Comprehensive Program for Hereditary Transthyretin Amyloidosis

NCT07213297 | Recruiting

• 1 other identifier: ESCAN
• Study Type: observational
• Target: 20
• Locations: 1 country
• Sites: 1

Brief Summary

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.

Conditions

Amyloidosis in Transthyretin (TTR); Amyloidosis, Familial

Keywords

transthyretin; amyloidosis; comprensive care

Outcome Measures

Primary Outcomes (1)

• Phenotypic classification

  1. Predominantly Cardiac Phenotype: Patients will present with abnormal electrocardiograms (ECG) due to rhythm disturbances, heart failure, or dyspnea. They will exhibit no more than mild neurological or gastrointestinal (GI) symptoms. Conditions such as erectile dysfunction, constipation, and carpal tunnel syndrome will be excluded from this phenotype. 2. Predominantly Neurological Phenotype: Patients will exhibit neurological or GI symptoms of any severity. They will not have abnormal ECGs due to rhythm disturbances, heart failure, or dyspnea. Neurological and GI symptoms will need to be continuous and definitively linked to amyloidosis. 3\]) Mixed Phenotype: Patients will present with abnormal ECGs due to rhythm disturbances, heart failure, or dyspnea. They will also have neurological or GI symptoms of any severity. These patients will not meet the criteria for a predominantly cardiac or neurological phenotype.

  3 YEARS

Secondary Outcomes (15)

• Change from baseline in New York Heart Association (NYHA) functional class

  3 years

• Change from baseline in 6-Minute Walk Test (6MWT) distance

  3 years

• Change from baseline in N-terminal pro-brain natriuretic peptide (Pro-BNP)

  3 years

• Change from baseline in Troponin T

  3 years

• Change from baseline in Microalbuminuria

  3 years

Other Outcomes (1)

• Minimum criteria

  3 years

Study Arms (1)

Participants over 18 years of age diagnosed with hereditary transthyretin amyloidosis

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 .

Other: clinical assessments and complementary examinations

Interventions

clinical assessments and complementary examinations OTHER

Evaluation Plan Comprehensive Examination: Complete medical history and physical examination of all body systems, including height and weight measurements. Clinical Parameters: Pulse/heart rate, respiratory rate, and SpO2 will be monitored. The NYHA classification will be used to assess heart failure if applicable. Neurological Examination: Includes motor strength testing, sensory testing (pinprick, light touch, temperature, proprioception), deep tendon reflexes, and gait assessment. Electrocardiogram (ECG): A 12-lead ECG will be performed with the subject at rest for at least 5 minutes in a supine position. 24-hour Holter Monitoring: Conducted in cases of suspected arrhythmias or echocardiographic findings indicating arrhythmias. Color Dosments and complementary examinations

Participants over 18 years of age diagnosed with hereditary transthyretin amyloidosis

Eligibility Criteria

• Age: 18 Years+
• Sex: all
• Healthy Volunteers: No
• Age Groups: Adult (18-64), Older Adult (65+)
• Sampling Method: Non-Probability Sample

Study Population

Participants over 18 years of age diagnosed with hereditary transthyretin amyloidosis 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.

You may qualify if:

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

You may not qualify if:

• wild-type TTR amyloidosis

Sponsors & Collaborators

• Hospital de Alta Complejidad en Red: lead

Study Sites (1)

Hospital Cuenca Alta de Cañuelas

Cañuelas, Buenos Aires, 1814, Argentina

RECRUITING

Related Publications (1)

• Pinto MV, Barreira AA, Bulle AS, Freitas MRG, Franca MC Jr, Gondim FAA, Marrone CD, Marques W Jr, Nascimento OJM, Rotta FT, Pupe C, Waddington-Cruz M. Brazilian consensus for diagnosis, management and treatment of transthyretin familial amyloid polyneuropathy. Arq Neuropsiquiatr. 2018 Sep;76(9):609-621. doi: 10.1590/0004-282X20180094.

  PMID: 30365625 BACKGROUND

MeSH Terms

Conditions

Amyloidosis, Familial; Amyloidosis

Condition Hierarchy (Ancestors)

Metabolism, Inborn Errors; Genetic Diseases, Inborn; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Metabolic Diseases; Nutritional and Metabolic Diseases; Proteostasis Deficiencies

Central Study Contacts

Gisela Zanga, MD

CONTACT

+5491156074899; gzanga84@hotmail.com

Study Design

• Study Type: observational
• Observational Model: COHORT
• Time Perspective: PROSPECTIVE
• Target Duration: 3 Years
• Sponsor Type: OTHER
• Responsible Party: PRINCIPAL INVESTIGATOR
• PI Title: PRINCIPAL INVESTIGATOR

Study Record Dates

• First Submitted: September 5, 2025
• First Posted: October 8, 2025
• Study Start: November 1, 2025
• Primary Completion (Estimated): November 1, 2028
• Study Completion (Estimated): December 1, 2028
• Last Updated: March 24, 2026

Record last verified: 2026-03

Locations

AR (1)