Pediatric Pulmonary Hypertension Network (PPHNet) Informatics Registry (PPHNet)

Patients are being asked to be in this research study because medical researchers hope that by gathering information about a large number of children with pulmonary hypertension over time, their understanding of the disease process will increase and lead to better treatment. Investigators believe that pulmonary hypertension in children is different than pulmonary hypertension in adults and this study will help us understand those differences.

Study Overview

• Status: Recruiting
• Conditions: Pulmonary Arterial Hypertension; Pulmonary Vascular Disease

Detailed Description

Pulmonary Hypertension (PH) is a syndrome characterized by vasoconstriction and abnormal growth and function of endothelial and smooth muscle cells and other components within the pulmonary vessels, which leads to elevation of the pulmonary artery pressure. PH may be idiopathic (primary) without any known cause. Some cases of PH are familial. PH may also be secondary to a specific disease process such as portal hypertension, congenital heart disease, chronic lung disease, thromboembolic disease, connective tissue disease, human immunodeficiency virus (HIV), and use of anorexigens. Left untreated, PH is often progressive and fatal. There is no cure for PH. Therapy focuses upon treatment of secondary causes if present, and reduction of the pulmonary artery pressure through medical therapy. There have been many new developments within the past few years in the management of patients with PH. While there is no cure for PH early detection and treatment are important for survival of patients. Limited data is available that describes the etiologies, clinical course and prognosis of pediatric pulmonary hypertension.

Objectives

Aim 1: Clinical Research

1. To provide a mechanism to store information about newborns, infants and children with PH;
2. To determine the incidence and natural history of the various etiologies of pediatric PH;
3. To define the investigator current diagnostic and therapeutic approaches to the diverse conditions associated with pediatric PH;
4. To determine the response of children with PH to chronic therapies.

Aim 2: Research Infrastructure To create a robust scalable data architecture, to combine traditional registry data, electronic Health Record (EHR), and PRO (Patient Reported Outcome) data in a single resource.

Aim 3: Informatics Address three classes of unanswered questions crucial for the characterization and management of PH, comparing the information value of registry vs. EHR vs. fused data across registry/EHR/PROs, in the domains of spectrum of PH comorbidities, PH indicators and endpoints of morbidity and mortality, and response to therapies in PH.

Aim 4: Risk Stratification To validate the Pediatric Risk Score model using an independent patient cohort, obtained by enrichment of the PPHNet Registry with phenotypic data collection from a newly enrolled cohort of 500 patients (Collaborative substudy with Johnson & Johnson- "Children Are Not Small Adults: Validation of the Pediatric Pulmonary Hypertension Risk Score")

• Study Type: Observational
• Enrollment (Estimated): 2500

Contacts and Locations

• Study Contact: Name: Robin Mascotti; Phone Number: 303-724-6513; Email: robin.mascotti@childrenscolorado.org
• Study Contact Backup: Name: Erika B Rosenzweig, MD; Phone Number: 914-493-6160; Email: Erika.BermanRosenzweig@wmchealth.org

