A new study set to explore the biomarkers for hereditary transthyretin amyloidosis (hATTR) is currently in the recruitment phase.

Researchers will assess disease severity biomarkers in symptomatic patients and disease onset biomarkers in presymptomatic patients, as well as explore the possible underlying mechanisms of hATTR such as mitochondrial dysfunction and immune response.

According to the study protocol, various serum, histological, and radiological biomarkers will be investigated in approximately 80 participants aged 18 years or older, including symptomatic and presymptomatic TTR pathogenic variants carriers and healthy individuals.

The researchers will evaluate circulating hATTR disease biomarkers in symptomatic and presymptomatic individuals at weeks 24, 48, 72, and 96 as primary outcome measures, as well as neuropathological and radiological biomarkers in symptomatic and presymptomatic individuals at baseline and week 96.

Read more about hATTR diagnosis

Secondary outcome measures will include an evaluation of the mitochondrial dysfunction in study participants at baseline and an assessment of the inflammatory profile in study participants at baseline and week 96.

“The last few years have been characterized by a significant change in disease management due to a deeper knowledge of the phenotype-genotype correlations and most importantly to the availability of disease-modifying therapies. This raises the need for reliable disease biomarkers, in order to monitor the efficacy of the pharmacological treatment and the progression of the disease but also to identify the disease onset in the presymptomatic carriers of TTR gene pathogenic variants,” the researchers wrote.

The study, sponsored by Fondazione Policlinico Universitario Agostino Gemelli IRCCS, will be carried out in Rome, Italy. The primary completion date will be December 31, 2025, and the actual study completion date is set for April 30, 2026.

hATTR is an autosomal-dominant disorder marked by extracellular deposition of amyloid in different organs, with highly variable prevalence between endemic and nonendemic places and high rates of initial misdiagnosis.


Exploring biomarkers in hereditary transthyretin amyloidosis (ELBA). ClinicalTrials.gov. Last updated July 3, 2023. Accessed July 10, 2023.