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Transthyretin-Associated Amyloidoses Outcomes Survey (THAOS)
THAOS is a global, multi-center, longitudinal observational survey open to all patients with transthyretin-associated amyloidoses (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. A large and diverse data set will maximize the information yield; and for this reason, ATTR patients and their physicians are strongly encouraged to consider participation.
The objectives of this survey are:
- To describe the population of patients affected with TTR-associated amyloidoses (ATTR), including hereditary ATTR and wild-type ATTR
- To enhance the understanding of disease natural history, including the variability and progression of the hereditary and acquired forms of the disease
- To better understand the genotype - phenotype relationship in hereditary ATTR
- To compare the progression of disease and overall survival in patients with hereditary ATTR with and without liver transplant
- To foster an international community of medical experts who will develop recommendations on the clinical management of ATTR
- To better understand, manage and treat patients with ATTR through publication of the survey data
- To evaluate treatment modalities that may benefit patients with ATTR.
Eligibility:
Ages eligible for study: 18 years and older
Genders eligible for study: Both
Study Population:
Patients with a documented genotyped TTR mutation, with or without a diagnosis of TTR-associated amyloidosis, or patients with wild-type TTR-associated amyloidosis with cardiomyopathy.
Criteria:
Inclusion Criteria:
1. Written informed consent
2. Patient has confirmed:
1. genotyped TTR mutation with or without a diagnosis of TTR-associated amyloidosis (e.g., ATTR-PN, ATTR-CM), or
2. Wild-type TTR-associated amyloidosis with cardiomyopathy (wild-type ATTR-CM)
Confirmation of wild-type ATTR-CM will be determined by one of the following set of criteria (A or B):
A. Presence of amyloid in cardiac biopsy tissue confirmed as TTR amyloid by immunohistochemistry and genotyped confirmation that patient does not possess a known mutation in TTR gene (i.e., is a carrier of wild-type allele only) via genetic testing.
OR
B. Evidence of cardiac involvement by echocardiogram as defined by mean left ventricle wall thickness of > 12 mm, and presence of amyloid in non-cardiac tissue confirmed as TTR amyloid by immunohistochemistry, and genotyped confirmation that patient does not possess a known mutation in TTR gene (i.e., is a carrier of wild-type allele only) via genetic testing.
Exclusion Criteria:
1. Patient is participating in an investigational clinical trial (blinded or open-label design) and receiving an investigational drug and/or device.
2. Patient has primary or secondary amyloidosis.
Contacts and Locations
Please refer to this study by its ClinicalTrials.gov identifier: NCT00628745. Learn more about this trial.
To be considered for site enrollment or to learn more, please contact:
Barbara White
Clinical Project Manager (THAOS)
Phone: +1 (617) 252-5534
Fax: +1 (617) 252-5501
Email: BWhite@foldrx.com
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