NEW YORK (GenomeWeb) – Alnylam Pharmaceuticals this week announced that it has initiated a screening study, called DISCOVERY, to examine the prevalence of transthyretin (TTR) mutations in patients believed to have cardiac amyloidosis, in support of its continued development of an RNAi-based treatment for the disease.
Currently, Alnylam has two drugs in development for transthyretin-mediated amyloidosis. The first, called patisiran, is systemically administered and is being tested for a form of the condition called familial amyloid polyneuropathy, which affects the peripheral nervous system. It is in Phase III testing.
The second, called ALN-TTRsc, is a subcutaneous treatment for forms of the disease called familial amyloidotic cardiomyopathy (FAC) and senile systemic amyloidosis, both of which affect heart tissue. Alnylam hopes to move this drug into Phase III in FAC patients before year-end.
In order to facilitate the development of ALN-TTRsc, Alnylam has initiated the DISCOVERY study, which will enroll up to 1,000 patients with suspected cardiac amyloidosis. Its primary objective is to "further characterize disease features in patients found to have a TTR mutation," Alnylam said.
Results from the study are expected to determine the frequency of TTR mutations in patients with clinical and/or radiological findings of cardiac amyloidosis and identify FAC patients who may be eligible for clinical trials of ALN-TTRsc.