ClinicalTrials.gov record NCT07124377

Phenotypic Manifestations of Hereditary ATTR Amyloidosis

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

Phenotypic Manifestations of Hereditary ATTR Amyloidosis Val50Met Variant in a Non-endemic Area. Descriptive Study

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.
Age20 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 is a prospective observational study of people who carry the TTR Val50Met genetic variant. It will collect clinical, heart, neurological and imaging data to describe how the disease shows up and to look for early signs in people who are initially without symptoms. Participants undergo exams, tests, imaging and questionnaires over a planned follow-up of about 1 year.

What it is studying. The study is characterizing the range of phenotypes (preclinical, cardiac, neurologic, and mixed) seen in carriers of the TTR Val50Met variant in a non‑endemic area and defining minimum criteria that mark disease onset in people first identified as asymptomatic.

What the researchers hope to learn. To describe the cardiac, neurologic, mixed, and preclinical presentations of Val50Met carriers in a non‑endemic population and to identify minimum measurable criteria for disease onset in initially asymptomatic carriers.

What this study is about

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

This study focuses on hereditary transthyretin amyloidosis (ATTRv) with the Val50Met variant in a non endemic aerea

Interventions being studied

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

Diagnostic test
  • Electrocardiogram (12-lead ECG)
  • 24-Hour Holter Monitoring
  • Color Doppler echocardiography with "two-dimensional strain" (longitudinal strain)
  • Electromyogram (EMG)
  • [99mTc]Tc-DPD scintigraphy
  • Laboratory assessments
Other
  • A complete physical examination of all body systems, including height and body weight
  • Neurological examination includes motor strength testing; sensory testing with pinprick, light touch, temperature, and proprioception; deep tendon reflexes; and gait assessment.
  • The Norfolk Quality of Life-Diabetic Neuropathy (QOL-DN)
  • questionnaire, the NIS-LL (Neuropathy Impairment Score in the Lower Limbs)
  • COMPASS-31 (Composite Autonomic Symptom Score-31)

Eligibility

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

Inclusion criteria

  • All subjects between 20 and 70 years of age, carriers of the Val50Met variant

Exclusion criteria

  • Patients who refuse to participate.

Study description and what participation involves

The study's detailed description, as published on ClinicalTrials.gov.

Detailed description from the registry

We aim to describe the phenotypic variables including preclinical, cardiological, neurological, and mixed manifestations in patients carrying the Val50Met variant. Our goal is to identify early disease onset criteria in initially asymptomatic patients, enhancing early detection and treatment strategies. Participants will undergo various clinical examinations and tests to gather comprehensive data.

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 have a full physical and focused neurological exam and complete questionnaires about neuropathy and autonomic symptoms. Heart tests include a 12-lead ECG, 24-hour Holter monitoring, and Doppler echocardiography with longitudinal strain; nerve testing includes electromyogram (EMG). They will undergo [99mTc]Tc-DPD scintigraphy (a nuclear imaging scan) and provide blood and urine samples for laboratory and biomarker tests (for example troponin T, NT-proBNP, kappa and lambda light chains). These assessments are collected over the study period (about one year) to describe clinical and preclinical features.

How the study is structured. Prospective observational cohort: people with the Val50Met variant are followed over time without receiving any assigned treatment. Study visits include clinical exams, cardiac testing (ECG, 24‑hour Holter, echocardiography with strain), neurologic evaluation and questionnaires (Norfolk QoL‑DN, NIS‑LL, COMPASS‑31), EMG, [99mTc]Tc‑DPD imaging, and blood/urine laboratory assessments.

Questions you could ask

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

  • 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 ATTRv amyloidosis

This trial is also listed on this site under wild-type ATTR amyloidosis.

Clinical trials106 trials listed for ATTRv amyloidosisEvery trial the registry lists for ATTRv amyloidosis, with recruitment status, phase and sites, updated from ClinicalTrials.gov.See all trials →Research updatesWhat changed in ATTRv amyloidosis researchLatest monthly update: September 2026. Includes: Gene-silencing drugs. New research summarized each month in plain language, with links to every source paper.Read the latest update →

Important dates

Study start
Sep 1, 2024
Primary completion
Dec 30, 2026 (estimated)
Study completion
Mar 1, 2027 (estimated)
Target enrollment
57 participants (estimated)
Last updated on registry
Apr 2, 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 9 de Julio de Las Breñas
Principal investigator
Mauricio Tomei, Principal Investigator
Hospital 9 de Julio de Las Breñas
Collaborators
  • Instituto de Cardiología de Corrientes

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 (2)

  • Hospital las Breñas 9 de JulioEnrolling By Invitation

    Charata, Chaco Province, 6300 · Argentina

  • Hosptial Las BreñasRecruiting

    Charata, Chaco Province · Argentina

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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