Comprehensive Program for Hereditary Transthyretin Amyloidosis
试验速览
- 阶段
- 不适用
- 状态
- 招募中
- 发起方
- 入组人数
- 20
- 试验地点
- 1
- 主要终点
- Phenotypic classification
研究概览
简要总结
The Comprehensive Program for Hereditary Transthyretin Amyloidosis describes a prospective observational study focused on understanding hereditary transthyretin amyloidosis (ATTR), a progressive and potentially fatal condition marked by amyloid fibril deposits impacting multiple organs. The trial aims to characterize patient phenotypes, investigate factors affecting disease progression, and identify minimum criteria for disease onset. Conducted at Néstor Kirchner Hospital, the trial enrolls participants over 18 years old with confirmed pathogenic TTR variants. It includes thorough evaluations such as genetic testing sponsored by pharmaceutical companies, clinical assessments, and diverse diagnostic tests.
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
- 18 Years 至 —（Adult, Older Adult）
- 性别
- All
- 接受健康志愿者
- 否
入选标准
- •Participants with a pathogenic variant of the TTR gene (Hereditary Amyloidosis)
排除标准
- •wild-type TTR amyloidosis
结局指标
主要结局
Phenotypic classification
时间窗: 3 YEARS
1. Predominantly Cardiac Phenotype: Patients will present with abnormal electrocardiograms (ECG) due to rhythm disturbances, heart failure, or dyspnea. They will exhibit no more than mild neurological or gastrointestinal (GI) symptoms. Conditions such as erectile dysfunction, constipation, and carpal tunnel syndrome will be excluded from this phenotype. 2. Predominantly Neurological Phenotype: Patients will exhibit neurological or GI symptoms of any severity. They will not have abnormal ECGs due to rhythm disturbances, heart failure, or dyspnea. Neurological and GI symptoms will need to be continuous and definitively linked to amyloidosis. 3\]) Mixed Phenotype: Patients will present with abnormal ECGs due to rhythm disturbances, heart failure, or dyspnea. They will also have neurological or GI symptoms of any severity. These patients will not meet the criteria for a predominantly cardiac or neurological phenotype.
次要结局
- Change from baseline in New York Heart Association (NYHA) functional class(3 years)
- Change from baseline in 6-Minute Walk Test (6MWT) distance(3 years)
- Change from baseline in N-terminal pro-brain natriuretic peptide (Pro-BNP)(3 years)
- Change from baseline in Troponin T(3 years)
- Change from baseline in Microalbuminuria(3 years)
- Change from baseline in Left Ventricular Ejection Fraction(3 years)
- Change from baseline in Left Ventricular Wall Thickness(3 years)
- Change from baseline in diastolic dysfunction grade(3 years)
- Incidence of atrial fibrillation, atrioventricular block, or PR interval prolongation(3 years)
- Change from baseline in Coutinho/PND (Polyneuropathy Disability) score(3 years)
- Change from baseline in Neuropathy Impairment Score (NIS)(3 years)
- Change from baseline in COMPASS-31 total score(3 years)
- Change from baseline in Norfolk QoL-DN score(3 years)
- Change from baseline in RODS (Rasch-built Overall Disability Scale)(3 years)
- Change from baseline in Body Mass Index (BMI)(3 years)
研究者
Gisela Mariel Zanga
PRINCIPAL INVESTIGATOR
Hospital de Alta Complejidad en Red