Assessment of the TGF-beta Pathway and Micro-RNA in Pediatric Pulmonary Arterial Hypertension

NCT ID: NCT04489251

Last Updated: 2021-11-22

Study Results

Results pending

The study team has not published outcome measurements, participant flow, or safety data for this trial yet. Check back later for updates.

Basic Information

Get a concise snapshot of the trial, including recruitment status, study phase, enrollment targets, and key timeline milestones.

Recruitment Status

UNKNOWN

Total Enrollment

40 participants

Study Classification

OBSERVATIONAL

Study Start Date

2020-07-01

Study Completion Date

2023-01-01

Brief Summary

Review the sponsor-provided synopsis that highlights what the study is about and why it is being conducted.

This is a prospective pilot study to assess the plasma levels of particular proteins involved in the transforming growth factor beta (TGF-β) pathway and its down stream regulators, CHIP, as well as micro RNA molecules in subjects with pulmonary arterial hypertension (PAH) and compare them to control subjects without PAH to see if they can be used as a diagnostic or prognostic marker of PAH and how this compares to other diagnostic biomarkers N-terminal pro-natriuretic peptide (NT Pro-BNP) and C-reactive protein (CRP).

Detailed Description

Dive into the extended narrative that explains the scientific background, objectives, and procedures in greater depth.

Aim 1: This study will correlate proteins in the TGF- β signaling pathway and micro RNA levels with invasive (catheterization) and non-invasive (echocardiography) measurements of pulmonary artery pressures to assess for the presence and severity of PAH and compare these measurements to the established biomarkers of NT Pro BNP and CRP levels.

Hypothesis 1: Plasma levels of proteins of the TGF-β pathway; bone morphogenic protein (BMP) 2, 4, 6, 7, 9 and 10 along with activin A and TGF-β1 protein as well as CHIP (carboxyl-terminus of Hsp70-intracting protein), an enzyme that regulates the activations and exports of TGF- β to the nucleus will be significantly different in subjects with PH over control subjects.

Hypothesis 2: Plasma levels of proteins in the TGF- β pathway; BMP 2, 4, 6, 7, 9 and 10 along with activin A and TGF-β1 protein as well as CHIP will show better correlation with the presence of PAH and its severity than NT-Pro BNP and CRP levels.

Hypothesis 3: The micro-RNA profiles in plasma will be significantly different in subjects with PAHPH over control subjects.

Aim 2: To correlate protein/micro-RNA levels with clinical status in PAH subjects as assessed by functional status, exercise testing, and PAH drug regimen to determine if they can correlate with disease severity.

Hypothesis 1: Clinical findings in PAH patients will correlate with disease severity and study proteins and micro-RNA levels better than established biomarkers.

Aim 3: To correlate evidence of genetic abnormalities through whole exome sequencing especially in regions known or suspected to cause PAH (e.g. BMPR2, ENG, and ALK1 mutations), within the TGF-β pathway or lung development with the tested protein/micro-RNA levels.

Hypothesis 1: Genetic evaluation of patients with PAH will show abnormalities within the TGF-β pathway or lung development.

Conditions

See the medical conditions and disease areas that this research is targeting or investigating.

Pulmonary Arterial Hypertension

Keywords

Explore important study keywords that can help with search, categorization, and topic discovery.

pulmonary arterial hypertension TGF-beta pathway microRNA

Study Design

Understand how the trial is structured, including allocation methods, masking strategies, primary purpose, and other design elements.

Observational Model Type

CASE_CONTROL

Study Time Perspective

PROSPECTIVE

Study Groups

Review each arm or cohort in the study, along with the interventions and objectives associated with them.

PH subjects

* Pediatric subjects ages 2-17 years
* Subjects undergoing a clinically indicated cardiac catheterization.
* Subjects with proven or being evaluated for pulmonary hypertension in WHO classification group 1 or 3†
* Subjects will be categorized as PAH subjects if they meet the hemodynamic criteria: pulmonary artery pressure \>20mmHg, pulmonary vascular resistance index \>3 Woods units\*m2, and wedge pressures \<15mmHg.

Protein Elisa analysis, microRNA analysis, whole exome sequencing

Intervention Type DIAGNOSTIC_TEST

ELISA Testing Procedure: The circulating levels of BMP 2, 4, 6, 7, 9 and 10, together with activin A and TGF-β as well as CHIP will be measured using streptavidin ELISA assays.

