Fanconi anemia study using eltrombopag

Volunteers at least 4 years of age with Fanconi anemia are needed for a research study.

Fanconi anemia is a rare genetic disorder that mostly affects children and often leads to bone marrow failure. Researchers at the National Institutes of Health (NIH) are investigating a new drug to improve blood counts in individuals diagnosed with Fanconi anemia. Eltrombopag is an oral drug that mimics a special protein that causes the body to make more platelets. Currently eltrombopag is used to treat low platelet counts in patients with hepatitis C and chronic immune thrombocytopenic purpura (ITP). Researchers are evaluating if this new drug will improve blood cell counts in individuals diagnosed with Fanconi anemia.

Eligible participants:

• At least 4 years old.
• Have been diagnosed with Fanconi anemia by genetic testing.
• Have declined or not responded to treatment with danazol or oxymetholone.
• Weight more than 12 kg (26 lbs)

What is involved?

• A review of medical records, and physical exam to determine eligibility for the study.
• Participating in the study may last up to 3.5 years.
• Participants with improvement in their blood cell counts at 6 months will have the option to continue taking the medication for an additional 3 years.
• You may receive blood and or platelet transfusions.
• Tests, medication, and procedures conducted at the NIH Clinical Center are at no cost to you.
• Compensation for travel may be provided.

The NIH Clinical Center is America’s research hospital is located in Bethesda, Maryland, on the Metro red line (Medical Center stop).

For more information, call:
Office of Patient Recruitment
866-444-1132
TTY users call via MD Relay 7-1-1
Online: https://go.usa.gov/xQyKp
NIH Study: 17-H-0121