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Protocol Details

Evaluation of Sickle Cell Liver Disease

This study is NOT currently recruiting participants.

Summary | Eligibility | Citations | Contacts




Sponsoring Institute

National Institute of Diabetes and Digestive and Kidney Diseases (NIDDK)

Recruitment Detail

Type: Completed Study; data analyses ongoing
Gender: Male & Female
Min Age: 18
Max Age: 99

Referral Letter Required


Population Exclusion(s)


Special Instructions

Currently Not Provided


Sickle Cell Disease;
Bone Marrow Transplant

Recruitment Keyword(s)



Sickle Cell Disease

Investigational Drug(s)


Investigational Device(s)




Supporting Site

National Institute of Diabetes and Digestive and Kidney Diseases


- Sickle cell disease changes the shape of red cells. This makes them more likely to break down as they get stuck in small blood vessels. This leads to low red cell count and also damage to small blood vessels that supply many organs. One of the affected organs is the liver. Sickle cell disease and its treatment through blood transfusion can lead to significant liver damage. This disease also can cause the liver to regrow abnormally after damage. This can cause high blood pressure in the liver. Researchers want to know if curing sickle cell disease with a stem cell transplant improves liver damage.


- To explore specific factors that improve or worsen sickle cell liver disease after a stem cell transplant.


- Adults ages 18 and older with sickle cell liver disease.


- Participation will take approximately 7 days over 2 years.

- Visit 1: participants will be screened with medical history and review of current treatment regimen.

- Visit 2: participants will return to the clinic for explanation of the study and physical exam. They will also have blood and urine tests, and scans of the liver.

- All participants will have a 2-night stay at the clinic. They will have a liver biopsy and a test of liver pressure. They will be sedated and a tube will be inserted in a vein in their neck.

- Participants who have a stem cell transplant will have a second biopsy about 24 months later.

- Over the 2-year study period, participants will have blood drawn 2-4 times and stool samples collected 2 times.

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1.All age greater than 18 able to consent, male or female

2.Capacity to provide written informed consent

3.All ethnicities

4.Sickle cell genotypes; Homozygous Hemoglobin S Disease, Heterozygous Hemoglobin SC and S beta thalassemia including SB+ and SB0

5.Evidence of SCD liver dysfunction by abnormal liver laboratory parameters in at least 2 of the following; alanine aminotransferase (ALT), aspartate aminotransferase (AST), alkaline phosphatase (ALP), direct and total serum bilirubin > 1 times ULN)


1.If not taking measures to prevent pregnancy during the period of study

2.Incapacity to provide informed consent

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Panepinto JA, Walters MC, Carreras J, Marsh J, Bredeson CN, Gale RP, Hale GA, Horan J, Hows JM, Klein JP, Pasquini R, Roberts I, Sullivan K, Eapen M, Ferster A; Non-Malignant Marrow Disorders Working Committee, Center for International Blood and Marrow Transplant Research. Matched-related donor transplantation for sickle cell disease: report from the Center for International Blood and Transplant Research. Br J Haematol. 2007 Jun;137(5):479-85. Epub 2007 Apr 24.

Berthaut I, Guignedoux G, Kirsch-Noir F, de Larouziere V, Ravel C, Bachir D, Galact(SqrRoot)(Copyright)ros F, Ancel PY, Kunstmann JM, Levy L, Jouannet P, Girot R, Mandelbaum J. Influence of sickle cell disease and treatment with hydroxyurea on sperm parameters and fertility of human males. Haematologica. 2008 Jul;93(7):988-93. doi: 10.3324/haematol.11515. Epub 2008 May 27.

Rees DC, Williams TN, Gladwin MT. Sickle-cell disease. Lancet. 2010 Dec 11;376(9757):2018-31. doi: 10.1016/S0140-6736(10)61029-X. Epub 2010 Dec 3.

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Principal Investigator

Referral Contact

For more information:

Theo Heller, M.D.
National Institute of Diabetes and Digestive and Kidney Diseases (NIDDK)
BG 10 RM 10N248A
(301) 402-7147

Elenita Rivera, R.N.
National Institute of Diabetes and Digestive and Kidney Diseases (NIDDK)
National Institutes of Health
Building 10
Room 8E
10 Center Drive
Bethesda, Maryland 20892
(301) 435-6125

Office of Patient Recruitment
National Institutes of Health Clinical Center (CC)
Building 61, 10 Cloister Court
Bethesda, Maryland 20892
Toll Free: 1-800-411-1222
Local Phone: 301-451-4383
TTY: 1-866-411-1010

Clinical Trials Number:


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