Comprehensive Program for Hereditary Transthyretin Amyloidosis

Hospital de Alta Complejidad en Red

Status: Not yet enrolling

Conditions: Amyloidosis in Transthyretin (TTR); Amyloidosis, Familial

Treatments: Other: clinical assessments and complementary examinations

Study type: Observational

Funder types: Other

Identifiers

NCT07213297

ESCAN

Details and patient eligibility

About

The Comprehensive Program for Hereditary Transthyretin Amyloidosis describes a prospective observational study focused on understanding hereditary transthyretin amyloidosis (ATTR), a progressive and potentially fatal condition marked by amyloid fibril deposits impacting multiple organs. The trial aims to characterize patient phenotypes, investigate factors affecting disease progression, and identify minimum criteria for disease onset. Conducted at Néstor Kirchner Hospital, the trial enrolls participants over 18 years old with confirmed pathogenic TTR variants. It includes thorough evaluations such as genetic testing sponsored by pharmaceutical companies, clinical assessments, and diverse diagnostic tests.

Enrollment: 20 estimated patients

Sex: All

Ages: 18+ years old

Volunteers: No Healthy Volunteers

Inclusion criteria

-Participants with a pathogenic variant of the TTR gene (Hereditary Amyloidosis)

Exclusion criteria

• wild-type TTR amyloidosis

Trial design

20 participants in 1 patient group

Participants over 18 years of age diagnosed with hereditary transthyretin amyloidosis

Description:

Participants with a pathogenic variant of the TTR gene confirmed by genetic testing, whether symptomatic and/or with suspected disease progression, as well as asymptomatic carriers of these variants, will be included. Individuals with wild-type TTR amyloidosis will be excluded .

Treatment:

Other: clinical assessments and complementary examinations