Genetic screening of an at-risk population for Hereditary TransthyRetin-related AMyloidosis and longitudinal monitoring of TTR positive subjects

Recruiting

• Conditions: G60-G64; I42; E85; Polyneuropathies and other disorders of the peripheral nervous system; Cardiomyopathy; Amyloidosis

• Registration Number: DRKS00016158
• Lead Sponsor: Centogene AG Rostock

Brief Summary

Not available

Detailed Description

Not available

Study Timeline

• Study Start: 2019-03-12
• Results First Posted: 2021-10-16
• Last Update Posted: 19 August 2024

Recruitment & Eligibility

• Status: Recruiting
• Sex: All
• Target Recruitment: 5000

Inclusion Criteria

• Informed consent is obtained from the participant
• 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

Study & Design

• Study Type: observational
• Study Design: Not specified

Primary Outcome Measures

Name	Time	Method
To monitor clinical status in TTR positive subjects.

Secondary Outcome Measures

Name	Time	Method
To investigate the hATTR prevalence in an at-risk population.<br><br>Identification of hATTR-specific Biomarker(s).