Deferoxamine for the Treatment of Hemochromatosis

NCT00001203 | Completed

• 2 other identifiers: 85008785-H-0087
• Study Type: observational
• Target: 151
• Locations: 1 country
• Sites: 1

Brief Summary

When patients receive repeated blood transfusions the level of iron in the patient s blood can rise. When iron is processed in the body a protein known as hemosiderin can begin collecting in the organs. If too much hemosiderin collects in the organs they can begin to malfunction. This condition is called transfusional hemochromatosis. An organ of particular importance in transfusional hemochromatosis is the heart. Patients born with diseases requiring blood transfusions at birth begin to develop heart problems in their teens. These patients typically only live for 17 years. Adults that require transfusions can begin experiencing heart problems after 100-200 units of backed red blood cells. Deferoxamine (Desferal) is a drug that binds to iron and allows it to be excreted from the body. It is the only effective way to remove iron from patients who have been overloaded with iron because of multiple transfusions. Previous studies have lead researchers to believe that deferoxamine, when given as an injection under the skin (subcutaneous), can be delay or prevent heart complications. Researchers plan to continue studying patients receiving deferoxamine as treatment for the prevention of heart complications associated with repeated blood transfusions. In this study researchers will attempt;

1. 1.To determine if deferoxamine, given regularly, can indefinitely prevent the heart, liver, and endocrine complications associated with transfusional hemochromatosis
2. 2.To determine whether heart disease caused by transfusional hemochromatosis can be reversed by intensive treatment with deferoxamine.

Conditions

Diabetes Mellitus; Heart Disease; Hemochromatosis; Thalassemia

Keywords

Desferal; Thalassemia; Liver Iron Concentration; Endocrine Evaluation; Diabetes Mellitus; Cardiac Disease; Acquired Anemia

Eligibility Criteria

• Age: 4 Years+
• Sex: all
• Healthy Volunteers: No
• Age Groups: Child (0-17), Adult (18-64), Older Adult (65+)

You may qualify if:

• Patients studied under this protocol will be at risk for or have evidence of significant excess tissue iron.
• Most patients will be on regular blood transfusion secondary to either congenital or acquired anemia.
• The majority of patients have homozygous beta thalassemia.
• Patients with sickle cell anemia will be included only when there is an absolute indication for regular blood transfusions (e.g., a history of stroke).
• Twenty to thirty adults with acquired anemia and good long-term prognosis will be accepted for study if chelation can be initiated early in their transfusion history (less than 30-50 units).

You may not qualify if:

• Such patients will be excluded from study if they have diabetes or cardiac disease due to another cause (coronary artery or valvular heart disease).

Sponsors & Collaborators

• National Heart, Lung, and Blood Institute (NHLBI): lead

Study Sites (1)

National Institutes of Health Clinical Center, 9000 Rockville Pike

Bethesda, Maryland, 20892, United States

Location

Related Publications (3)

• Lucarelli G, Galimberti M, Polchi P, Angelucci E, Baronciani D, Giardini C, Politi P, Durazzi SM, Muretto P, Albertini F. Bone marrow transplantation in patients with thalassemia. N Engl J Med. 1990 Feb 15;322(7):417-21. doi: 10.1056/NEJM199002153220701.

  PMID: 2300104 BACKGROUND

• Ley TJ, DeSimone J, Anagnou NP, Keller GH, Humphries RK, Turner PH, Young NS, Keller P, Nienhuis AW. 5-azacytidine selectively increases gamma-globin synthesis in a patient with beta+ thalassemia. N Engl J Med. 1982 Dec 9;307(24):1469-75. doi: 10.1056/NEJM198212093072401.

  PMID: 6183586 BACKGROUND

• Brittenham GM, Farrell DE, Harris JW, Feldman ES, Danish EH, Muir WA, Tripp JH, Bellon EM. Magnetic-susceptibility measurement of human iron stores. N Engl J Med. 1982 Dec 30;307(27):1671-5. doi: 10.1056/NEJM198212303072703.

  PMID: 7144866 BACKGROUND

MeSH Terms

Conditions

Diabetes Mellitus; Heart Diseases; Hemochromatosis; Thalassemia

Condition Hierarchy (Ancestors)

Glucose Metabolism Disorders; Metabolic Diseases; Nutritional and Metabolic Diseases; Endocrine System Diseases; Cardiovascular Diseases; Metal Metabolism, Inborn Errors; Metabolism, Inborn Errors; Genetic Diseases, Inborn; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Iron Overload; Iron Metabolism Disorders; Anemia, Hemolytic, Congenital; Anemia, Hemolytic; Anemia; Hematologic Diseases; Hemic and Lymphatic Diseases; Hemoglobinopathies

Study Officials

• Griffin P Rodgers, M.D.

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

  PRINCIPAL INVESTIGATOR

Study Design

• Study Type: observational
• Sponsor Type: NIH
• Responsible Party: SPONSOR

Study Record Dates

• First Submitted: November 3, 1999
• First Posted: November 4, 1999
• Study Start: April 22, 1985
• Study Completion: November 9, 2015
• Last Updated: December 12, 2019

Record last verified: 2015-11-09

Locations

US (1)