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Centogene, Alnylam Pharmaceuticals Partner on Biomarker Study of Transthyretin Amyloidosis

NEW YORK – Centogene said on Tuesday that it is teaming up with Alnylam Pharmaceuticals on a clinical biomarker study of hereditary transthyretin-related amyloidosis (ATTRv).

The study, called TRAMmoniTTR, will longitudinally monitor the clinical status of both symptomatic and asymptomatic participants with variants in the TTR gene, which encodes transthyretin, formerly known as prealbumin. Mutated Ttr proteins get misfolded, which results in transthyretin amyloidosis.

Centogene will use its metabolomics profiling platform to discover and characterize novel biomarkers for ATTRv in TTR-positive participants, which may accelerate diagnosis and personalized treatment.

The study is a follow-up to an earlier project, called TRAM, that started in 2017 and has been screening 5,000 participants with polyneuropathy or cardiomyopathy of unknown etiology for ATTRv, resulting in more than 50 participants receiving a diagnosis so far.

"This is the first study where both symptomatic and asymptomatic TTR-positive participants will be monitored for two years," said Centogene Chief Genomic Officer Peter Bauer in a statement. "This will allow us to validate our ATTRv biomarkers and later utilize them for treatment individualization."

"This program will help to better understand diagnostic pathways and identify possible biomarkers to accelerate the diagnosis of this devastating disease," said Bernhard Kaumanns, VP of medical affairs CEMEA at Alnylam, in a statement. "Equally important is the patient follow-up that this program provides; long-term evidence-based data will be generated to improve the understanding of this disease under conditions of daily clinical practice."

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