Micro-RNA analysis: From 100µL of plasma, we will prepare small RNA libraries using TruSeq Small RNA Sample Preparation kit (Illumina Inc).

TGF-B mutation evaluation: Blood from subjects with PH will also be analyzed for known genetic mutations in TGF-B pathway using whole exome sequencing.

Control subjects

* Pediatric subjects ages 2-17 years
* Subjects undergoing a clinically indicated cardiac catheterization.
* Subjects can be categorized as control subjects if they do not have PH on catheterization and do not meet any exclusion criteria.

Protein Elisa analysis, microRNA analysis, whole exome sequencing

Intervention Type DIAGNOSTIC_TEST

ELISA Testing Procedure: The circulating levels of BMP 2, 4, 6, 7, 9 and 10, together with activin A and TGF-β as well as CHIP will be measured using streptavidin ELISA assays.

Micro-RNA analysis: From 100µL of plasma, we will prepare small RNA libraries using TruSeq Small RNA Sample Preparation kit (Illumina Inc).

TGF-B mutation evaluation: Blood from subjects with PH will also be analyzed for known genetic mutations in TGF-B pathway using whole exome sequencing.

Interventions

Learn about the drugs, procedures, or behavioral strategies being tested and how they are applied within this trial.

Protein Elisa analysis, microRNA analysis, whole exome sequencing

ELISA Testing Procedure: The circulating levels of BMP 2, 4, 6, 7, 9 and 10, together with activin A and TGF-β as well as CHIP will be measured using streptavidin ELISA assays.

Micro-RNA analysis: From 100µL of plasma, we will prepare small RNA libraries using TruSeq Small RNA Sample Preparation kit (Illumina Inc).

TGF-B mutation evaluation: Blood from subjects with PH will also be analyzed for known genetic mutations in TGF-B pathway using whole exome sequencing.

Intervention Type DIAGNOSTIC_TEST

Eligibility Criteria

Check the participation requirements, including inclusion and exclusion rules, age limits, and whether healthy volunteers are accepted.

Inclusion Criteria

* Pediatric subjects ages 2-17 years
* Subjects undergoing a clinically indicated cardiac catheterization.
* Subjects with proven or being evaluated for pulmonary hypertension in WHO classification group 1 or 3†
* Subjects will be categorized as PAH subjects if they meet the hemodynamic criteria: pulmonary artery pressure \>20mmHg, pulmonary vascular resistance index \>3 Woods units\*m2, and wedge pressures \<15mmHg.

Exclusion Criteria

\-
Minimum Eligible Age

2 Years

Maximum Eligible Age

17 Years

Eligible Sex

ALL

Accepts Healthy Volunteers

No

Sponsors

Meet the organizations funding or collaborating on the study and learn about their roles.

Medical College of Wisconsin

OTHER

Sponsor Role lead

Responsible Party

Identify the individual or organization who holds primary responsibility for the study information submitted to regulators.

Edward Kirkpatrick

Associate Professor

Responsibility Role PRINCIPAL_INVESTIGATOR

Principal Investigators

Learn about the lead researchers overseeing the trial and their institutional affiliations.

Edward C Kirkpatrick

Role: PRINCIPAL_INVESTIGATOR

Children's Hospital and Health System Foundation, Wisconsin

Locations

Explore where the study is taking place and check the recruitment status at each participating site.

Children's Hospital of Wisconsin

Milwaukee, Wisconsin, United States

Site Status RECRUITING

Countries

Review the countries where the study has at least one active or historical site.

United States

Central Contacts

Reach out to these primary contacts for questions about participation or study logistics.

Edward C Kirkpatrick, DO

Role: CONTACT

Phone: 414-266-2380

Email: [email protected]

Nicholas Peterson, BA

Role: CONTACT

Phone: 414-266-1753

Email: [email protected]

Facility Contacts

Find local site contact details for specific facilities participating in the trial.

Edward C Kirkpatrick, DO

Role: primary

Nicholas Peterson, BA

Role: backup

Other Identifiers

Review additional registry numbers or institutional identifiers associated with this trial.

1492809

Identifier Type: -

Identifier Source: org_study_id