Fanconi Anemia (FA) Study For Children at Least 12 Years Old and Adults

Why are we doing this research?

Cincinnati Children’s is conducting a research study, sometimes known as a clinical research study, to compare the nutritional status of children and adults with Fanconi anemia (FA) to that of healthy individuals. Our goal is to help improve the clinical care affecting the growth and nutritional status of persons with FA.

Who can participate?

Children at least 12 years old and adults who have been diagnosed with FA may be eligible to participate.

Conditions

  • Hematology - Fanconi Anemia
  • Weight - Nutrition
  • Diabetes - Endocrinology - Metabolism

What will happen in the study?

We want you to know that it is safe to come to Cincinnati Children’s during the coronavirus pandemic. We are taking every precaution to protect you while you are at the medical center. These precautions include continuous and thorough cleaning, masks, daily screenings of every person in the medical center for symptoms, social distancing policies and visitor limitations. Please talk to us about any concerns you may have about coming to our hospital during this time of COVID.

The study includes an early morning study visit lasting 4 to 6 hours after fasting overnight. Here are some of the things that will happen in this study.

You will:

  • Submit baseline blood and urine samples
  • Have your oxygen consumption and carbon dioxide production measured by breathing naturally using a technique called indirect calorimetry (IC)
  • Complete a nutritional status assessment that includes recording of your weight, height, mid upper arm circumference, triceps skin folds, handgrip strength, and body composition
  • Complete a handgrip strength assessment using a dynamometer
  • Be asked to drink concentrated sugar water

The first few study participants will be asked to provide urine and blood samples hourly, if possible. The remaining study participants will be asked to provide urine and blood samples only at the midpoint and endpoint of the study visit. The IC measurement of your oxygen consumption and carbon dioxide production will be performed again as previously described at the mid-point of the visit.

You 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 are no benefits to you from participating in this research. However, possible benefits to others include finding better ways to improve the nutritional status of persons with FA and better understand the complex metabolism of patients with FA.

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

Possible risks and discomforts will be discussed prior to the start of the study and include mild discomfort from the blood draws, minimal risk of bleeding at the site of the blood draws, and nausea.

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

Families and adult participants will receive a $20 meal voucher at the end of the study, and travel expenses and accommodations are reimbursable by submission to FARF (Fanconi Anemia Research Fund).

Contact

Contact Us.Lindsey Romick-Rosendale
513-517-0256
lindsey.romick-rosendale@cchmc.org

Study Doctor

Contact Us.Lindsey Romick-Rosendale, PhD
Division of Pathology & Laboratory Medicine
Cincinnati Children’s Hospital Medical Center