ClinicalTrials.gov record NCT07213297

Comprehensive Program for Hereditary Transthyretin Amyloidosis

Record copied from ClinicalTrials.gov: Oct 10, 2026AI summaries generated: Sep 17, 2026

Comprehensive Program for Hereditary Transthyretin Amyloidosis

StatusRecruitingThe study is currently enrolling participants. Only the study team can say whether a particular person can join.
Study typeObservationalA study in which researchers do not assign participants to a treatment or other intervention. They observe or measure what happens, which may include study visits, tests, questionnaires or a review of medical records.
Age18 years old and older
SexAll
LocationArgentina
AI summaryWhat this study is about, in plain languageShow ▾Hide ▴

AI-written from the registry record, not the study's own wording. May contain errors or omissions. Check the registry text on this page and the original record ↗ before acting on it.

This prospective observational study follows adults (18+) with pathogenic TTR gene variants, including symptomatic people and asymptomatic carriers. Over about 3 years participants receive detailed clinical evaluations, diagnostic tests (for heart and nerve function), questionnaires, and genetic testing (noted as sponsored by pharmaceutical companies). The study aims to describe different clinical phenotypes and factors linked to disease onset and progression.

What it is studying. The study is testing how hereditary transthyretin (TTR) amyloidosis presents across people (cardiac, neurological, or mixed patterns), which clinical features and measurements change over time, and what minimum signs define disease onset. It collects clinical exams, genetic data, cardiac and neurologic tests, functional tests, laboratory measures, and patient questionnaires over a planned follow-up.

What the researchers hope to learn. To classify patient phenotypes (predominantly cardiac, predominantly neurological, or mixed), measure changes in cardiac and neurological function and disability over 3 years, and identify factors and minimum criteria associated with disease onset and progression.

What this study is about

The study's own summary, as published on ClinicalTrials.gov. Underlined terms have a short explanation.

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.

Interventions being studied

Being studied in this trial does not mean the treatment or procedure is approved or available for this condition.

Other
  • clinical assessments and complementary examinations

Eligibility

The criteria exactly as listed on ClinicalTrials.gov. Only the study team can say whether they apply to you.

Inclusion criteria

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

Exclusion criteria

  • wild-type TTR amyloidosis

Study description and what participation involves

The registry record has no detailed description beyond the summary above.

AI summaryWhat participation may involve, in plain languageShow ▾Hide ▴

AI-written from the registry record, not the study's own wording. May contain errors or omissions. Check the registry text on this page and the original record ↗ before acting on it.

Participants will undergo a comprehensive initial evaluation and repeated follow-up visits over up to 3 years. Visits include medical history and full physical exam, vital signs, neurological exam (motor, sensory, reflexes, gait), heart testing (12-lead ECG at rest; 24-hour Holter monitoring if arrhythmia is suspected), echocardiography, blood and urine tests (for markers such as Pro-BNP, troponin T, microalbumin), a 6-minute walk test, and questionnaires and neuropathy/quality-of-life scales. Genetic testing is part of the evaluations as described in the record. Some tests (for example Holter monitoring) are done only when clinically indicated.

How the study is structured. A prospective observational cohort: no treatments are assigned. Participants are followed for about 3 years with repeated clinical assessments and diagnostic tests (for example, heart and nerve exams, ECG/Holter monitoring, functional tests, lab measures, and questionnaires). Genetic testing is included and noted as sponsored by pharmaceutical companies.

Questions you could ask

These questions are suggestions for a conversation with the study team or your own clinician, not advice.

  • The registry lists this study under Amyloidosis in Transthyretin (TTR); Amyloidosis, Familial. Does it apply to my diagnosis?
  • This is an observational study, so the study itself gives no treatment. What would taking part involve for me, and would it change my usual care?
  • The listed sites are in Argentina. Is any of them reachable for me, and does the study help with travel?
  • Which of the eligibility criteria would need to be checked with tests before I could join?

More on wild-type ATTR amyloidosis

This trial is also listed on this site under ATTRv amyloidosis.

Clinical trials121 trials listed for wild-type ATTR amyloidosisEvery trial the registry lists for wild-type ATTR amyloidosis, with recruitment status, phase and sites, updated from ClinicalTrials.gov.See all trials →Research updatesWhat changed in wild-type ATTR amyloidosis researchLatest monthly update: September 2026. Includes: Frailty and support needs. New research summarized each month in plain language, with links to every source paper.Read the latest update →

Important dates

Study start
Nov 1, 2025
Primary completion
Nov 1, 2028 (estimated)
Study completion
Dec 1, 2028 (estimated)
Target enrollment
20 participants (estimated)
Last updated on registry
Mar 24, 2026
Data verified
Oct 10, 2026

Sponsor and research team

The lead sponsor funds and oversees the trial. A pharmaceutical or biotech company sponsor typically means the study is testing that company's drug or device; a hospital, university, or government agency usually indicates investigator-initiated or publicly funded research.

Lead sponsor
Hospital de Alta Complejidad en Red
Principal investigator
Gisela Mariel Zanga, PRINCIPAL INVESTIGATOR
Hospital de Alta Complejidad en Red

Central study contact

If you're interested in participating, the central contact can answer general questions about the study — including eligibility requirements and how to find a recruiting site near you. Actual eligibility is determined by the site's medical team.

Participating sites (1)

Terms used on this page · explanations by MedicalUpdates.ai

Inclusion Criteria
The conditions a person must meet to be considered for the study, for example a confirmed diagnosis, an age range or a test result.
Exclusion Criteria
The conditions that rule a person out even if they meet the inclusion criteria, for example other illnesses, certain medicines or pregnancy.

The study record on this page is reproduced from ClinicalTrials.gov, a database of the U.S. National Library of Medicine, where it was submitted by the study sponsor. MedicalUpdates.ai does not own this content, is not affiliated with or endorsed by ClinicalTrials.gov, NIH, or the U.S. Government, and does not verify the record. Plain-language notes, the glossary and the questions above are added by this site; text in the boxes marked "AI summary" was written by an AI model and may contain errors. Registry records change over time. Check the original record for the current version and discuss eligibility or participation with a qualified healthcare professional.

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