An observational study in Amyloidosis in Transthyretin (TTR) and Amyloidosis, Familial, sponsored by Hospital de Alta Complejidad en Red. Recruiting at 1 site in Argentina. Open to participants aged 18 Years and older. Per ClinicalTrials.gov, last updated 2026-03-24.
Sponsored by Hospital de Alta Complejidad en Red · Observational
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.
24 studies on the registry are indexed under Amyloidosis, Familial; 11 are open to participants now.
This study's planned enrollment of 20 is below the median of 65 across 12 observational studies indexed under Amyloidosis, Familial.
Browse Amyloidosis, Familial studies →Hospital de Alta Complejidad en Red is the lead sponsor of 2 studies on the registry; 2 are open to participants now.
Counted across the registry records on this site, refreshed daily.
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.
-Participants with a pathogenic variant of the TTR gene (Hereditary Amyloidosis)
Exclusion Criteria:
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
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
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.
Time frame: 3 YEARS
Change from baseline in New York Heart Association (NYHA) functional class
Functional class assessed using the NYHA scale (range I-IV, higher class indicates worse cardiac function).
Time frame: 3 years
Change from baseline in 6-Minute Walk Test (6MWT) distance
Distance walked in meters will be measured according to ATS guidelines. Lower values indicate reduced functional capacity
Time frame: 3 years
Change from baseline in N-terminal pro-brain natriuretic peptide (Pro-BNP)
Serum concentration measured in pg/mL. Higher values indicate worse cardiac function.
Time frame: 3 years
Change from baseline in Troponin T
Serum concentration measured in ng/L. Higher values indicate myocardial injury
Time frame: 3 years
Change from baseline in Microalbuminuria
Urinary albumin excretion measured in mg/24h. Higher values indicate worse renal involvement.
Time frame: 3 years
Change from baseline in Left Ventricular Ejection Fraction
Ejection fraction (%) measured by echocardiography. Lower values indicate worse cardiac function
Time frame: 3 years
Change from baseline in Left Ventricular Wall Thickness
Wall thickness measured in millimeters by echocardiography. Higher values indicate worse disease progression.
Time frame: 3 years
Change from baseline in diastolic dysfunction grade
Diastolic dysfunction assessed by echocardiography following ASE guidelines. Higher grade indicates worse dysfunction.
Time frame: 3 years
Incidence of atrial fibrillation, atrioventricular block, or PR interval prolongation
Presence of atrial fibrillation, new AV block, or PR interval prolongation assessed by ECG. Categorical outcome (Yes/No).
Time frame: 3 years
Change from baseline in Coutinho/PND (Polyneuropathy Disability) score
Score range 0-IV; higher score indicates greater disability
Time frame: 3 years
Change from baseline in Neuropathy Impairment Score (NIS)
Total score range 0-244; higher values indicate worse neuropathy.
Time frame: 3 years
Change from baseline in COMPASS-31 total score
Questionnaire score range 0-100; higher values indicate worse autonomic symptoms.
Time frame: 3 years
Change from baseline in Norfolk QoL-DN score
Total score range -4 to 136; higher values indicate worse quality of life related to neuropathy.
Time frame: 3 years
Change from baseline in RODS (Rasch-built Overall Disability Scale)
Score range 0-48; lower values indicate greater disability
Time frame: 3 years
Change from baseline in Body Mass Index (BMI)
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.
Time frame: 3 years
Minimum criteria
To explore minimum criteria for disease onset in patients initially considered asymptomatic: 1. A quantified symptom or sign definitely related to the onset of the disease. * Sensorimotor neuropathy * Autonomic neuropathy * Heart involvement * Kidney or eye involvement either 2. Any likely related symptoms plus 1 abnormal test result. either 3. Absence of symptoms and 2 abnormal test results
Time frame: 3 years
Plan to share: Undecided
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