An observational study in Transthyretin Amyloidosis, Transthyretin-Related (ATTR) Familial Amyloid Polyneuropathy and Transthyretin-Related (ATTR) Familial Amyloid Cardiomyopathy, sponsored by CENTOGENE GmbH Rostock. Completed at 84 sites in 3 countries. Open to participants aged 18 Years and older. Per ClinicalTrials.gov, last updated 2025-06-29.
Sponsored by CENTOGENE GmbH Rostock · Observational
National, multicenter, epidemiological, longitudinal protocol to investigate the hATTR prevalence in an at-risk population for Hereditary Transthyretin Amyloidosis (hATTR) and subjects diagnosed with hATTR, to monitor the clinical status in TTR positive subjects and to establish hATTR biomarker/s
Hereditary TransThyRetin Amyloidosis (hATTR) is a slowly progressive condition, that is transmitted as an autosomal dominant trait and is characterized by abnormal extracellular deposits of fibrillar, misfolded proteins (amyloid fibrils) in the body. Amyloid fibrils can be deposited in different body compartments, such as the nerves, heart, gastrointestinal tract, kidneys and brain, causing severe structural changes. More than 30 proteins can trigger the formation of amyloid fibrils, 5 of which can infiltrate the heart and cause cardiac amyloidosis.
One of these amyloidogenic protein is transthyretin, formerly known as prealbumin. Transthyretin (TTR) is found primarily in the serum (secreted by the liver) and cerebrospinal fluid (secreted by the choroid plexus) and functions as a carrier for the hormone thyroxine (T4) and retinol-binding protein (bound to retinol or vitamin A). The destabilization of the TTR protein and the formation of misfolded TTR.
It is the goal of this study to investigate the prevalence of Hereditary Transthyretin-related Amyloidosis (hATTR) in a cohort of 5.000 subjects are at risk for Hereditary Transthyretin Amyloidosis (hATTR) and subjects diagnosed with hATTR, to monitor the clinical status in TTR positive subjects and to establish hATTR biomarker/s.
Participants at risk for Hereditary Transthyretin Amyloidosis (hATTR) and participants diagnosed with hATTR
AND
The participant is at risk for hATTR due to two or more the factors listed below:
OR • The participant is diagnosed with hATTR
OR
Exclusion Criteria
Participants 18 years of age or older
Analysis of prevalance of hATTR mutations among a cohort of participants at risk for hATTR.
DBS-based genetic analyses of TTR gene will be perfomed via the combination of the Next-Generation Sequencing (the mutation will be confirmed by Sanger sequencing) and the Multiplex ligation-dependent probe amplification.
Time frame: 4 years
To monitor clinical status in TTR positive subjects.
8 Follow up visits within 24 months
Time frame: 4 years
Establishment of biomarker/s in TTR positive cohort.
hATTR-positive samples will be analyzed for the identification of potential biomarkers (based on MS/MS-Tandem spectroscopy) and compared with the merged control samples in order establish a HAE specific biomarker.
Time frame: 4 years
This study is completed, as verified in Sep 2024. You cannot join it, but the record below documents what was studied.
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Amyloidosis, Hereditary, Transthyretin-Related→
CENTOGENE GmbH Rostock