Skip to main content
OpenTrials
Recruiting

NCT Number: NCT07213297

Comprehensive Program for Hereditary Transthyretin Amyloidosis

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.

Recruiting

Interested in participating?

Request Info

Key information

Conditions

Amyloidosis in Transthyretin (TTR) Amyloidosis Amyloidosis, Familial Congenital, Hereditary, and Neonatal Diseases and Abnormalities Genetic Diseases, Inborn Metabolic Diseases Metabolism, Inborn Errors Nutritional and Metabolic Diseases Proteostasis Deficiencies

Age range

18 year and older

Sex eligibility

All sexes

Study type

Observational

Primary location

Hospital Cuenca Alta de Cañuelas

Canuelas, Buenos Aires, 1814, Argentina

Location status: Recruiting

Location contact

Debora Nadur, MD

CONTACT

[email protected]

+5491139180350

Who can participate

Healthy volunteers accepted: No

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

Inclusion criteria

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

Exclusion criteria

  • wild-type TTR amyloidosis

Treatment and study plan

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

Primary outcomes

  1. Phenotypic classification

    Time frame: 3 YEARS

    • 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.

    • 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.

Secondary outcomes

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

    Time frame: 3 years

    Functional class assessed using the NYHA scale (range I-IV, higher class indicates worse cardiac function).

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

    Time frame: 3 years

    Distance walked in meters will be measured according to ATS guidelines. Lower values indicate reduced functional capacity

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

    Time frame: 3 years

    Serum concentration measured in pg/mL. Higher values indicate worse cardiac function.

  4. Change from baseline in Troponin T

    Time frame: 3 years

    Serum concentration measured in ng/L. Higher values indicate myocardial injury

  5. Change from baseline in Microalbuminuria

    Time frame: 3 years

    Urinary albumin excretion measured in mg/24h. Higher values indicate worse renal involvement.

  6. Change from baseline in Left Ventricular Ejection Fraction

    Time frame: 3 years

    Ejection fraction (%) measured by echocardiography. Lower values indicate worse cardiac function

  7. Change from baseline in Left Ventricular Wall Thickness

    Time frame: 3 years

    Wall thickness measured in millimeters by echocardiography. Higher values indicate worse disease progression.

  8. Change from baseline in diastolic dysfunction grade

    Time frame: 3 years

    Diastolic dysfunction assessed by echocardiography following ASE guidelines. Higher grade indicates worse dysfunction.

  9. Incidence of atrial fibrillation, atrioventricular block, or PR interval prolongation

    Time frame: 3 years

    Presence of atrial fibrillation, new AV block, or PR interval prolongation assessed by ECG. Categorical outcome (Yes/No).

  10. Change from baseline in Coutinho/PND (Polyneuropathy Disability) score

    Time frame: 3 years

    Score range 0-IV; higher score indicates greater disability

  11. Change from baseline in Neuropathy Impairment Score (NIS)

    Time frame: 3 years

    Total score range 0-244; higher values indicate worse neuropathy.

  12. Change from baseline in COMPASS-31 total score

    Time frame: 3 years

    Questionnaire score range 0-100; higher values indicate worse autonomic symptoms.

  13. Change from baseline in Norfolk QoL-DN score

    Time frame: 3 years

    Total score range -4 to 136; higher values indicate worse quality of life related to neuropathy.

  14. Change from baseline in RODS (Rasch-built Overall Disability Scale)

    Time frame: 3 years

    Score range 0-48; lower values indicate greater disability

  15. Change from baseline in Body Mass Index (BMI)

    Time frame: 3 years

    BMI calculated as weight (kg)/height (m²). Both weight and height will be measured and aggregated to report BMI. Higher or lower values may reflect disease progression.

Other outcomes

  1. Minimum criteria

    Time frame: 3 years

    To explore minimum criteria for disease onset in patients initially considered asymptomatic:

    • A quantified symptom or sign definitely related to the onset of the disease.
    • Sensorimotor neuropathy
    • Autonomic neuropathy
    • Heart involvement
    • Kidney or eye involvement either
    • Any likely related symptoms plus 1 abnormal test result. either
    • Absence of symptoms and 2 abnormal test results

Study contacts

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

Gisela Zanga, MD

CONTACT

[email protected]

+5491156074899

Sponsors and collaborators

Lead sponsor

Hospital de Alta Complejidad en Red

Other

Registry information

Important dates

Study start
2025
Primary completion
2028
Study completion
2028
First posted
Oct 8, 2025
Registry last updated
Mar 24, 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.

Related clinical trials

Published trials that share one or more normalized conditions with this study.