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NCT Number: NCT07124377

Phenotypic Manifestations of Hereditary ATTR Amyloidosis

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

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Key information

Conditions

Hereditary Amyloidosis, Transthyretin-Related Amyloidosis, Hereditary, Transthyretin-Related

Age range

20 year and older

Sex eligibility

All sexes

Study type

Observational

Primary location

Hospital las Breñas 9 de Julio, Charata, Chaco Province, Argentina

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About this study

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.

Who can participate

Healthy volunteers accepted: No

Only the study team can determine whether someone qualifies for participation.

Inclusion criteria

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

Exclusion criteria

  • Patients who refuse to participate.

Treatment and study plan

A complete physical examination of all body systems, including height and body weight

Other

These interventions will be carried out in a time-controlled population within a family cluster of VAL50MET

Neurological examination includes motor strength testing; sensory testing with pinprick, light touch, temperature, and proprioception; deep tendon reflexes; and gait assessment.

Other

These interventions will be carried out in a time-controlled population within a family cluster of VAL50MET

Electrocardiogram (12-lead ECG)

Diagnostic Test

These interventions will be carried out in a time-controlled population within a family cluster of VAL50MET

24-Hour Holter Monitoring

Diagnostic Test

These interventions will be carried out in a time-controlled population within a family cluster of VAL50MET

Color Doppler echocardiography with "two-dimensional strain" (longitudinal strain)

Diagnostic Test

These interventions will be carried out in a time-controlled population within a family cluster of VAL50MET

The Norfolk Quality of Life-Diabetic Neuropathy (QOL-DN)

Other

These interventions will be carried out in a time-controlled population within a family cluster of VAL50MET

questionnaire, the NIS-LL (Neuropathy Impairment Score in the Lower Limbs)

Other

These interventions will be carried out in a time-controlled population within a family cluster of VAL50MET

COMPASS-31 (Composite Autonomic Symptom Score-31)

Other

These interventions will be carried out in a time-controlled population within a family cluster of VAL50MET

Electromyogram (EMG)

Diagnostic Test

These interventions will be carried out in a time-controlled population within a family cluster of VAL50MET

[99mTc]Tc-DPD scintigraphy

Diagnostic Test

These interventions will be carried out in a time-controlled population within a family cluster of VAL50MET

Laboratory assessments

Diagnostic Test

Laboratory assessments include blood and urine sample collection for serum chemistry, hematology, and urinalysis, with specific biomarker analyses (troponin T, NT-proBNP, Kappa, and Lambda light chains

Primary outcomes

  1. Describe the phenotypic variables (preclinical, cardiological, neurological and mixed) in patients carrying the TTR Val50Met variant in a non-endemic population.

    Time frame: 2 years

    The predominantly cardiac phenotype includes patients with abnormal ECG due to rhythm disturbance, heart failure, or dyspnea, minimal neurologic or GI symptoms, and diagnostic findings such as interventricular septum hypertrophy (>12 mm), Holter monitoring, and [99mTc]Tc-DPD scintigraphy (Peugerini Score 1-3).

    The predominantly neurologic phenotype features patients with ongoing neurologic or GI symptoms definitively linked to ATTR amyloidosis, without abnormal ECG findings. Key assessments include autonomic neuropathy (orthostatic hypotension, sexual dysfunction), EMG, Norfolk QoL-DN (-4-246), COMPASS-31 (0-100), and NIS-LL (0-88).

    The mixed phenotype includes patients with abnormal ECG and neurologic or GI symptoms of any severity, failing to meet criteria for predominantly cardiac or neurologic phenotypes.

Secondary outcomes

  1. Explore minimum criteria considered for the onset of disease in patients carrying the Val50Met variant initially identified as asymptomatic.

    Time frame: 2 years

    Minimum criteria for disease onset include: (1) one quantified symptom or sign definitively related to the disease, such as sensorimotor neuropathy, autonomic neuropathy, cardiac involvement, or renal/ocular involvement; (2) any symptom probably related with one abnormal test finding; or (3) absence of symptoms with two abnormal test findings.

Study contacts

Contact information is provided by the study sponsor or research team.

Mauricio MT TOMEI, MD

CONTACT

[email protected]

+5493731558832

Sponsors and collaborators

Lead sponsor

Hospital 9 de Julio de Las Breñas

Other Gov

Collaborators

  • Instituto de Cardiología de Corrientes

Registry information

Official study title

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

Important dates

Study start
2024
Primary completion
2026
Study completion
2027
First posted
Aug 15, 2025
Registry last updated
Apr 2, 2026

OpenTrials presents study information sourced from ClinicalTrials.gov. The official registry record should be consulted for the latest information.

View the official ClinicalTrials.gov record (opens in a new tab)

This listing is for discovery and informational purposes only. It is not medical advice, does not guarantee that a study is recruiting, and does not determine eligibility. Contact the study team and a qualified healthcare professional when considering participation.

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