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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.
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| Label | Type | Description | Intervention Names |
|---|---|---|---|
| Participants over 18 years of age diagnosed with hereditary transthyretin amyloidosis | 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 . |
|
| Name | Type | Description | Arm Group Labels | Other Names |
|---|---|---|---|---|
| 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 |
| Measure | Description | Time Frame |
|---|---|---|
| Phenotypic classification |
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. | 3 YEARS |
| Measure | Description | Time Frame |
|---|---|---|
| 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). | 3 years |
| Change from baseline in 6-Minute Walk Test (6MWT) distance |
| Measure | Description | Time Frame |
|---|---|---|
| Minimum criteria | To explore minimum criteria for disease onset in patients initially considered asymptomatic:
|
Inclusion Criteria:
-Participants with a pathogenic variant of the TTR gene (Hereditary Amyloidosis)
Exclusion Criteria:
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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.
| Name | Role | Phone | Extension | |
|---|---|---|---|---|
| Gisela Zanga, MD | Contact | +5491156074899 | gzanga84@hotmail.com |
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| Facility | Status | City | State | ZIP | Country | Contacts |
|---|---|---|---|---|---|---|
| Hospital Cuenca Alta de Cañuelas | Recruiting | Canuelas | Buenos Aires | 1814 | Argentina |
| PubMed Identifier | Type | Citation | Retractions |
|---|---|---|---|
| 30365625 | Background | Pinto MV, Barreira AA, Bulle AS, Freitas MRG, Franca MC Jr, Gondim FAA, Marrone CD, Marques W Jr, Nascimento OJM, Rotta FT, Pupe C, Waddington-Cruz M. Brazilian consensus for diagnosis, management and treatment of transthyretin familial amyloid polyneuropathy. Arq Neuropsiquiatr. 2018 Sep;76(9):609-621. doi: 10.1590/0004-282X20180094. |
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| ID | Term |
|---|---|
| D028226 | Amyloidosis, Familial |
| D000686 | Amyloidosis |
| ID | Term |
|---|---|
| D008661 | Metabolism, Inborn Errors |
| D030342 | Genetic Diseases, Inborn |
| D009358 | Congenital, Hereditary, and Neonatal Diseases and Abnormalities |
| D008659 | Metabolic Diseases |
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|
Distance walked in meters will be measured according to ATS guidelines. Lower values indicate reduced functional capacity |
| 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. | 3 years |
| Change from baseline in Troponin T | Serum concentration measured in ng/L. Higher values indicate myocardial injury | 3 years |
| Change from baseline in Microalbuminuria | Urinary albumin excretion measured in mg/24h. Higher values indicate worse renal involvement. | 3 years |
| Change from baseline in Left Ventricular Ejection Fraction | Ejection fraction (%) measured by echocardiography. Lower values indicate worse cardiac function | 3 years |
| Change from baseline in Left Ventricular Wall Thickness | Wall thickness measured in millimeters by echocardiography. Higher values indicate worse disease progression. | 3 years |
| Change from baseline in diastolic dysfunction grade | Diastolic dysfunction assessed by echocardiography following ASE guidelines. Higher grade indicates worse dysfunction. | 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). | 3 years |
| Change from baseline in Coutinho/PND (Polyneuropathy Disability) score | Score range 0-IV; higher score indicates greater disability | 3 years |
| Change from baseline in Neuropathy Impairment Score (NIS) | Total score range 0-244; higher values indicate worse neuropathy. | 3 years |
| Change from baseline in COMPASS-31 total score | Questionnaire score range 0-100; higher values indicate worse autonomic symptoms. | 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. | 3 years |
| Change from baseline in RODS (Rasch-built Overall Disability Scale) | Score range 0-48; lower values indicate greater disability | 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. | 3 years |
| 3 years |
| D009750 | Nutritional and Metabolic Diseases |
| D057165 | Proteostasis Deficiencies |