Study Locations

• Canada
  • Alberta
    • Edmonton, Alberta, Canada
      • Recruiting
      • University of Alberta Edmonton
      • Contact: Angela Bates, MD; Email: angela.bates@albertahealthservices.ca
      • Contact: Angela Bates, MD
• United States
  • California
    • Palo Alto, California, United States
      • Recruiting
      • Stanford University Medical Center
      • Contact: Rachel Hopper, MD; Email: rhopper@stanford.edu
      • Contact: Rachel Hopper, MD
    • San Francisco, California, United States
      • Recruiting
      • University California San Francisco
      • Contact: Roberta Keller, MD; Email: roberta.keller@ucsf.edu
      • Contact: Roberta Keller, MD
  • Colorado
    • Aurora, Colorado, United States, 80045
      • Recruiting
      • Children's Hospital Colorado
      • Contact: David D. Ivy, MD; Email: Dunbar.Ivy@childrenscolorado.org
      • Contact: Robin Mascotti; Email: Robin.mascotti@childrenscolorado.org
      • Contact: David D Ivy, MD
  • Florida
    • Saint Petersburg, Florida, United States
      • Recruiting
      • Johns Hopkins All Children's Heart Institute
      • Contact: Grace Freire, MD; Email: Gfreire1@jhmi.edu
      • Contact: Grace Freire, MD
  • Maryland
    • Baltimore, Maryland, United States
      • Recruiting
      • Johns Hopkins Children's Center
      • Contact: Jenny Schramm, MD; Email: schrammj@jhu.edu
      • Contact: Allen Everett, MD
  • Massachusetts
    • Boston, Massachusetts, United States
      • Recruiting
      • Boston Children's Hospital
      • Contact: Mary Mullen, MD; Email: Mary.Mullen@cardio.chboston.org
      • Contact: Mary Mullen, MD
  • New York
    • New York, New York, United States
      • Recruiting
      • Columbia University Medical Center
      • Contact: Usha Krishnan, MD; Email: usk1@cumc.columbia.edu
      • Contact: Usha Krishnan, MD
    • New York, New York, United States
      • Not yet recruiting
      • Maria Fareri Children's Hospital at WMC Health/Westchester Medical Center
      • Contact: Erika Rosenzweig, MD; Email: Erika.bermanrosenzweig@wmchealth.org
      • Contact: Erika Rosenzweig
  • Ohio
    • Cincinnati, Ohio, United States
      • Recruiting
      • Cincinnati Children's Hospital Medical Center
      • Contact: Russel Hirsch, MD; Email: russel.hirsch@cchmc.org
      • Contact: Russel Hirsch, MD
  • Pennsylvania
    • Philadelphia, Pennsylvania, United States
      • Recruiting
      • Children's Hospital of Philadelphia
      • Contact: Catherine Avitabile, MD; Email: AvitabileC@email.CHOP.EDU
      • Contact: Catherine Avitable, MD
  • Tennessee
    • Nashville, Tennessee, United States
      • Recruiting
      • Vanderbilt University Medical Center
      • Contact: Eric Austin, MD; Email: eric.austin@Vanderbilt.edu
      • Contact: Eric Austin, MD
  • Texas
    • Houston, Texas, United States
      • Not yet recruiting
      • Texas Children's
      • Contact: Nidhy Varghese, MD; Email: npvarghe@texaschildrens.org
      • Contact: Nidhy Varghese, MD
  • Washington
    • Seattle, Washington, United States
      • Recruiting
      • Seattle Children's Hospital
      • Contact: Delphine Yung, MD; Email: delphine.yung@seattlechildrens.org
      • Contact: Delphine Yung, MD

Participation Criteria

Eligibility Criteria

• Ages Eligible for Study: 1 day to 21 years (Child, Adult)
• Accepts Healthy Volunteers: No

• Sampling Method: Non-Probability Sample

Study Population

Pulmonary Hypertension (PH) is a syndrome characterized by vasoconstriction and abnormal growth and function of endothelial and smooth muscle cells and other components within the pulmonary vessels, which leads to elevation of the pulmonary artery pressure. PH may be idiopathic (primary) without any known cause. Some cases of PH are familial. PH may also be secondary to a specific disease process such as portal hypertension, congenital heart disease, chronic lung disease, thromboembolic disease, connective tissue disease, HIV, and use of anorexigens.

Description

Inclusion Criteria:

• The subject's age of onset of pulmonary hypertension must be prior to age 18 years
• The person providing consent must be able to read either Spanish or English.
• The subject (and/or parent/legal guardian) must be able to provide informed consent

Exclusion Criteria:

• Diagnosed with pulmonary hypertension after age 18
• Refusal to sign informed consent

Study Plan

How is the study designed?

Design Details

• Observational Models: Cohort
• Time Perspectives: Prospective

Number of groups / cohorts

1

Cohorts and Interventions

Group / Cohort
Pulmonary Arterial Hypertension

What is the study measuring?

