Do You or a Loved One Have Barth Syndrome? Children, Teens and Adults Needed to Volunteer for a Research Study

Why are we doing this research?

Cincinnati Children’s is conducting a research study, sometimes known as a clinical trial or clinical study, to better understand the frequency of depression, anxiety and health related quality of life in people with Barth syndrome (BTHS). We also want to develop a patient/parent-reported, BTHS-specific checklist that will help us identify gaps in clinical care.

We hope this information can be used to learn more about targets for clinical interventions and treatments.

Who can participate?

Children, teens and adults, 5 years and older, who have Barth Syndrome may be eligible for participation.

Participants must have home Internet connection to complete online questionnaires and communications.

Conditions

  • Cardiology - Heart

What will happen in the study?

If you (a participant 18 years and older) or your child qualifies and you decide to take part in this study, you will complete 2 projects and be in this research study for 12 months or 1 year.

During project 1, participants and parents/legal guardians of participants will complete health related quality of life (HRQoL) questionnaires. Project 2 involves providing feedback for a BTHS-specific symptom checklist.

Both projects will occur over the Internet.

Project 1:

Participants/parents/legal guardians will complete questionnaires 3 different times, 6 months apart, during a 12-month period (at 0 months, 6 months, 12 months). The questionnaires, completed over the Internet at home, will gather your beliefs about you or your child’s HRQoL, anxiety and depressed mood.

Project 2:

Participants/parents/legal guardians will take part in a focus group with a group of clinical experts. The goal of this focus group is to review a BTHS-specific checklist, which can be used to report critical symptoms and side effects to clinicians, and identify gaps in patient care and provide feedback about potential solutions.

All communications and feedback will be done over email.

This focus group will occur during the 12-month study period.

You, as a participant or as a parent/guardian, will be given a consent form that thoroughly explains all of the details of the study. A member of the study staff will review the consent form with you and will be sure that all of your questions are answered.

What are the good things that can happen from this research?

There is no direct benefit to participating in this study. However, the information learned from this research study may help other patients diagnosed with Barth syndrome in the future.

What are the bad things that can happen from this research?

There are no medical risks associated with participating in this research study. There is the potential risk of release of identifying information, which will be minimized by the use of a secure web platform and de-identifying of any of your private information. There is also a risk that participants could become upset when completing the surveys. Participants will be given a number to call and speak with someone if they have concerns.

Possible risks will be provided to and discussed with those participants, parents or guardians interested in knowing more about this study.

Will you/your child be paid to be in this research study?

Participants will not be paid for their time, travel or effort during this research study.

Contact

Contact Us.BarthSyndromeStudy@cchmc.org
513-803-0366
Cincinnati Children’s Hospital Medical Center
Heart Institute
3333 Burnet Avenue
Cincinnati, OH 45229-3039

Study Doctor

Contact Us.John Lynn Jefferies, MD, MPH, FAAP, FACC
Director, Advanced Heart Failure and Cardiomyopathy
Cincinnati Children’s Hospital Medical Center
Heart Institute