TRAMmoniTTR Study Genetic Screening of an At-risk Population for hATTR and Monitoring of TTR Positive Subjects (TRAMmoniTTR)
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|ClinicalTrials.gov Identifier: NCT03237494|
Recruitment Status : Recruiting
First Posted : August 2, 2017
Last Update Posted : April 22, 2021
|Condition or disease|
|Transthyretin Amyloidosis Transthyretin-Related (ATTR) Familial Amyloid Polyneuropathy Transthyretin-Related (ATTR) Familial Amyloid Cardiomyopathy Polyneuropathies Cardiomyopathies|
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.
|Study Type :||Observational|
|Estimated Enrollment :||5000 participants|
|Official Title:||Genetic Screening of an At-risk Population for Hereditary TransthyRetin-related AMyloidosis and Longitudinal Monitoring of TTR Positive Subjects- A Multicenter Epidemiological Longitudinal Protocol|
|Actual Study Start Date :||July 20, 2017|
|Estimated Primary Completion Date :||December 31, 2024|
|Estimated Study Completion Date :||December 31, 2024|
Participants at risk for hATTR and participants diagnosed with hATTR
Participants 18 years of age or older
- Analysis of prevalance of hATTR mutations among a cohort of participants at risk for hATTR. [ Time Frame: 4 years ]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.
- To monitor clinical status in TTR positive subjects. [ Time Frame: 4 years ]8 Follow up visits within 24 months
- Establishment of biomarker/s in TTR positive cohort. [ Time Frame: 4 years ]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.
Biospecimen Retention: Samples With DNA
To learn more about this study, you or your doctor may contact the study research staff using the contact information provided by the sponsor.
Please refer to this study by its ClinicalTrials.gov identifier (NCT number): NCT03237494
|Contact: Sabine Roesner||+49 381 email@example.com|
|Study Chair:||Peter Bauer, Prof.||Centogene GmbH|