Phenotyping and Characterization of wtATTR-CM (TRACE 1)
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Простыми словами
Автоматическая сводка по структурированным данным реестра. Она помогает сориентироваться, но не заменяет официальный протокол или оценку врача.
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- Это наблюдательное исследование: исследуемое лечение участникам по протоколу не назначают.
- Кому может быть актуально
- Состояния в реестре: Transthyretin Amyloidosis, Transthyretin Amyloid Cardiomyopathy, Wild-Type Transthyretin-Related (ATTR)Amyloidosis, Quality of Life. Базовые параметры: от 18 лет · Все.
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Официальное название
Phenotyping and Characterization of Danish Wild-type Transthyretin Amyloidosis Cardiomyopathy Patients: A Cross-sectional Study
Обзор
Descriptive cross-sectional study on 100 consecutive ATTRwt-CM patients reflecting all NAC stages aiming primarily to investigate ATTRwt-CM patient's quality of life (QoL) measures and their relation to ATTRwt-CM severity. Secondarily aiming to investigate the possibility to measure misTTR and fragTTR in plasma and urine and to detect fragTTR in endomyocardial biopsies from ATTRwt-CM patients. To investigate whether misTTR and fragTTR levels are correlated with ATTRwt-CM severity.
Подробное описание
Hypothesis:
1. We hypothesize that more severe wild-type amyloidosis cardiomyopathy (ATTRwt-CM) according to clinical, biochemical, and diagnostic imaging parameters are correlated with worse quality of life (QoL) for patients. 2. We expect misfolded (misTTR) and/or fragmented transthyretin (fragTTR) to be measurable in plasma and/or urine and fragTTR to be detectable in endomyocardial biopsies from patients with ATTRwt-CM. We expect the values of misTTR and fragTTR to be correlated with the severity of ATTRwt-CM according to clinical, biochemical, and diagnostic imaging parameters. We expect the level of fragTTR from endomyocardial biopsies to be correlated with plasma levels of fragTTR.
Method:
ATTRwt-CM patients: Prospective inclusion of 100 consecutive ATTRwt-CM patients reflecting all NAC stages (40 patients from NAC disease stage 1, 40 patients from NAC disease stage II and 20 patients from NAC disease stage III). Patients will be recruited from the out-patient amyloidosis clinic at Aarhus University hospital. Patients will be thoroughly clinically assessed.
Control patients:
A control cohort of 20 age- and gender-matched heart-healthy patients will be included for comparison of total/mis-/fragTTR values.
The investigating into QoL, bio markers and the analyses on cardiac MR imaging markers will hopefully provide us with tools to evaluate and monitor disease progression and response to treatment.
Первичные конечные точки
- Investigation of cardiac amyloidosis severity in patients with Wild-type Transthyretin Amyloidosis Cardiomyopathy. [Срок оценки: Through study completion, 2 years.]
- Investigation of the relations between cardiac amyloid severity and patient quality of life in patients with Wild-type Transthyretin Amyloidosis Cardiomyopathy. [Срок оценки: Through study completion, 2 years.]
- Assessment of transthyretin and pathogenic fragments and relation to cardiac amyloid severity in patients with Wild-type Transthyretin Amyloidosis Cardiomyopathy [Срок оценки: Through study completion, 2 years.]
Вторичные конечные точки (1)
- Validation of a new amyloid specific questionnaire (ATTR-QoL) in comparison with Kansas City Cardiomyopathy Questionnaire (KCCQ) [Срок оценки: Through study completion, 2 years.]
Критерии участия
Group 1: wtATTR-CM patients
Критерии включения
- Patients > 18 years diagnosed with ATTRwt-CM by:
- endomyocardial biopsy
- DPD scintigraphy with Perugini grade 2-3 where variant amyloidosis is ruled out due to genetic testing.
- Informed oral and written consent
Критерии исключения
- AL amyloidosis (light-chain amyloidosis).
- Myelomatosis
- Waldenström macroglobulinemia
Group 2: Control group
Критерии включения
- Patients > 18 years
- Informed oral and written consent
Критерии исключения
- Known cardiovascular disease including ischemic heart disease, heart failure, atrial fibrillation, presence of a pacemaker, or malignant hypertension. Well-controlled hypertension is acceptable.
- Suspicion of cardiac amyloidosis assessed through clinical history, physical examination, ECG, and echocardiography focusing on "red flags":
- Echocardiography with:
- Myocardial hypertrophy (septum >11 mm)
- Apical sparing in LV-GLS
- Infiltrative changes in the right ventricle free wall, thickened atrioventricular valves, or thickened atrial septum
- Symptoms of polyneuropathy
- Low voltage on ECG or discrepancy between left ventricular thickness and ECG amplitude indicative of low voltage
- Atrioventricular block (AV block)
- Bilateral carpal tunnel syndrome
- Surgery for spinal stenosis
- Elevated troponin I or NT-pro-BNP
Критерии приведены из реестра в оригинале (на английском). Окончательную оценку соответствия проводит исследовательский центр.
Здоровые добровольцы: Да
Дизайн исследования
- Модель наблюдения
- Когортное
Центры проведения
Дания · 1 центр
- Aarhus University Hospital — Aarhus
Идентификаторы
NCT: NCT06291805 · 1-10-72-189-23