extension (for those randomized to placebo).
As noted by Pfizer, TTR-FAP is a rare, genetic, progressive and irreversible neurodegenerative disease that significantly impairs quality of life and is estimated to affect about 10,000 people worldwide. When left untreated, people with TTR-FAP die within 10 years of symptom onset, on average. The disease is caused by a mutation in the gene for the protein transthyretin (TTR), resulting in production of unstable TTR proteins that can accumulate as amyloid deposits in nerves and other organs, interfering with normal function. Vyndaqel is a medicine designed to specifically stabilize TTR, preventing or slowing the formation of abnormal TTR proteins and subsequent amyloid deposits.
Vyndaqel is indicated in the European Union for the treatment of TTR-FAP in adult patients with early-stage symptomatic polyneuropathy to delay peripheral neurologic impairment. Since its EU approval in 2011, Vyndaqel has also been approved in Japan, Mexico, Argentina, Israel and South Korea. Vyndaqel is not approved in the United States.