A new study in Poland is recruiting patients with hereditary transthyretin amyloidosis (hATTR) and wild-type ATTR (ATTRwt) to assess patterns of myocardial uptake of diphosphono-1,2-propanedicarboxylic acid (DPD) via single-photon emission computed tomography (SPECT). The study will also assess DPD cardiac uptake among asymptomatic carriers of hATTR.

SPECT has demonstrated the ability to assess the burden of amyloid deposits within individual segments of the left ventricle. The researchers will conduct an observational, prospective, family-based study to evaluate SPECT results along with planar scintigraphy and speckle tracking echocardiography using visual and quantitative approaches. Furthermore, patients will undergo transthyretin (TTR) gene sequencing to identify pathogenic variants of hATTR.

hATTR is a rare inherited disease characterized by the buildup of amyloid, an abnormally folded protein, in various organs of the body including the heart, eyes, gastrointestinal tract, kidneys, and peripheral nervous system. It is caused by mutations in the TTR gene and can lead to peripheral edema, atrial arrhythmias, and chronic heart failure, which can be fatal.

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The study aims to enroll 100 participants aged 18 or more years, who will be divided into 2 groups: (1) patients with hATTR and ATTRwt who have grade 1 to 3 cardiac DPD retention on scintigraphy, and (2) first-degree relatives of patients with ATTR.

The primary outcome measure is to compare regional left ventricular 99mTc-DPD uptake between individuals with hATTR and those with ATTRwt, and secondary outcome measures are the prevalence of right ventricular 99m-Tc-DPD uptake in patients and the extent of its uptake in asymptomatic hATTR carriers.

A final outcome measure will assess the left ventricular longitudinal strain profile via echocardiography in patients with hATTR and ATTRwt.

The study started on May 4, 2020, and is currently recruiting. The estimated primary completion date is March 1, 2024.


The regional scintigraphic DPD uptake in cardiac transthyretin amyloidosis. (AMYLOIDOZA). ClinicalTrials.gov. April 14, 2023. Updated April 19, 2023. Accessed April 25, 2023.