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  Patient Recruitment - Cholesteryl Ester Storage Disease
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Cholesteryl Ester Storage Disease (CESD) Research Study - Diagnosis and Followup Protocol

Cholesteryl Ester Storage Disease Research Study

Cholesteryl Ester Storage Disease (CESD) Research Study - Diagnosis and Followup Protocol

If you have Cholesteryl Ester Storage Disease (CESD), you are invited to participate in a study in an attempt to diagnose and follow your disorder. Most patients have an enlarged liver and spleen (hepatosplenomegaly) and abnormal liver enzymes (AST and ALT) in the first year of life. Confirmation of the disorder is made by the absence of acid lysosomal lipase activity in a skin or liver biopsy.

Eligible persons will undergo a comprehensive evaluation at no cost to you. All patients will remain under the care of their own physician who will receive results of the laboratory and diagnostic tests. In many cases, you will be invited back for yearly evaluations related to other studies. There is no cost to you for travel and for some of your medications.

For further information please contact our research coordinator (tel. 301-496-1500, e-mail: LipidStudy@nhlbi.nih.gov).
 
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