Comprehensive Program for Hereditary Transthyretin Amyloidosis
Trial statusRecruiting
Trial phaseNot listed
Trial typeObservational
Biological sexAll
Age18+
SponsorHospital de Alta Complejidad en Red
About this trial
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.
Eligibility criteria
This trial does not accept healthy volunteersQualifiers
None
Disqualifiers
wild-type TTR amyloidosis
Trial population
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.
Trial design
Design model
Cohort
Time perspective
Prospective
Treatments tested in this trial
clinical assessments and complementary examinations
Other interventionEvaluation 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
Treatment groups
20 Participants
are divided into 1 treatment groupGroup A: Participants over 18 years of age diagnosed with hereditary transthyretin amyloidosis1 intervention
Trial outcomes
Primary outcomes
1
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 YEARSSecondary outcomes
1
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 years2
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 years3
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 years4
Change from baseline in Troponin T
Serum concentration measured in ng/L. Higher values indicate myocardial injury
Time frame
3 yearsOther outcomes
1
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 yearsSponsors and contacts
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Source ClinicalTrials.gov