Phenotypic Manifestations of Hereditary ATTR Amyloidosis

Официальное название

Phenotypic Manifestations of Hereditary ATTR Amyloidosis Val50Met Variant in a Non-endemic Area. Descriptive Study

Обзор

This study focuses on hereditary transthyretin amyloidosis (ATTRv) with the Val50Met variant in a non endemic aerea

Подробное описание

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.

Вмешательства

• Другое 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
• Другое 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
• Диагностический тест Electrocardiogram (12-lead ECG)
  These interventions will be carried out in a time-controlled population within a family cluster of VAL50MET
• Диагностический тест 24-Hour Holter Monitoring
  These interventions will be carried out in a time-controlled population within a family cluster of VAL50MET
• Диагностический тест 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
• Другое 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
• Другое 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
• Другое COMPASS-31 (Composite Autonomic Symptom Score-31)
  These interventions will be carried out in a time-controlled population within a family cluster of VAL50MET
• Диагностический тест Electromyogram (EMG)
  These interventions will be carried out in a time-controlled population within a family cluster of VAL50MET
• Диагностический тест [99mTc]Tc-DPD scintigraphy
  These interventions will be carried out in a time-controlled population within a family cluster of VAL50MET

Первичные конечные точки

• Describe the phenotypic variables (preclinical, cardiological, neurological and mixed) in patients carrying the TTR Val50Met variant in a non-endemic population. [Срок оценки: 2 years]

Вторичные конечные точки (1)

• Explore minimum criteria considered for the onset of disease in patients carrying the Val50Met variant initially identified as asymptomatic. [Срок оценки: 2 years]

Критерии участия

Критерии включения

• All subjects between 20 and 70 years of age, carriers of the Val50Met variant

Критерии исключения

• Patients who refuse to participate.

Критерии приведены из реестра в оригинале (на английском). Окончательную оценку соответствия проводит исследовательский центр.

Здоровые добровольцы: Нет

Дизайн исследования

Модель наблюдения

Когортное

Центры проведения

Аргентина · 2 центра

• Hospital las Breñas 9 de Julio — Charata
• Hosptial Las Breñas — Charata

Публикации

• 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

Идентификаторы

NCT: NCT07124377 · hATTR Chaco Cluster

Первоисточники (государственные реестры)

• ClinicalTrials.gov (NIH, США)

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