The Regional Scintigraphic DPD Uptake in Cardiac Transthyretin Amyloidosis.

NCT05814380 | Unknown

• 1 other identifier: ID#57165999
• Study Type: observational
• Target: 100
• Locations: 1 country
• Sites: 1

Brief Summary

Cardiac transthyretin (ATTR) amyloidosis is an infiltrative cardiomyopathy with an inexorably progressive clinical course and poor prognosis. The disease is caused by misfolding of the liver-derived precursor protein transthyretin as a result of an acquired wild-type variant (ATTRwt) or as a hereditary mutant variant (ATTRm). Application of single-photon emission computed tomography (SPECT) provides greater anatomic resolution, enabling the assessment of amyloid burden within individual left ventricle segments.This study aims to describe the pattern of regional myocardial distribution of 3,3-diphosphono-1,2-propanedicarboxylic acid (DPD) SPECT uptake among patients with ATTRwt and ATTRm. It will investigate the clinical, biochemical and echocardiographic, including left ventricle longitudinal strain profile in ATTRwt and ATTRm. Moreover, we will evaluate the presence and extent of DPD cardiac uptake among asymptomatic ATTRm variants carriers.This is a prospective multi-center observational study. The study, after obtaining prior written informed consent, will include consecutive patients who have Grade 1-3 cardiac DPD retention in scintigraphy. In addition, first-degree relatives of patients with ATTRm are going to be enrolled. Patients are going to undergo TTR gene sequencing to assess the presence of pathogenic variants associated with ATTRm. Both planar scintigraphy, SPECT and speckle-tracking echocardiography will be reviewed and interpreted using visual and quantitative approaches.

Conditions

Transthyretin Amyloidosis

Keywords

transthyretin amyloidosis; SPECT

Outcome Measures

Primary Outcomes (1)

• regional left ventricle 99mTc-DPD uptake

  To compare the regional left ventricle 99mTc-DPD uptake among patients with hereditary and wild-type cardiac transthyretin amyloidosis.

  day 1

Secondary Outcomes (2)

• right ventricular 99mTc-DPD accumulation

  day 1

• 99mTc-DPD cardiac uptake among asymptomatic hereditary transthyretin amyloidosis variants carriers

  day 1

Other Outcomes (1)

• left ventricle longitudinal strain

  day 1

Study Arms (2)

Group 1

grade 1-3 cardiac retention of 99mTc-DPD in scintigraphy

Radiation: 99mTc-DPD scintigraphy; Diagnostic Test: Collection of blood samples and echocardiography

Group 2

first-degree relative of a patient with ATTR

Radiation: 99mTc-DPD scintigraphy; Diagnostic Test: Collection of blood samples and echocardiography

Interventions

99mTc-DPD scintigraphy RADIATION

99mTc-DPD scintigraphy

Group 1; Group 2

Collection of blood samples and echocardiography DIAGNOSTIC_TEST

Collection of blood samples from a peripheral vein and TTR sequencing. Transthoracic echocardiography.

Group 1; Group 2

Eligibility Criteria

• Age: 18 Years+
• Sex: all
• Healthy Volunteers: Yes
• Age Groups: Adult (18-64), Older Adult (65+)
• Sampling Method: Probability Sample

Study Population

100 consecutive patients

You may qualify if:

• over 18 years of age,
• providing written informed consent,
• grade 1-3 cardiac retention of 99mTc-DPD in scintigraphic study or a first-degree relative of a patient with ATTR

Sponsors & Collaborators

• Katarzyna Holcman: lead

Study Sites (1)

Department of Cardiac and Vascular Diseases, John Paul II Hospital

Krakow, Lesser Poland Voivodeship, 31-202, Poland

RECRUITING

Related Publications (3)

• Holcman K, Rubis P, Cmiel B, Zabek A, Boczar K, Stepien-Wroniecka A, Graczyk K, Mroz K, Dziewiecka E, Mateusz W, Szczepara S, Kurek M, Gutkowska K, Podolec P, Kostkiewicz M. The left ventricular mechanical dispersion as a marker of disease severity in transthyretin cardiac amyloidosis. Sci Rep. 2025 Nov 27;15(1):42372. doi: 10.1038/s41598-025-26329-x.

  PMID: 41309713 DERIVED

• Holcman K, Rubis P, Podolec P, Ostrowska M, Stepien-Wroniecka A, Graczyk K, Mroz K, Zabek A, Boczar K, Dziewiecka E, Winiarczyk M, Cmiel B, Kurek M, Kostkiewicz M. Transthyretin-related amyloid cardiomyopathy: A single-center experience in southern Poland, an endemic area. Kardiol Pol. 2025;83(9):1039-1052. doi: 10.33963/v.phj.107207. Epub 2025 Jul 11.

  PMID: 40643127 DERIVED

• Holcman K, Rubis P, Cmiel B, Stepien A, Graczyk K, Mroz K, Szot W, Dziewiecka E, Winiarczyk M, Kurek M, Keska M, Podolec P, Kostkiewicz M. Pre-symptomatic scintigraphic and genetic cascade screening in cardiac transthyretin amyloidosis. Eur J Nucl Med Mol Imaging. 2025 Apr;52(5):1840-1852. doi: 10.1007/s00259-024-06966-6. Epub 2024 Nov 14.

  PMID: 39537877 DERIVED

MeSH Terms

Conditions

Amyloidosis, Hereditary, Transthyretin-Related

Interventions

Echocardiography

Intervention Hierarchy (Ancestors)

Cardiac Imaging Techniques; Diagnostic Imaging; Diagnostic Techniques and Procedures; Diagnosis; Ultrasonography; Heart Function Tests; Diagnostic Techniques, Cardiovascular

Central Study Contacts

Katarzyna Holcman, MD, PhD

CONTACT

+48 12 614 22 87; katarzyna.holcman@gmail.com

Study Design

• Study Type: observational
• Observational Model: FAMILY BASED
• Time Perspective: PROSPECTIVE
• Sponsor Type: OTHER
• Responsible Party: SPONSOR INVESTIGATOR
• PI Title: Principal Investigator

Study Record Dates

• First Submitted: April 3, 2023
• First Posted: April 14, 2023
• Study Start: May 4, 2020
• Primary Completion: March 1, 2024
• Study Completion: March 1, 2024
• Last Updated: April 19, 2023

Record last verified: 2023-04

Data Sharing

• IPD Sharing: Will not share

Locations

PL (1)