Primary Outcome Measures

Outcome Measure	Measure Description	Time Frame
Time to clinical worsening	Time to clinical worsening for death, cardiac transplant, atrial septostomy, or Potts shunt.	12 months

Secondary Outcome Measures

Outcome Measure	Measure Description	Time Frame
Escalation of Pulmonary Hypertension Therapy	The addition of patients baseline medication therapy, this can include going from mono therapy to dual therapy, or dual therapy to triple therapy	36 months
Right Heart Failure	Elevated Right atrial pressure greater than 10 by right heart catheterization	36 months

Collaborators and Investigators

• Sponsor: New York Medical College
• Collaborators: National Heart, Lung, and Blood Institute (NHLBI); Janssen Pharmaceuticals
• Investigators: Principal Investigator: Lynn A Sleeper, ScD, Boston Children's Hospital; Principal Investigator: Delphine Yung, MD, Seattle Children's Hospital; Principal Investigator: Lewis Romer, MD, Johns Hopkins University; Principal Investigator: Steven H Abman, MD, Children's Hospital Colorado; Principal Investigator: David D Ivy, MD, Children's Hospital Colorado; Principal Investigator: Kenneth D Mandl, MD, Boston Children's Hospital, Harvard School of Medicine; Principal Investigator: Catherine Avitabile, MD, Children's Hospital of Philadelphia; Principal Investigator: Mary Mullen, MD, Boston Children's Hospital; Principal Investigator: Eric Austin, MD, Vanderbilt University Medical Center; Principal Investigator: Marc Natter, MD, Boston Children's Hospital; Principal Investigator: Roberta Keller, MD, University California San Francisco; Principal Investigator: Rachel Hopper, MD, Stanford University; Principal Investigator: Angela Bates, MD, University of Alberta Edmonton; Principal Investigator: Usha Krishnan, MD, Columbia University; Principal Investigator: Erika Rosenzweig, MD, Maria Fareri Children's Hospital at WMC Health/Westchester Medical Center; Principal Investigator: Grace Freire, MD, Johns Hopkins All Children's Heart Institute; Principal Investigator: Stephanie Handler, MD, Children's Hospital Wisconsin; Principal Investigator: Nidhy Varghese, MD, Baylor College of Medicine; Principal Investigator: Russel Hirsch, MD, Children's Hospital Medical Center, Cincinnati; Principal Investigator: Jenny Schramm, MD, Johns Hopkins University

Publications and helpful links

General Publications

• Geva A, Gronsbell JL, Cai T, Cai T, Murphy SN, Lyons JC, Heinz MM, Natter MD, Patibandla N, Bickel J, Mullen MP, Mandl KD; Pediatric Pulmonary Hypertension Network and National Heart, Lung, and Blood Institute Pediatric Pulmonary Vascular Disease Outcomes Bioinformatics Clinical Coordinating Center Investigators. A Computable Phenotype Improves Cohort Ascertainment in a Pediatric Pulmonary Hypertension Registry. J Pediatr. 2017 Sep;188:224-231.e5. doi: 10.1016/j.jpeds.2017.05.037. Epub 2017 Jun 16.

Helpful Links

• Related Info
• Related Info

Study record dates

Study Major Dates

• Study Start: October 1, 2014
• Primary Completion (Estimated): December 1, 2030
• Study Completion (Estimated): December 1, 2031

Study Registration Dates

• First Submitted: September 10, 2014
• First Submitted That Met QC Criteria: September 23, 2014
• First Posted (Estimated): September 26, 2014

Study Record Updates

• Last Update Posted (Actual): March 25, 2025
• Last Update Submitted That Met QC Criteria: March 10, 2025
• Last Verified: February 1, 2025

More Information

Terms related to this study

• Keywords: Pediatric; Registry; Pulmonary Arterial Hypertension (PAH); Pulmonary Vascular Disease (PVD)
• Additional Relevant MeSH Terms: Cardiovascular Diseases; Respiratory Tract Diseases; Lung Diseases; Pulmonary Arterial Hypertension; Hypertension; Vascular Diseases; Hypertension, Pulmonary
• Other Study ID Numbers: 14-0018; U01HL121518 (U.S. NIH Grant/Contract); NOPRODPUH4017 (Other Grant/Funding Number: Department of Education)

Plan for Individual participant data (IPD)

• Plan to Share Individual Participant Data (IPD)?: NO

Drug and device information, study documents

• Studies a U.S. FDA-regulated drug product: No
• Studies a U.S. FDA-regulated device product: No
• product manufactured in and exported from the U.S.: No