Liaison(s): Karen Kuphal, Joe Testa
Sigma-Tau Pharmaceuticals is dedicated to helping patients affected by rare diseases. The FDA defines a rare disease as a disease that affects fewer than 200,000 individuals in the United States. Sigma-Tau’s core belief and dedication is that the study of rare diseases should be an integral part of its research activity. Consequently, Sigma-Tau has chosen to specialize in these diseases by discovering novel therapeutics to help patients suffering from these rare conditions. Sigma-Tau Pharmaceuticals is in the process of exploring and expanding their rare disease product profile for cerebrotendinous xanthomatosis (CTX). Unfortunately, there is no current standardized screening method in the United States for CTX. Consequently, without proper disease detection, CTX patients can remain undiagnosed or misdiagnosed until their disease state has progressed. Sigma-Tau is interested in generating a road map for the inclusion of CTX in newborn screening. The establishment of a standard for the CTX screening of newborns will help patients by providing a more timely diagnosis of disease, provide patients with earlier therapeutic intervention and increase the market opportunity for Sigma-Tau Pharmaceutical’s CTX-related products. The Sigma-Tau TMP team was given two main goals: 1) gain an in-depth understanding of the epidemiology of CTX; and, 2) generate a road map for the possible adoption and implementation of a test for CTX in the existing newborn screening panel. To accomplish these objectives, the team performed a comprehensive literature search and interviewed Key Opinion Leaders of CTX to understand unmet clinical needs associated with CTX diagnosis and treatment. The team then synthesized collected information to produce an overview of CTX diagnosis within the United States and to develop a strategy for the newborn screening of CTX. In addition, the team identified diseases mechanistically related to CTX and compiled an Orphan Drug Application (ODA) involving a promising new indication for one of Sigma-Tau’s CTX-related products. This ODA was provided to Sigma-Tau for possible submission to the FDA. Upon project completion the TMP team provided Sigma-Tau a CTX status report which included: all available CTX epidemiologic and diagnostic data; identified current unmet clinical needs associated with CTX; explored and identified the role of patient advocacy groups within the CTX community; provided recommendations to increase CTX awareness; and, recommendations regarding the implementation of a newborn screening test for CTX.