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BMPR2 Mutations and Iron Metabolism in Pulmonary Arterial Hypertension

NCT04086537 · Status: COMPLETED · Type: OBSERVATIONAL · Enrollment: 109

Last updated 2021-04-29

No results posted yet for this study

Summary

Previously characterised PAH patients, including idiopathic, heritable and other forms of group 1 PAH with and without BMPR2 mutation which have already been analysed and are regularly seen in the Center for Pulmonary Hypertension may be contacted to participate in the study. Clinical and laboratory values will be collected prospectively.

Patients with IPAH/HPAH and other forms of PAH who are newly diagnosed within the duration of the trial will receive routine diagnostic workup including the routine information about a possible BMPR2 mutation analysis for IPAH/HPAH patients according to guidelines.

During their routine visit the patients' medical history will be obtained and physical examination will be conducted. Moreover, an electrocardiogram (ECG), determination of World Health Organization (WHO)-functional class, laboratory testing (NT-proBNP and routine laboratory), echocardiography will be routinely carried out. BMPR2 expression levels will be measured in blood samples. Additionally, laboratory samples will be collected for analysis of further parameters reflecting iron metabolism such as hepcidin, ferritin, iron levels, IL6 and circulating soluble transferrin receptor Levels.

In addition, healthy controls will be invited to participate in this study to obtain comparable levels of hepcidin and BMPR2 pathway members.

Conditions

Interventions

DIAGNOSTIC_TEST

hepcidin levels and BMPR2 expression

Samples will be collected in the three groups. Hepcidin levels will be measured in serum using ELISA and BMPR2 expression will be assessed as previously described using real time-qPCR

Sponsors & Collaborators

  • University Hospital Heidelberg

    collaborator OTHER

  • Hannover Medical School

    collaborator OTHER

  • University Hospital Carl Gustav Carus

    collaborator OTHER

  • University of Leipzig

    collaborator OTHER

  • University of Giessen

    collaborator OTHER

  • Heidelberg University

    lead OTHER

Eligibility

Min Age
18 Years
Max Age
80 Years
Sex
ALL
Healthy Volunteers
Yes

Timeline & Regulatory

Start
2019-05-02
Primary Completion
2020-01-31
Completion
2021-02-28

Countries

  • Germany

Study Locations

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Entities

Diseases

Read the full study record

This page highlights key information. For complete eligibility criteria, study locations, investigator contacts, and the full protocol, visit the original record on ClinicalTrials.gov.

View NCT04086537 on ClinicalTrials.gov