Phenotypic Manifestations of Hereditary ATTR Amyloidosis
NCT ID: NCT07124377
Last Updated: 2025-08-15
Study Results
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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ENROLLING_BY_INVITATION
57 participants
OBSERVATIONAL
2024-09-01
2026-03-01
Brief Summary
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Detailed Description
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Conditions
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Study Design
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COHORT
PROSPECTIVE
Study Groups
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Carriers of the Val50Met variant
Patients with positive genetic test for patogenic variant of the TTR gene
A complete physical examination of all body systems, including height and body weight
These interventions will be carried out in a time-controlled population within a family cluster of VAL50MET
Neurological examination includes motor strength testing; sensory testing with pinprick, light touch, temperature, and proprioception; deep tendon reflexes; and gait assessment.
These interventions will be carried out in a time-controlled population within a family cluster of VAL50MET
Electrocardiogram (12-lead ECG)
These interventions will be carried out in a time-controlled population within a family cluster of VAL50MET
24-Hour Holter Monitoring
These interventions will be carried out in a time-controlled population within a family cluster of VAL50MET
Color Doppler echocardiography with "two-dimensional strain" (longitudinal strain)
These interventions will be carried out in a time-controlled population within a family cluster of VAL50MET
The Norfolk Quality of Life-Diabetic Neuropathy (QOL-DN)
These interventions will be carried out in a time-controlled population within a family cluster of VAL50MET
questionnaire, the NIS-LL (Neuropathy Impairment Score in the Lower Limbs)
These interventions will be carried out in a time-controlled population within a family cluster of VAL50MET
COMPASS-31 (Composite Autonomic Symptom Score-31)
These interventions will be carried out in a time-controlled population within a family cluster of VAL50MET
Electromyogram (EMG)
These interventions will be carried out in a time-controlled population within a family cluster of VAL50MET
[99mTc]Tc-DPD scintigraphy
These interventions will be carried out in a time-controlled population within a family cluster of VAL50MET
Laboratory assessments
Laboratory assessments include blood and urine sample collection for serum chemistry, hematology, and urinalysis, with specific biomarker analyses (troponin T, NT-proBNP, Kappa, and Lambda light chains
Interventions
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A complete physical examination of all body systems, including height and body weight
These interventions will be carried out in a time-controlled population within a family cluster of VAL50MET
Neurological examination includes motor strength testing; sensory testing with pinprick, light touch, temperature, and proprioception; deep tendon reflexes; and gait assessment.
These interventions will be carried out in a time-controlled population within a family cluster of VAL50MET
Electrocardiogram (12-lead ECG)
These interventions will be carried out in a time-controlled population within a family cluster of VAL50MET
24-Hour Holter Monitoring
These interventions will be carried out in a time-controlled population within a family cluster of VAL50MET
Color Doppler echocardiography with "two-dimensional strain" (longitudinal strain)
These interventions will be carried out in a time-controlled population within a family cluster of VAL50MET
The Norfolk Quality of Life-Diabetic Neuropathy (QOL-DN)
These interventions will be carried out in a time-controlled population within a family cluster of VAL50MET
questionnaire, the NIS-LL (Neuropathy Impairment Score in the Lower Limbs)
These interventions will be carried out in a time-controlled population within a family cluster of VAL50MET
COMPASS-31 (Composite Autonomic Symptom Score-31)
These interventions will be carried out in a time-controlled population within a family cluster of VAL50MET
Electromyogram (EMG)
These interventions will be carried out in a time-controlled population within a family cluster of VAL50MET
[99mTc]Tc-DPD scintigraphy
These interventions will be carried out in a time-controlled population within a family cluster of VAL50MET
Laboratory assessments
Laboratory assessments include blood and urine sample collection for serum chemistry, hematology, and urinalysis, with specific biomarker analyses (troponin T, NT-proBNP, Kappa, and Lambda light chains
Eligibility Criteria
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Inclusion Criteria
Exclusion Criteria
20 Years
ALL
No
Sponsors
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Instituto de Cardiología de Corrientes
OTHER
Hospital 9 de Julio de Las Breñas
OTHER_GOV
Responsible Party
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Mauricio Tomei
Principal Investigator
Principal Investigators
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Mauricio MT Tomei, MD
Role: PRINCIPAL_INVESTIGATOR
Hospital 9 de Julio de Las Breñas
Locations
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Hospital las Breñas 9 de Julio
Charata, Chaco Province, Argentina
Countries
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References
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Saez MS, Aguirre MA, Perez de Arenaza D, Sorroche P, Nucifora E, Posadas Martinez ML. Epidemiology of variant transthyretin amyloidosis at a reference center in Argentina. Mol Genet Genomic Med. 2021 Nov;9(11):e1812. doi: 10.1002/mgg3.1812. Epub 2021 Oct 20.
Conceicao I, Damy T, Romero M, Galan L, Attarian S, Luigetti M, Sadeh M, Sarafov S, Tournev I, Ueda M. Early diagnosis of ATTR amyloidosis through targeted follow-up of identified carriers of TTR gene mutations. Amyloid. 2019 Mar;26(1):3-9. doi: 10.1080/13506129.2018.1556156. Epub 2019 Feb 22.
Maurer MS, Bokhari S, Damy T, Dorbala S, Drachman BM, Fontana M, Grogan M, Kristen AV, Lousada I, Nativi-Nicolau J, Cristina Quarta C, Rapezzi C, Ruberg FL, Witteles R, Merlini G. Expert Consensus Recommendations for the Suspicion and Diagnosis of Transthyretin Cardiac Amyloidosis. Circ Heart Fail. 2019 Sep;12(9):e006075. doi: 10.1161/CIRCHEARTFAILURE.119.006075. Epub 2019 Sep 4.
Gentile L, Coelho T, Dispenzieri A, Conceicao I, Waddington-Cruz M, Kristen A, Wixner J, Diemberger I, Gonzalez-Moreno J, Cariou E, Maurer MS, Plante-Bordeneuve V, Garcia-Pavia P, Tournev I, Gonzalez-Costello J, Duarte AG, Grogan M, Mazzeo A, Chapman D, Gupta P, Glass O, Amass L; THAOS investigators. A 15-year consolidated overview of data in over 6000 patients from the Transthyretin Amyloidosis Outcomes Survey (THAOS). Orphanet J Rare Dis. 2023 Nov 10;18(1):350. doi: 10.1186/s13023-023-02962-5.
Other Identifiers
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hATTR Chaco Cluster
Identifier Type: -
Identifier Source: org_study_id
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