Principal Investigator: Jose Nativi-Nicolau
Keywords: Heart Failure , Amyloidosis Department: Cardiovascular Medicine
IRB Number: 00090613 Co Investigator: Jose Nativi-Nicolau
Specialty: Cardiology, Cardiology
Sub Specialties: General Cardiology, Heart Failure
Recruitment Status: Recruiting

Contact Information

Ashlee Rooks
ashlee.rooks@hsc.utah.edu
801-585-7295

Brief Summary

The objectives of THAOS are to:  

Describe the population of patients affected with TTR amyloidosis;  

Enhance the understanding of disease natural history, including the variability and progression of the hereditary and acquired forms of the disease;  

Better understand the genotype – phenotype relationship in hereditary TTR amyloidoses (ATTR);

Compare the progression of disease and overall survival in patients with ATTR with and without liver transplant;

Foster an international community of medical experts who will develop recommendations on the clinical management of TTR amyloidoses;

Better understand, manage and treat patients with TTR amyloidoses through publication of the survey data; Evaluate treatment modalities that may benefit patients with TTR amyloidoses;

For tafamidis-treated participants, collect and summarize all AE/SAE data, including for the specific safety concerns outlined in Table 1 Summary of Ongoing Safety Concerns to be Assessed in THAOS: identified risks, including UTI, diarrhea, vaginal infections, and upper abdominal pain; potential risks, including hepatotoxicity, effects on thyroid function (particularly in pregnancy), hypersensitivity reactions, and pregnancy and lactation risks; and important missing data regarding tafamidis, including safety and efficacy in elderly patients, longer term safety, and safety and efficacy in patients with TTR-FAP mutations other than V30M. For all THAOS participants (tafamidis-treated and those not treated with tafamidis), collect and summarize additional data on the events of interest listed above, as applicable.

 

 

 

Inclusion Criteria

Inclusion Criteria Patients must meet all of the following inclusion criteria to be eligible for enrollment into THAOS:

1. Evidence of a personally signed and dated informed consent document indicating that the patient (or a legally acceptable representative) has been informed of all pertinent aspects of the study.

2. Males and females 18 years of age.

3. Confirmed genotyped TTR mutation with or without a diagnosis of ATTR, or wildtype TTR amyloidosis. Confirmation of wild-type TTR 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):  All Genetic Testing will be done as standard of care and determined prior to the patient being enrolled into the study.  

a. Evidence of cardiac involvement by echocardiogram as defined by mean left ventricle wall thickness of >12 mm, and presence of amyloid in cardiac biopsy tissue confirmed as TTR amyloid by mass spectrometry or immunohistochemistry; 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 mass spectrometry or immunohistochemistry; or

c. Evidence of cardiac involvement by echocardiogram as defined by mean left ventricle wall thickness of >12 mm, no evidence of primary (light chain) amyloidosis, 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 >or =2.

Exclusion Criteria

8.2.2. Exclusion Criteria Patients presenting with any of the following will not be included in THAOS:

1. Patient has primary or secondary amyloidosis.