Background:
Fanconi anemia is a genetic disease. Some people with it have reduced blood cell counts. This
means their bone marrow no longer works properly. These people may need blood transfusions
for anemia (low red blood cells) or low platelet counts or bleeding. Researchers want to see
if a new drug will help people with this disease.
Objective:
To find out if a new drug, eltrombopag, is effective in people with Fanconi anemia. To know
how long the drug needs to be given to improve blood counts.
Eligibility:
People at least 2 years old with Fanconi anemia with reduced blood cell counts.
Design:
Participants will be screened with blood and urine tests. They will repeat this before
starting to take the study drug.
Participants will take eltrombopag pills by mouth once a day for 24 weeks. They will be
monitored closely for side effects.
Participants will have blood tests every 2 weeks while on eltrombopag.
Participants will visit NIH 3 months and 6 months after starting eltrombopag. At these
visits, participants will:
Answer questions about their medical history, how they are feeling, and their quality of life
Have a physical exam
Have blood and urine tests
Have a bone marrow sample taken by needle from the hip. The area will be numbed.
If participants blood cell counts improve, they might join the extended access part of the
study. They will continue taking eltrombopag for 3 years and sign a different consent.
After 24 weeks of treatment, if there is no improvement in blood cell counts, participants
will stop taking eltrombopag. They will return for an optional follow-up visit that repeats
the study visits.
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