Recruiting NCT07124377
Phenotypic Manifestations of Hereditary ATTR Amyloidosis
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: A complete physical examination of all body systems, including height and body weight, Neurological examination includes motor strength testing; sensory testing with pinprick, light touch, temperature, and proprioception; deep tendon reflexes; and gait assessment., Electrocardiogram (12-lead ECG), 24-Hour Holter Monitoring.
- Who it may be relevant to
- Registry conditions: Hereditary Amyloidosis, Transthyretin-Related. Basic parameters: from 20 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 →
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Official title
Phenotypic Manifestations of Hereditary ATTR Amyloidosis Val50Met Variant in a Non-endemic Area. Descriptive Study
Overview
This study focuses on hereditary transthyretin amyloidosis (ATTRv) with the Val50Met variant in a non endemic aerea
Detailed description
We aim to describe the phenotypic variables including preclinical, cardiological, neurological, and mixed manifestations in patients carrying the Val50Met variant. Our goal is to identify early disease onset criteria in initially asymptomatic patients, enhancing early detection and treatment strategies. Participants will undergo various clinical examinations and tests to gather comprehensive data.
Interventions
- Other 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 - Other 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 - Diagnostic test Electrocardiogram (12-lead ECG)
These interventions will be carried out in a time-controlled population within a family cluster of VAL50MET - Diagnostic test 24-Hour Holter Monitoring
These interventions will be carried out in a time-controlled population within a family cluster of VAL50MET - Diagnostic test 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 - Other 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 - Other 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 - Other COMPASS-31 (Composite Autonomic Symptom Score-31)
These interventions will be carried out in a time-controlled population within a family cluster of VAL50MET - Diagnostic test Electromyogram (EMG)
These interventions will be carried out in a time-controlled population within a family cluster of VAL50MET - Diagnostic test [99mTc]Tc-DPD scintigraphy
These interventions will be carried out in a time-controlled population within a family cluster of VAL50MET
Primary outcome measures
- Describe the phenotypic variables (preclinical, cardiological, neurological and mixed) in patients carrying the TTR Val50Met variant in a non-endemic population. [Time frame: 2 years]
Secondary outcome measures (1)
- Explore minimum criteria considered for the onset of disease in patients carrying the Val50Met variant initially identified as asymptomatic. [Time frame: 2 years]
Eligibility criteria
Inclusion criteria
- All subjects between 20 and 70 years of age, carriers of the Val50Met variant
Exclusion criteria
- Patients who refuse to participate.
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 · 2 centers
- Hospital las Breñas 9 de Julio — Charata
- Hosptial Las Breñas — Charata
Publications
- 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. PMID 34668655
- 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. PMID 30793974
- 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. PMID 31480867
- 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 O PMID 37946256
Identifiers
NCT: NCT07124377 · hATTR Chaco Cluster