Comprehensive Program for Hereditary Transthyretin Amyloidosis

NCT ID: NCT07213297

Last Updated: 2025-10-08

Study Results

Results pending

The study team has not published outcome measurements, participant flow, or safety data for this trial yet. Check back later for updates.

Basic Information

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Recruitment Status

NOT_YET_RECRUITING

Total Enrollment

20 participants

Study Classification

OBSERVATIONAL

Study Start Date

2025-10-01

Study Completion Date

2028-12-01

Brief Summary

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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.

Detailed Description

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Conditions

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Amyloidosis in Transthyretin (TTR) Amyloidosis, Familial

Study Design

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Observational Model Type

COHORT

Study Time Perspective

PROSPECTIVE

Study Groups

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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 .

clinical assessments and complementary examinations

Intervention Type 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

Interventions

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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

Intervention Type OTHER

Eligibility Criteria

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Inclusion Criteria

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

Exclusion Criteria

* wild-type TTR amyloidosis
Minimum Eligible Age

18 Years

Eligible Sex

ALL

Accepts Healthy Volunteers

No

Sponsors

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Hospital de Alta Complejidad en Red

OTHER

Sponsor Role lead

Responsible Party

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Gisela Mariel Zanga

PRINCIPAL INVESTIGATOR

Responsibility Role PRINCIPAL_INVESTIGATOR

Locations

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Hospital Cuenca Alta de Cañuelas

Cañuelas, Buenos Aires, Argentina

Site Status

Countries

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Argentina

Central Contacts

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Gisela Zanga, MD

Role: CONTACT

+5491156074899

References

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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.

Reference Type BACKGROUND
PMID: 30365625 (View on PubMed)

Other Identifiers

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ESCAN

Identifier Type: -

Identifier Source: org_study_id

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