Cardiac amyloidosis

Alnylam Pharmaceuticals has started the DISCOVERY trial of its investigational candidate ALN-TTRsc, to evaluate the prevalence of transthyretin (TTR) mutations in patients suspected of cardiac amyloidosis.

The DISCOVERY trial is aimed at identifying and facilitating diagnosis of TTR-mediated familial amyloidotic cardiomyopathy (FAC), which is caused by mutations in TTR.

The company is developing ALN-TTRsc for the treatment of patients with TTR cardiac amyloidosis, including FAC and senile systemic amyloidosis (SSA), which is caused by idiopathic amyloid deposition of wild-type TTR in the heart.

Around 1,000 patients suspected of having cardiac amyloidosis are expected to be enrolled in the prospective, multi-centre DISCOVERY trial.

Primary objective of the trial is to characterise the frequency of TTR mutations, besides further characterising disease features in patients with a TTR mutation.

Results from the trial 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 new investigational therapeutics such as ALN-TTRsc.

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Alnylam vice-president of Medical Affairs Pritesh Gandhi said: "We believe that ALN-TTRsc has the potential to be an important therapeutic for the treatment of FAC – an underdiagnosed disease with significant morbidity and mortality, and no approved therapies. With the initiation of DISCOVERY, we aim to identify and facilitate the diagnosis of FAC by screening patients suspected of having cardiac amyloidosis for the presence of TTR mutations.

"We are excited about the potential for ALN-TTRsc for the treatment of patients with TTR cardiac amyloidosis. Our clinical data to date with ALN-TTRsc have demonstrated robust knockdown of circulating TTR – the disease-causing gene – of up to 94%, with a very encouraging safety profile.

"With accurate and earlier diagnosis of FAC, we may have the potential to make an impact in the lives of these patients."

"We believe that ALN-TTRsc holds promise as a potential new therapeutic option for patients with TTR-mediated cardiac amyloidosis."

TTR-mediated amyloidosis (ATTR) is an inherited, progressively debilitating and often fatal disease caused by mutations in the TTR gene.

Morehouse School of Medicine endowed professor and director of Cardiovascular Research Institute Herman Taylor said: "FAC is under-recognised, and it is our hope that the DISCOVERY study will raise awareness amongst patients and health care professionals of this debilitating and progressive disease.

"With accurate and earlier diagnosis of FAC, we may have the potential to make an impact in the lives of these patients."

At present, the company is carrying out a Phase II trial designed to assess the safety, tolerability, pharmacodynamic and preliminary clinical activity of ALN-TTRsc in patients with FAC and SSA.

The open-label, multi-dose Phase II trial is designed to enrol around 25 TTR cardiac amyloidosis patients with FAC or SSA.

Image: Micrograph showing amyloid deposition (red fluffy material) in the heart (cardiac amyloidosis). Photo: courtesy of Nephron.