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Recruiting NCT07213297

Comprehensive Program for Hereditary Transthyretin Amyloidosis

— Observational Amyloidosis in Transthyretin (TTR) Amyloidosis, Familial

For patients and families

In plain language

An automatic summary of structured registry data. It is an orientation aid, not a substitute for the official protocol or a physician assessment.

What is being studied
The protocol lists: clinical assessments and complementary examinations.
Who it may be relevant to
Registry conditions: Amyloidosis in Transthyretin (TTR), Amyloidosis, Familial. Basic parameters: from 18 years · All.
What needs checking
Age, condition and sex are only basic indicators. Prior treatment, laboratory values and other mandatory requirements appear in the eligibility criteria below.
Where it takes place
Argentina
Next step
Save the trial, show it to the treating physician, and confirm current recruitment with the study center. Costs, documents and travel →

Unsure about the terms? Read our patient guide →

Overview

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.

Interventions

  • 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. Electro

Primary outcome measures

  • Phenotypic classification [Time frame: 3 YEARS]
Secondary outcome measures (12)
  • Change from baseline in New York Heart Association (NYHA) functional class [Time frame: 3 years]
  • Change from baseline in 6-Minute Walk Test (6MWT) distance [Time frame: 3 years]
  • Change from baseline in N-terminal pro-brain natriuretic peptide (Pro-BNP) [Time frame: 3 years]
  • Change from baseline in Troponin T [Time frame: 3 years]
  • Change from baseline in Microalbuminuria [Time frame: 3 years]
  • Change from baseline in Left Ventricular Ejection Fraction [Time frame: 3 years]
  • Change from baseline in Left Ventricular Wall Thickness [Time frame: 3 years]
  • Change from baseline in diastolic dysfunction grade [Time frame: 3 years]
  • Incidence of atrial fibrillation, atrioventricular block, or PR interval prolongation [Time frame: 3 years]
  • Change from baseline in Coutinho/PND (Polyneuropathy Disability) score [Time frame: 3 years]
  • Change from baseline in Neuropathy Impairment Score (NIS) [Time frame: 3 years]
  • Change from baseline in COMPASS-31 total score [Time frame: 3 years]

Eligibility criteria

Inclusion criteria

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

Exclusion criteria

  • wild-type TTR amyloidosis

Criteria are shown verbatim from the registry (in English). Final eligibility is always assessed by the study center.

Healthy volunteers: No

Study design

Observational model
Cohort

Study locations

Argentina · 1 center
  • Hospital Cuenca Alta de Cañuelas — Canuelas

Publications

  • 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. PMID 30365625

Identifiers

NCT: NCT07213297 · ESCAN

Primary sources (government registries)

View this study on ClinicalTrials.gov ↗