- Clinical Studies
- Global Patient Testing Programs
- Hereditary Transthyretin-Related Amyloidosis and Longitudinal Monitoring of TTR Positive Subjects (TRAMmoniTTR)
Summary and Rationale
The TRAMmoniTTR study aims to investigate the ATTRv prevalence in an at-risk population, monitor clinical status in TTR positive subject, and establish ATTRv biomarker(s).
Study access on CentoPortal® for participating physicians
Hereditary Transthyretin Amyloidosis (ATTRv, hereditary amyloidosis, transthyretin-related) is an autosomal dominant condition caused by a pathogenic variant in the TTR gene (Plante-Bordeneuve et al. 2011). The TTR gene is coding for 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 proteins results in the transthyretin amyloidosis (ATTRv) diseases.
On average, the diagnosis is delayed by 4–5 years, especially in non-endemic areas. Also, potential misdiagnosis is due to ATTRv´s clinical heterogeneity (Adams et al., 2016).
In order to facilitate early diagnosis, treatment choice, and individualization, ATTRv biomarker(s) are crucial.
Participants will receive a definite diagnosis if a pathogenic variant in the TTR gene is found.
Information about the Study
Design: National, multicenter, epidemiological, observational, longitudinal study
Study population: Participants at risk for Hereditary Transthyretin Amyloidosis (ATTRv) and participants diagnosed with ATTRv
Number of patients: 5,000 participants
First patient in: November 2020
Last patient in: July 2022
Duration of study: 48 months
- Monitoring of the clinical status in TTR positive subjects
- Investigating the prevalence of ATTRv in an at-risk population
- Establishing ATTRv biomarker(s)
Find out how you can participate: ClinicalTrials.gov
The patients fulfilling the inclusion criteria will be enrolled in the study. All participants will have a single research blood sample drawn, which will be equivalent to 30 drops of blood (around 1ml). The sample will be applied to a CentoCard®, which will be sent to CENTOGENE and analyzed in CENTOGENE’s laboratory.
The sample will be genetically tested for ATTRv.
The TTR genetically positive subjects can participate further in the study.
First and second degree relatives of subjects with a class 1 (pathogenic), class 2 (likely pathogenic), or class 3 (variant of uncertain significance) variant in the TTR gene will be invited to the study site by a study doctor. The study doctor will check the clinical history of subjects. Symptomatic family members will be offered to be enrolled in the TRAMmoniTTR study, and the TTR gene will be genetically tested.
Asymptomatic family members will be offered genetic counseling prior to the predictive genetic testing for ATTRv.
|Informed consent is obtained from the participant|
|The participant is 18 years of age or older|
|The participant has no diagnosis of alcoholism according to international guidelines|
|The participant has not undergone chemotherapy for any carcinoma|
|The participant is at risk for ATTRv due to two or more the factors listed below:|
Scientific Advisory Board (SAB)
PD Dr. Katrin Hahn (Chairwoman)
Prof. Dr. Birgit Aßmus
Prof. Dr. Thomas Skripuletz
Medizinische Hochschule Hannover
Prof. Dr. Monika Patten-Hamel
Prof. Dr. Peter Bauer
Am Strande 7
Project Team - CENTOGENE
Clinical Project Manager
Am Strande 7
Dr. Xenia Bogdanovic
Clinical Study Researcher
Am Strande 7
CPM Team Leader
Am Strande 7