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Genetic screening for hereditary transthyretin amyloidosis in at-risk individuals

Genetic Screening of an At-risk Population for Hereditary TransthyRetin-related AMyloidosis and Longitudinal Monitoring of TTR Positive Subjects- a Multicenter Epidemiological Longitudinal Protocol

Observational CENTOGENE GmbH Rostock · NCT03237494

This study is trying to see how common hereditary transthyretin amyloidosis is among people who are at risk or already diagnosed, while also looking for signs that could help identify the disease earlier.

Quick facts

Study typeObservational
Enrollment5000 (estimated)
Ages18 Years and up
SexAll
SponsorCENTOGENE GmbH Rostock Industry-sponsored
Drugs / interventionschemotherapy
Locations84 sites (Linz and 83 other locations)
Trial IDNCT03237494 on ClinicalTrials.gov

What this trial studies

This observational study aims to investigate the prevalence of hereditary transthyretin amyloidosis (hATTR) in a cohort of 5,000 individuals at risk for the condition, as well as those already diagnosed. It will monitor the clinical status of TTR positive subjects and establish potential biomarkers for hATTR. The study involves a national, multicenter, epidemiological, and longitudinal approach to gather comprehensive data on this slowly progressive disease characterized by abnormal protein deposits in various body tissues. Participants will be screened based on specific risk factors associated with hATTR.

Who should consider this trial

Good fit: Ideal candidates include individuals aged 18 and older who are at risk for hATTR due to specific clinical factors or have a family history of the condition.

Not a fit: Patients with a confirmed diagnosis of alcoholism or those who have undergone chemotherapy for any carcinoma may not benefit from this study.

Why it matters

Potential benefit: If successful, this study could lead to earlier diagnosis and better management of hereditary transthyretin amyloidosis, improving patient outcomes.

How similar studies have performed: Other studies have shown promise in genetic screening and monitoring approaches for similar amyloidosis conditions, indicating potential for success in this study.

Eligibility criteria

Show full inclusion / exclusion criteria 
Inclusion Criteria:

* 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

AND

The participant is at risk for hATTR due to two or more the factors listed below:

* cardiomyopathy or polyneuropathy with no obvious etiology atypical Chronic Inflammatory Demyelinating Polyneuropathy (CIDP) or Motor Neuron Disease (MND)
* autonomic dysfunction
* hypertrophic cardiomyopathy or heart failure with preserved ejection fraction Left Ventricular Hypertrophy (LVH)
* bilateral carpal tunnel syndrome
* spinal stenosis or spinal radiculopathy
* gait disorders
* ocular changes involving vitreous opacities
* unexplained weight loss \>5kg
* renal abnormalities
* family history of hATTR
* based on imaging or biopsy suspected for the wild type TTR (ATTR) and not genetically tested for hATTR

OR • The participant is diagnosed with hATTR

OR

• The participant is a 1st or 2nd degree relative of the TTR positive subject

Exclusion Criteria

* Informed consent is not obtained from the participant
* The participant is younger than 18 years of age
* The participant has a diagnosis of alcoholism according to International guidelines
* The participant has undergone chemotherapy for any carcinoma
* The participant is not at risk for hATTR

Where this trial is running

Linz and 83 other locations

+34 more sites — see ClinicalTrials.gov for the full list.

Study contacts

How to participate

  1. Review the eligibility criteria above with your treating physician.
  2. Visit the official trial page on ClinicalTrials.gov for the most current contact information and recruitment status.
  3. Contact the listed study coordinator or principal investigator to request pre-screening. Pre-screening is free and never obligates you to enroll.
View on ClinicalTrials.gov → Find more trials like this →
Conditions Transthyretin AmyloidosisTransthyretin-Related Familial Amyloid PolyneuropathyTransthyretin-Related Familial Amyloid CardiomyopathyPolyneuropathiesCardiomyopathiesPeripheral Nervous System DiseasesTransthyretin-related familial amyloid polyneuropathyTransthyretin-related familial amyloid cardiomyopathy
Last reviewed 2026-06-13 by the Find a Trial editorial team. Information on this page is for educational purposes and is not medical advice. Always consult qualified healthcare professionals about clinical trial participation.