PANDORA: PulmonAry hyperteNsion DiagnOsis: a National cohoRt reseArch
试验速览
- 阶段
- 不适用
- 状态
- 招募中
- 入组人数
- 139
- 试验地点
- 1
- 主要终点
- Time from Symptom Onset to Confirmed Diagnosis of Group 1 Pulmonary Arterial Hypertension
研究概览
简要总结
Understanding Delays in the Diagnosis of Pulmonary Arterial Hypertension and Rare Diseases in Brazil: A Multicenter Observational Study
--- Pulmonary arterial hypertension (PAH) is a rare, progressive, and life-threatening disease that affects the arteries of the lungs and the right side of the heart. Early diagnosis is essential to initiate appropriate treatment and improve patient outcomes. However, worldwide studies show that there is often a significant delay between the onset of symptoms and the final diagnosis. This delay may lead to disease progression and worse survival.
This multicenter observational study aims to understand the time from the first symptoms to the diagnosis of PAH and other rare diseases across several Brazilian reference centers. By analyzing medical records and patient journeys, the investigators intends to identify factors contributing to delayed diagnosis and potential opportunities for earlier detection.
The study includes adult patients diagnosed with PAH or other selected rare diseases within the last five years. The investigators will analyze time to diagnosis, number and type of physicians consulted, tests performed, and possible misdiagnoses. Our goal is to support the development of strategies that reduce diagnostic delay and improve access to specialized care for people living with rare diseases.
This study does not involve any intervention and poses no additional risk to participants, as it is based solely on retrospective data from medical records.
详细描述
Background and Rationale:
Pulmonary arterial hypertension (PAH) is a rare condition characterized by progressive elevation of pulmonary artery pressure, leading to right ventricular dysfunction and death if untreated. Despite advances in therapy and increasing awareness, several studies have consistently shown substantial diagnostic delays. For example, in the Australian DELAY study, the mean time from symptom onset to diagnosis of idiopathic PAH was nearly 4 years (47 ± 34 months), and patients typically visited multiple general practitioners and specialists before referral to a PAH center. In Latin America, similar findings were reported, with patients waiting an average of 1.6 years from first symptoms to diagnosis and over 50% receiving a misdiagnosis, such as asthma or heart failure, prior to PAH confirmation .
Delays are not limited to PAH. For many rare diseases, such as primary immunodeficiencies, sarcoidosis, and myositis, patients often experience a prolonged and complex journey to diagnosis. A recent qualitative study in Australia highlighted delays ranging from months to decades, with barriers including misattribution of symptoms, clinician bias, and fragmentation of care.
In Brazil, data on time to diagnosis for PAH and other rare diseases are limited. Understanding the diagnostic trajectory in the local context is critical to guide health policies and professional education.
Objectives:
研究设计
- 研究类型
- Observational
- 观察模型
- Cohort
- 时间视角
- Other
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
- •Availability of documented or estimated date of first symptom suggestive of PAH.
- •Availability of documented date of confirmed PAH diagnosis.
排除标准
- •Patients with pulmonary hypertension not classified as Group 1 (e.g., due to left heart disease, chronic lung disease, or chronic thromboembolic disease).
- •Patients with insufficient data to determine either the date of symptom onset or the date of confirmed diagnosis.
- •Patients diagnosed only clinically or by echocardiography, without confirmation by right heart catheterization.
结局指标
主要结局
Time from Symptom Onset to Confirmed Diagnosis of Group 1 Pulmonary Arterial Hypertension
时间窗: From date of first reported symptom potentially related to PAH until the date of confirmed diagnosis by right heart catheterization, assessed up to 60 months.
This outcome measures the time interval (in months) between the patient's first reported symptom potentially related to pulmonary arterial hypertension and the date of confirmed diagnosis by right heart catheterization. Data will be collected through retrospective review of medical records and/or prospectively documented clinical follow-up.
次要结局
- Number of Physicians Consulted Before Diagnosis(From first reported symptom potentially related to PAH until confirmed diagnosis by right heart catheterization, assessed up to 60 months.)
- Number of Misdiagnoses Prior to Final PAH Diagnosis(From first reported symptom potentially related to PAH until confirmed diagnosis by right heart catheterization, assessed up to 60 months.)
- Functional Class at Diagnosis(At baseline (i.e., at the time of confirmed diagnosis by right heart catheterization).)
- Time from First Medical Contact to Diagnosis(From first reported symptom potentially related to PAH until confirmed diagnosis by right heart catheterization, assessed up to 60 months.)
研究者
Caio Júlio César dos Santos Fernandes
Principal Investigator
University of Sao Paulo General Hospital