Phenotypic Manifestations of Hereditary ATTR Amyloidosis Val50Met Variant in a Non-endemic Area. Descriptive Study
试验速览
- 阶段
- 不适用
- 状态
- Enrolling By Invitation
- 发起方
- 入组人数
- 57
- 试验地点
- 1
- 主要终点
- Describe the phenotypic variables (preclinical, cardiological, neurological and mixed) in patients carrying the TTR Val50Met variant in a non-endemic population.
研究概览
简要总结
This study focuses on hereditary transthyretin amyloidosis (ATTRv) with the Val50Met variant in a non endemic aerea
详细描述
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.
研究设计
- 研究类型
- Observational
- 观察模型
- Cohort
- 时间视角
- Prospective
入排标准
- 年龄范围
- 20 Years 至 —（Adult, Older Adult）
- 性别
- All
- 接受健康志愿者
- 否
入选标准
- •All subjects between 20 and 70 years of age, carriers of the Val50Met variant
排除标准
- •Patients who refuse to participate.
结局指标
主要结局
Describe the phenotypic variables (preclinical, cardiological, neurological and mixed) in patients carrying the TTR Val50Met variant in a non-endemic population.
时间窗: 2 years
The predominantly cardiac phenotype includes patients with abnormal ECG due to rhythm disturbance, heart failure, or dyspnea, minimal neurologic or GI symptoms, and diagnostic findings such as interventricular septum hypertrophy (\>12 mm), Holter monitoring, and \[99mTc\]Tc-DPD scintigraphy (Peugerini Score 1-3). The predominantly neurologic phenotype features patients with ongoing neurologic or GI symptoms definitively linked to ATTR amyloidosis, without abnormal ECG findings. Key assessments include autonomic neuropathy (orthostatic hypotension, sexual dysfunction), EMG, Norfolk QoL-DN (-4-246), COMPASS-31 (0-100), and NIS-LL (0-88). The mixed phenotype includes patients with abnormal ECG and neurologic or GI symptoms of any severity, failing to meet criteria for predominantly cardiac or neurologic phenotypes.
次要结局
- Explore minimum criteria considered for the onset of disease in patients carrying the Val50Met variant initially identified as asymptomatic.(2 years)
研究者
Mauricio Tomei
Principal Investigator
Hospital 9 de Julio de Las Breñas