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Genetic and Environmental Determinants That Control Metabolism in Pulmonary Hypertension

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ClinicalTrials.gov Identifier: NCT02594917
Recruitment Status : Recruiting
First Posted : November 3, 2015
Last Update Posted : June 25, 2020
Sponsor:
Information provided by (Responsible Party):
Stephen Y. Chan, University of Pittsburgh

Brief Summary:

The investigators are performing this research study to determine whether having low iron-sulfur cluster levels can cause a disease known as pulmonary hypertension (PH). PH is defined as abnormally high blood pressure in the arteries of the lungs.

Usually, small specialized structures inside each human cell called mitochondria are in charge of generating energy within lung arteries for normal function. During situations of disease or stress, lung arteries undergo a change in the function of mitochondria, resulting in the development of PH. In studies on mice, investigators have learned that alterations in the production of specific metal complexes called iron-sulfur clusters are responsible for these changes. This makes it more likely that mice will develop PH.

In this study, the investigators want to find out if alteration of iron-sulfur cluster formation leads to increased likelihood of developing PH in humans.


Condition or disease Intervention/treatment
Iron-sulfur Cluster Deficiency Pulmonary Hypertension Friedreich Ataxia Procedure: Right Heart Catheterization Other: Blood draw

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Study Type : Observational
Estimated Enrollment : 11 participants
Observational Model: Cohort
Time Perspective: Prospective
Official Title: Genetic and Environmental Determinants That Control Metabolism in Pulmonary Hypertension
Study Start Date : October 2015
Estimated Primary Completion Date : September 2021
Estimated Study Completion Date : September 2021


Group/Cohort Intervention/treatment
Test Group
The study population will include ten patients (ages 18-60 yrs) with confirmed mutations of the iron-sulfur cluster biogenesis complex of proteins and experiencing dyspnea, heart failure, or exercise intolerance.
Procedure: Right Heart Catheterization
Some participants (i.e., those that are willing and able) will undergo a Right Heart Catheterization to check Cardiopulmonary function.

Other: Blood draw
Test and control group will be asked to give 20 ml of blood samples

Control Group
It will also include ten additional patients (ages 18-60 yrs) who are unaffected first-degree family members of the above subjects.
Other: Blood draw
Test and control group will be asked to give 20 ml of blood samples




Primary Outcome Measures :
  1. 6 minute walk distance (meters) [ Time Frame: baseline ]
    In the TEST group, the investigators will measure 6 minute walk distance

  2. Pulmonary arterial pressure (mm Hg) [ Time Frame: baseline ]
    In the TEST group, the investigators will measure pulmonary arterial pressure by right heart catheterization at rest and with exercise.


Biospecimen Retention:   Samples With DNA
We are generating inducible pluripotent stem cells from blood and skin biopsies from participants.


Information from the National Library of Medicine

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Ages Eligible for Study:   18 Years to 60 Years   (Adult)
Sexes Eligible for Study:   All
Accepts Healthy Volunteers:   No
Sampling Method:   Probability Sample
Study Population
The study population will include ten patients (ages 18-60 yrs) with confirmed mutations of the iron-sulfur cluster biogenesis complex of proteins. It will also include ten additional patients (ages 18-60 yrs) who are unaffected first-degree family members of the above subjects.
Criteria

INCLUSION CRITERIA for Test Group:

  1. Consenting individuals age 18-60 years of age
  2. Have a confirmed genetic homozygous mutation (including ISCU1/2, FXN, BOLA3, NFU1) that causes the impairment of iron-sulfur cluster formation; such a subject will not be excluded from this study even if that patient's first degree relative(s) does not enroll in this pilot study.

INCLUSION CRITERIA for Control Group:

  1. Consenting individuals age 18-60 years of age
  2. First degree family member (mother, father, sister, brother, son, or daughter) of recruited individual in the test group
  3. Have a confirmed heterozygous genetic mutation (including ISCU1/2, FXN, BOLA3, NFU1)

EXCLUSION CRITERIA for Test and Control Group:

  1. Impaired decision making capacity
  2. Inability to consent to procedures
  3. Children less than 18 years of age and adults older than 60 years of age
  4. Current pregnancy

Information from the National Library of Medicine

To learn more about this study, you or your doctor may contact the study research staff using the contact information provided by the sponsor.

Please refer to this study by its ClinicalTrials.gov identifier (NCT number): NCT02594917


Contacts
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Contact: Stephen Chan, MD, PhD, FAHA 412-383-3990 chansy@pitt.edu
Contact: Annie Watson, MPH 412-647-4964 watsonam3@upmc.edu

Locations
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United States, Pennsylvania
University of Pittsburgh Medical Center Recruiting
Pittsburgh, Pennsylvania, United States, 15213
Contact: Stephen Chan, M.D., Ph.D., F.A.H.A.    412-383-6990    chansy@pitt.edu   
Contact: Annie Watson, MPH    412-647-4964    watsonam3@upmc.edu   
Sponsors and Collaborators
University of Pittsburgh
Investigators
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Principal Investigator: Stephen Chan, MD, PhD, FAHA University of Pittsburgh
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Responsible Party: Stephen Y. Chan, Associate Professor of Medicine, University of Pittsburgh
ClinicalTrials.gov Identifier: NCT02594917    
Other Study ID Numbers: STUDY19030124
First Posted: November 3, 2015    Key Record Dates
Last Update Posted: June 25, 2020
Last Verified: June 2020
Individual Participant Data (IPD) Sharing Statement:
Plan to Share IPD: Undecided
Additional relevant MeSH terms:
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Hypertension, Pulmonary
Friedreich Ataxia
Hypertension
Vascular Diseases
Cardiovascular Diseases
Lung Diseases
Respiratory Tract Diseases
Nervous System Diseases
Spinocerebellar Degenerations
Cerebellar Diseases
Brain Diseases
Central Nervous System Diseases
Spinal Cord Diseases
Heredodegenerative Disorders, Nervous System
Neurodegenerative Diseases
Genetic Diseases, Inborn
Mitochondrial Diseases
Metabolic Diseases