Transthyretin Amyloidosis Outcome Survey (THAOS)

Study Overview
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Brief Summary
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THAOS is a global, multi-center, longitudinal observational survey open to all patients with transthyretin amyloidosis (ATTR), including ATTR-PN (polyneuropathy), ATTR-CM (cardiomyopathy) and wild-type ATTR-CM. It is open-ended with a minimum duration of 10 years. Patients will be followed as long as they are able to participate. The principal aims of this outcome survey are to better understand and characterize the natural history of the disease by studying a large and heterogenous patient population. Survey data may be used to develop new treatment guidelines and recommendations, and to inform and educate clinicians about the management of this disease.

Detailed Description
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n/a NA

Official Title
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Transthyretin Amyloidosis Outcomes Survey (THAOS): A Global, Multi-Center, Longitudinal, Observational Survey of Patients With Documented Transthyretin Gene Mutations or Wild-Type Transthyretin Amyloidosis.

Conditions
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Transthyretin Gene Mutations, Transthyretin Amyloidosis

Intervention / Treatment
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* Other: None. Observational Study.


Participation Criteria
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Eligibility Criteria
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Inclusion Criteria: Patients must meet all of the following inclusion criteria to be eligible for inclusion into THAOS: Evidence of a personally signed and dated informed consent document indicating that the participant (or a legally acceptable representative) has been informed of all pertinent aspects of the study. Males and females greater than or equal to 18 years of age. Confirmed genotyped TTR mutation with or without a diagnosis of hereditary or wild-type ATTR amyloidosis. Confirmation of ATTRwt amyloidosis will be determined by genotyped confirmation that patient does not possess a known mutation in TTR gene (ie, is a carrier of wild-type allele only) via genetic testing and one of the following set of criteria (a, b, or c): Presence of amyloid in cardiac biopsy tissue confirmed as TTR amyloid by mass spectrometry or immunohistochemistry; or Evidence of cardiac involvement by echocardiogram as defined by left ventricle wall thickness of >12 mm, and presence of amyloid in non-cardiac tissue confirmed as TTR amyloid by mass spectrometry or immunohistochemistry; or Evidence of cardiac involvement by echocardiogram as defined by left ventricle wall thickness of >12 mm, and presence of amyloid in cardiac tissue indirectly confirmed by scintigraphy with a bone seeking tracer eg, 99mTC-DPD [99mTC-3,3-diphosphono-1,2-propano-dicarboxylic acid], 99mTC- PYP [Pyrophosphate], and 99mTC-HMDP [hydroxymethylene diphosphonate] with Perugini grade greater than or equal to 2. Exclusion Criteria Patients meeting any of the following will not be included in the study: 1. Patient has evidence of primary (light chain) or secondary amyloidosis.

Ages Eligible for Study
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Minimum Age: 18 Years

Sexes Eligible for Study
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All

Accepts Healthy Volunteers
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No

Study Plan
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How is the study designed?
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Arms and Interventions

| Participant Group/Arm | Intervention/Treatment |
| --- | --- |
| Observational<br> | Other: None. Observational Study.<br> <br> |

What is the study measuring?
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Primary Outcome Measures

| Outcome Measure | Measure Description | Time Frame |
| --- | --- | --- |
| The objectives of THAOS are to describe the population of patients affected with TTR amyloidosis and to enhance the understanding of the disease natural history, including the variability and progression of the hereditary and acquired forms of disease. | Cardiovascular and Neurological efficacy endpoints for analysis of clinical outcomes on all enrolled patients with available data. Outcomes will be examined for the entire patient group, as well as through subgroups based on important variables. | Dec 2007 to June 2023 | 

 Terms related to the study
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Keywords Provided by Centre Hospitalier Valida
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TRANSTHYRETIN, AMYLOIDOSIS, TRANSTHYRETIN AMYLOIDOSIS, Transthyretin amyloid cardiomyopathy