Allogeneic Bone Marrow Transplantation for the Treatment of Genetic Disorders of Erythropoiesis

NCT00578435 | Completed Phase 2

• 1 other identifier: 94-005
• Study Type: interventional
• Target: 25
• Locations: 1 country
• Sites: 1

Brief Summary

The purpose of this study is to determine and confirm the role of bone marrow transplantation in the treatment of disorders of the red cell and hemoglobin including sickle cell anemia, thalassemia and diamond blackfan anemia.

Conditions

Genetic Disorders; Sickle Cell Anemia

Keywords

ERYTHROPOIESIS; Genetic Disorders; Sickle Cell Anemia; Thalassemia; Diamond Blackfan Anemia

Outcome Measures

Primary Outcomes (1)

• Define the role of bone marrow transplantation for the treatment of sickle cell disease and the reversibility of sickle cell vasculopathy and organ damage, good risk thalassemia major and Diamond-Blackfan Anemia.

  2 years

Interventions

Busulfan, Cyclophosphamide, BMD PROCEDURE

Busulfan 0.8 or 1 mg/Kg/day Days 8-6 Cyclophosphamide 50 mg/Kg/day Days 2-5 BMT Day 0

Eligibility Criteria

• Age: 1 Year+
• Sex: all
• Healthy Volunteers: No
• Age Groups: Child (0-17), Adult (18-64), Older Adult (65+)

You may qualify if:

• Patients with severe HOMOZYGOUS SICKLE CELL ANEMIA or SICKLE/BETA THALASSEMIA
• Neurologic event (stroke or hemorrhage).
• Abnormal cerebral MRI scan and cerebral arteriogram or MRI angiographic study (MRA) and impaired neuropsychologic testing.
• Recurrent acute chest syndrome (\> 2 episodes)
• Stage I-II sickle chronic lung disease
• Sickle cell nephropathy (moderate or severe proteinuria or GFR 30-50% of predicted for age.
• Major visual impairment in at least one eye with bilateral proliferative retinopathy.
• Osteonecrosis of multiple bones
• Chronic debilitating pain secondary to vasoocclusive crisis (\>= 3 episodes per year for \>= 3 years) Recurrent priapism
• Allo-immunization with the development of antibodies following chronic transfusion therapy
• Patients with HOMOZYGOUS SICKLE CELL ANEMIA or SICKLE/BETA THALASSEMIA with the following criteria will be considered for accrual on this protocol
• Patients \< 2 years with high WBC counts and/or \>1 episode of dactylitis and/or a Hgb \< 7 g/dl
• History of death from sickle cell disease in sibship of patient
• Patients with BETA-THALASSEMIA MAJOR with Lucarelli class 1 or 2 risk status i.e with only 0-2 of the following factors: hepatomegaly, portal fibrosis, or poor chelation therapy
• Patients with DIAMOND-BLACKFAN ANEMIA who have failed conventional therapy.

You may not qualify if:

• Patients whose life expectancy is less than 8 weeks. Patients with a Karnofsky or Lansky performance score of \< 70%
• Patients with severe major organ dysfunction:
• Patients with severe renal impairment. This will be determined by a creatinine clearance \< 70 ml/min/1.73 m2 (or serum creatinine \> 1.5 x Normal) or by a glomerular filtration rate \< 30% of predicted normal for age
• Inadequate cardiac function as determined by fractional shortening \< 28% on echocardiogram, and/or ejection fraction of \< 50% on echocardiogram or RNCA.
• Patients with FS of 23-28% who show an increase in FS in response to stress on the supine bicycle ergometer are eligible
• Severe residual functional neurologic impairment
• Stage III-IV sickle chronic lung disease
• Pregnant or lactating women are excluded

Sponsors & Collaborators

• Memorial Sloan Kettering Cancer Center: lead

Study Sites (1)

Memorial Sloan-Kettering Cancer Center

New York, New York, 10065, United States

Location

Related Links

• Memorial Sloan-Kettering web site

MeSH Terms

Conditions

Genetic Diseases, Inborn; Anemia, Sickle Cell; Thalassemia; Anemia, Diamond-Blackfan

Interventions

Busulfan; Cyclophosphamide

Condition Hierarchy (Ancestors)

Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Anemia, Hemolytic, Congenital; Anemia, Hemolytic; Anemia; Hematologic Diseases; Hemic and Lymphatic Diseases; Hemoglobinopathies; Anemia, Hypoplastic, Congenital; Anemia, Aplastic; Red-Cell Aplasia, Pure; Congenital Bone Marrow Failure Syndromes; Bone Marrow Failure Disorders; Bone Marrow Diseases

Intervention Hierarchy (Ancestors)

Butylene Glycols; Glycols; Alcohols; Organic Chemicals; Mesylates; Alkanesulfonates; Alkanesulfonic Acids; Alkanes; Hydrocarbons, Acyclic; Hydrocarbons; Sulfonic Acids; Sulfur Acids; Sulfur Compounds; Phosphoramide Mustards; Nitrogen Mustard Compounds; Mustard Compounds; Hydrocarbons, Halogenated; Phosphoramides; Organophosphorus Compounds

Study Officials

• Farid Boulad, MD

  Memorial Sloan Kettering Cancer Center

  PRINCIPAL INVESTIGATOR

Study Design

• Study Type: interventional
• Phase: phase 2
• Allocation: NA
• Masking: NONE
• Purpose: TREATMENT
• Intervention Model: SINGLE GROUP
• Sponsor Type: OTHER

Study Record Dates

• First Submitted: December 18, 2007
• First Posted: December 21, 2007
• Study Start: January 1, 1994
• Primary Completion: August 1, 2008
• Study Completion: August 1, 2008
• Last Updated: September 12, 2008

Record last verified: 2008-09

Locations

US (1)