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.
Test group:
The study will include two visits for the test group:
At visit one there will be required and optional research activities as the following:
Required research activities:
-Peripheral blood draw (3.5 tablespoons) drawn by research coordinator. This blood is to isolate PBMCs for generation of iPSCs.If patient did not want to give a blood sample we will ask if willing to give a urine sample. A clinical research coordinator will give the patient a plastic container and will explain how use it.
The following research activities will be optional at visit one:
This visit will last 7-8 hours.
Study Visit Two:
This will include optional Right Heart Catheterization.
CONTROL GROUP
Control group will only have one visit. At this visit there will be a minimum required research activity to participate in the study and this will include:
-Peripheral blood draw (3.5 tablespoons) drawn by research coordinator. This blood is to isolate PBMCs for generation of iPSCs. If participant did not want to give a blood sample we will ask if willing to give a urine sample.
The following research activists will be optional at visit one:
| Condition | Iron-sulfur Cluster Deficiency, Pulmonary Hypertension, Friedreich Ataxia |
|---|---|
| Treatment | Blood draw, Right Heart Catheterization |
| Clinical Study Identifier | NCT02594917 |
| Sponsor | University of Pittsburgh |
| Last Modified on | 22 September 2023 |
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