Recruitment

Recruitment Status
Recruiting
Estimated Enrollment
Same as current

Summary

Conditions
  • Friedreich Ataxia
  • Iron-sulfur Cluster Deficiency
  • Pulmonary Hypertension
Type
Observational
Design
Observational Model: CohortTime Perspective: Prospective

Participation Requirements

Age
Between 18 years and 60 years
Gender
Both males and females

Description

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...

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: Physical exam and blood work (kidney/liver, blood count, coagulation, B-HCG, iron studies, and plasma for microRNA) processed at Presby Lab. This will be required if the patient approved to do right heart cath. Electrocardiogram. 6 Minute Walk Test. Skin Biopsy from underarm or inner thigh by physician (Dermatology department) (if patients agree to do, if not, we will only get a blood sample) Resting Echocardiogram This visit will last 7-8 hours. Study Visit Two: This will include optional Right Heart Catheterization. Right Heart catheterization by PI/Sub-Investigator. Duration ~ 3 hours IF the results show that the pressure in the lung vessels is elevated without exercise AND there is no other abnormality in the heart function, we will NOT do exercise testing. IF the patients are physically able to perform exercise testing/agree to do an exercise testing, patients will have an Exercise Right Heart catheterization and a Rest and Stress Echocardiography. (Determined by PI/Sub-Investigator All participants who will do right heart catheterization will have to do a pregnancy test before the procedure. Exercise Echocardiogram completed in. If patient unable to exercise medication (Dobutamine) will be given. Duration ~ 1-2 hours Exercise Right Heart catheterization Duration ~ 2-3 hours 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: Physical exam and blood work (kidney/liver, blood count, coagulation, B-HCG, iron studies, and plasma for microRNA) processed at Presby Lab. This will be required if the patient approved to do right heart cath. ECG, done by research coordinator and read by PI/Sub-Investigator. 6 Minute Walk Test, done by research coordinator, if patient could perform. Skin Biopsy from underarm or inner thigh by physician (Dermatology department) (if patients agree to do, if not, we will only get a blood sample) This visit will last 6-7 hours.

Tracking Information

NCT #
NCT02594917
Collaborators
Not Provided
Investigators
Principal Investigator: Stephen Chan, MD, PhD, FAHA University of Pittsburgh