Last updated on December 2000

Entrance into the International Fanconi Anemia Registry (IFAR)


Brief description of study

Entrance into the International Fanconi Anemia Registry (IFAR)

Detailed Study Description

To obtain clinical and genetic information on patients with this heterogeneous disorder, in order to learn how to optimize growth and development of affected children, and to increase our understanding of this rare syndrome.

Patients affected with Fanconi anemia will be admitted to The Rockefeller University Hospital for 3-5 days. They will receive a complete physical examination and drawing of blood for various laboratory studies. Consultations with subspecialists in genetics, hematology, endocrinology, gastroenterology, neurology, dermatology, etc. will be obtained as warranted. Genetic counseling and dietary instruction will be provided. Since growth failure associated with endocrine abnormalities is one of the most common findings in FA, and one of the least studied, we will evaluate patients for growth hormone, glucose metabolism, thyroid function, adrenal function and pubertal function.

Clinical Study Identifier: TX133862

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Agata Smogorzewska, M.D., Ph.D.

The Rockefeller University Hospital
New York, NY USA
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