PulmonAry hyperteNsion DiagnOsis: a National cohoRt reseArch

NCT06998329 | Recruiting

• 1 other identifier: SGP26817
• Study Type: observational
• Target: 139
• Locations: 1 country
• Sites: 1

Brief Summary

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.

Conditions

Pulmonary Arterial Hypertension (PAH); Pulmonary Arterial Hypertension (PAH) (WHO Group 1 PH); Pulmonary Arterial Hypertension

Keywords

Pulmonary Hypertension; Diagnostic Delay; Right Heart Catheterization; Early Diagnosis; Diagnostic Journey; Risk Stratification; Differential Diagnoses

Outcome Measures

Primary Outcomes (1)

• Time from Symptom Onset to Confirmed Diagnosis of Group 1 Pulmonary Arterial Hypertension

  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.

  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.

Secondary Outcomes (4)

• 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.

Study Arms (1)

Patients with Pulmonary Arterial Hypertension

This group includes adult patients diagnosed with Group 1 pulmonary arterial hypertension (PAH), according to international hemodynamic criteria confirmed by right heart catheterization. All patients were diagnosed within the past five years and are followed at participating reference centers in Brazil. This is a non-interventional, observational study based on retrospective and/or prospective data from medical records. No treatment or diagnostic procedure will be administered as part of the study.

Other: There will be no intervention

Interventions

There will be no intervention OTHER

There will be no intervention

Patients with Pulmonary Arterial Hypertension

Eligibility Criteria

• Age: 18 Years+
• Sex: all
• Healthy Volunteers: No
• Age Groups: Adult (18-64), Older Adult (65+)
• Sampling Method: Non-Probability Sample

Study Population

The study population consists of adult patients diagnosed with Group 1 Pulmonary Arterial Hypertension (PAH), confirmed by right heart catheterization, who are followed at specialized pulmonary hypertension referral centers in Brazil. Eligible participants must have documented or estimated date of symptom onset and a recorded date of confirmed diagnosis. The study includes patients from diverse geographic regions and healthcare settings to reflect real-world diagnostic practices.

You may qualify if:

• Availability of documented or estimated date of first symptom suggestive of PAH.
• Availability of documented date of confirmed PAH diagnosis.

You may not qualify if:

• 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.

Sponsors & Collaborators

• University of Sao Paulo General Hospital: lead

Study Sites (1)

InCor - Universidade de São Paulo

São Paulo, São Paulo, 05048000, Brazil

RECRUITING

MeSH Terms

Conditions

Pulmonary Arterial Hypertension; Hypertension, Pulmonary; Disease

Condition Hierarchy (Ancestors)

Lung Diseases; Respiratory Tract Diseases; Hypertension; Vascular Diseases; Cardiovascular Diseases; Pathologic Processes; Pathological Conditions, Signs and Symptoms

Central Study Contacts

Caio Fernandes, PhD

CONTACT

+55 11 2661-1548; caio.cesar@hc.fm.usp.br

Study Design

• Study Type: observational
• Observational Model: COHORT
• Time Perspective: OTHER
• Sponsor Type: OTHER
• Responsible Party: PRINCIPAL INVESTIGATOR
• PI Title: Principal Investigator

Study Record Dates

• First Submitted: May 13, 2025
• First Posted: May 31, 2025
• Study Start: July 7, 2025
• Primary Completion (Estimated): July 1, 2027
• Study Completion (Estimated): December 1, 2027
• Last Updated: September 30, 2025

Record last verified: 2025-09

Data Sharing

• IPD Sharing: Will not share

Locations

BR (1)