Transthyretin Amyloidosis Outcome Survey (THAOS)

Pfizer

Status: Completed

Conditions: Transthyretin Amyloidosis; Transthyretin Gene Mutations

Treatments: Other: None. Observational Study.

Study type: Observational

Funder types: Industry

Identifiers

NCT00628745

B3461001

FX-R-001 (Other Identifier)

THAOS (Other Identifier)

Details and patient eligibility

About

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.

Full description

n/a NA

Enrollment: 6,718 patients

Sex: All

Ages: 18+ years old

Volunteers: No Healthy Volunteers

Inclusion and exclusion criteria

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

1. 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.

2. Males and females greater than or equal to 18 years of age.

3. 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):

   1. Presence of amyloid in cardiac biopsy tissue confirmed as TTR amyloid by mass spectrometry or immunohistochemistry; or
   2. 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
   3. 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.

Trial design

6,718 participants in 1 patient group

Observational

Treatment:

Other: None. Observational Study.