Medical Treatment for Diamond Blackfan Anemia

NCT00001749 | Completed Phase 2

• 2 other identifiers: 98014498-H-0144
• Study Type: interventional
• Target: 25
• Locations: 1 country
• Sites: 1

Brief Summary

Diamond Blackfan anemia (DBA) is a condition in which the bone marrow is underdeveloped. DBA is considered a congenital disease, meaning patients are born with it. In DBA there is a lack of cells that give rise to red blood cells. The other elements produced in the bone marrow, such as white blood cells and platelets, are normal. Standard treatments used for this disorder such as steroids and bone marrow transplants are associated with failure, relapse, side-effects, increased morbidity, and even death. Two drugs, antithymocyte globulin (ATG) and cyclosporin have been used to treat DBA, but have only provided occasional responses. No study has ever combined these two drugs for the treatment of DBA. This study is designed to explore the combined use of ATG and cyclosporine as a rational approach to the treatment of DBA.

Conditions

Fanconi's Anemia; Hematologic Disease

Keywords

Immune Suppression; Erythroid Hypoplasia; Congenital Anemia; Reticulocytopenia; Diamond Blackfan Anemia

Interventions

Antithymocyte globulin DRUG

Cyclosporine DRUG

Eligibility Criteria

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

You may qualify if:

• Diagnosis of DBA as characterized by a hyporegenerative anemia presenting in early childhood with reticulocytopenia, and low or absent erythroid precursors in the bone marrow.
• Transfusion-dependence due to steroid failure or intolerance of steroid side effects.
• Ineligible for or declining an allogeneic transplant.
• Ages 3 to 75.

You may not qualify if:

• Serum creatinine greater than 2 times normal or a creatinine clearance less than 50% normal.
• SGPT or SGOT greater than 5 times normal.
• History of epilepsy (any seizures besides childhood febrile seizures).
• Current pregnancy or unwillingness to take oral contraceptives if menstruating.
• Positive diepoxybutane (DEB) test for Fanconi anemia.
• HIV positivity.
• Inability or unwillingness to sign an informed consent, either by the patient, or in the case of a minor, by the parent or guardian responsible for the patient.
• Underlying organ failure and/or those with a Karnofsky performance status of less than 1.
• Treatment with androgens, prednisone greater than 10 mg/day, growth factors, or other immunosuppressive therapies within one month of protocol entry.
• Ongoing treatment with Beta-adrenergic blocking drugs.
• Previous treatment with ATG and concurrent CSA. Previous treatment with either drug alone is acceptable if greater than one year prior to study entry.

Sponsors & Collaborators

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

Study Sites (1)

National Heart, Lung and Blood Institute (NHLBI)

Bethesda, Maryland, 20892, United States

Location

Related Publications (3)

• Casadevall N, Croisille L, Auffray I, Tchernia G, Coulombel L. Age-related alterations in erythroid and granulopoietic progenitors in Diamond-Blackfan anaemia. Br J Haematol. 1994 Jun;87(2):369-75. doi: 10.1111/j.1365-2141.1994.tb04924.x.

  PMID: 7524624 BACKGROUND

• Ball SE, McGuckin CP, Jenkins G, Gordon-Smith EC. Diamond-Blackfan anaemia in the U.K.: analysis of 80 cases from a 20-year birth cohort. Br J Haematol. 1996 Sep;94(4):645-53. doi: 10.1046/j.1365-2141.1996.d01-1839.x.

  PMID: 8826887 BACKGROUND

• Halperin DS, Freedman MH. Diamond-blackfan anemia: etiology, pathophysiology, and treatment. Am J Pediatr Hematol Oncol. 1989 Winter;11(4):380-94.

  PMID: 2694854 BACKGROUND

MeSH Terms

Conditions

Fanconi Anemia; Hematologic Diseases; Anemia, Diamond-Blackfan

Interventions

Antilymphocyte Serum; Cyclosporine

Condition Hierarchy (Ancestors)

Anemia, Hypoplastic, Congenital; Anemia, Aplastic; Anemia; Hemic and Lymphatic Diseases; Congenital Bone Marrow Failure Syndromes; Bone Marrow Failure Disorders; Bone Marrow Diseases; Genetic Diseases, Inborn; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; DNA Repair-Deficiency Disorders; Metabolic Diseases; Nutritional and Metabolic Diseases; Red-Cell Aplasia, Pure

Intervention Hierarchy (Ancestors)

Immune Sera; Antibodies; Immunoglobulins; Immunoproteins; Blood Proteins; Proteins; Amino Acids, Peptides, and Proteins; Serum Globulins; Globulins; Biological Products; Complex Mixtures; Cyclosporins; Peptides, Cyclic; Macrocyclic Compounds; Polycyclic Compounds; Peptides

Study Design

• Study Type: interventional
• Phase: phase 2
• Purpose: TREATMENT
• Sponsor Type: NIH

Study Record Dates

• First Submitted: November 3, 1999
• First Posted: November 4, 1999
• Study Start: July 1, 1998
• Study Completion: July 1, 2005
• Last Updated: March 4, 2008

Record last verified: 2005-07

Locations

US (1)