Phase II Pilot Study of Granulocyte Colony-Stimulating Factor for Inherited Bone Marrow Failure Syndromes

This study has been completed.

First Received: February 24, 2000 Last Updated: June 23, 2005 History of Changes

Sponsors and Collaborators:	National Center for Research Resources (NCRR) James Whitcomb Riley Hospital for Children
Information provided by:	Office of Rare Diseases (ORD)
ClinicalTrials.gov Identifier:	NCT00004787

Purpose

OBJECTIVES: I. Assess the efficacy of recombinant human granulocyte colony-stimulating factor (G-CSF) in raising the absolute neutrophil count, platelet count, and hemoglobin level in patients with inherited bone marrow failure syndromes.

II. Assess the efficacy of a reduced maintenance dose in patients who respond to daily G-CSF.

III. Assess the toxic effects of G-CSF in these patients. IV. Measure bone marrow progenitor colonies before and after G-CSF. V. Measure CD34-positive cells in marrow and blood before and after G-CSF using flow cytometry and immunohistochemistry.

Condition	Intervention	Phase
Shwachman Syndrome Fanconi's Anemia Dyskeratosis Congenita Thrombocytopenia	Drug: filgrastim	Phase II

Study Type:	Interventional
Study Design:	Treatment

Resource links provided by NLM:

Genetics Home Reference related topics: L1 syndrome Shwachman-Diamond syndrome

MedlinePlus related topics: Anemia

Drug Information available for: Filgrastim

U.S. FDA Resources

Further study details as provided by Office of Rare Diseases (ORD):

Estimated Enrollment:	20
Study Start Date:	December 1994

Detailed Description:

PROTOCOL OUTLINE: Patients receive granulocyte colony-stimulating factor (G-CSF) subcutaneously every day for 8 weeks; nonresponders receive an increased dose for an additional 8 weeks. Patients who respond at week 8 or 16 are then tapered to a lower maintenance dose of G-CSF administered every other day through week 40. The dose is adjusted to maintain an absolute neutrophil count above 1500.

Patients are removed from study for failure to achieve a complete response by week 16, unacceptable nonhematologic toxicity, the identification of a clonal karyotype in marrow, or the onset of leukemia.

Eligibility

Genders Eligible for Study:	Both
Accepts Healthy Volunteers:	No

Criteria

PROTOCOL ENTRY CRITERIA:

--Disease Characteristics--

Inherited bone marrow failure syndrome, including:

Fanconi's anemia
Dyskeratosis congenita
Shwachman syndrome
Amegakaryocytic thrombocytopenia
Decreased megakaryocytes in infancy
No thrombocytopenia with absent radius syndrome (TAR)
No trisomy 13 or 18
No clonal bone marrow karyotype

--Prior/Concurrent Therapy--

At least 4 weeks since growth factors
Concurrent therapy allowed if not altered for 30 days prior to entry through week 8
No concurrent investigational drugs

--Patient Characteristics--

Hematopoietic: ANC <1000
No leukemia
Other: No medical or psychiatric contraindication to protocol participation
No pregnant or nursing women

Contacts and Locations

Please refer to this study by its ClinicalTrials.gov identifier: NCT00004787

Sponsors and Collaborators

National Center for Research Resources (NCRR)

James Whitcomb Riley Hospital for Children

Investigators

Study Chair:

David A. Williams

James Whitcomb Riley Hospital for Children

More Information

Publications:

Rackoff WR, Orazi A, Robinson CA, Cooper RJ, Alter BP, Freedman MH, Harris RE, Williams DA. Prolonged administration of granulocyte colony-stimulating factor (filgrastim) to patients with Fanconi anemia: a pilot study. Blood. 1996 Sep 1;88(5):1588-93.

Study ID Numbers:	199/11877, UTMB-416
Study First Received:	February 24, 2000
Last Updated:	June 23, 2005
ClinicalTrials.gov Identifier:	NCT00004787 History of Changes
Health Authority:	United States: Federal Government

Keywords provided by Office of Rare Diseases (ORD):

Fanconi's anemia
Shwachman syndrome
aplastic anemia
dermatologic disorders

dyskeratosis congenita
hematologic disorders
rare disease
thrombocytopenia

Study placed in the following topic categories:

Metabolic Diseases
Skin Diseases
Aplastic Anemia
Hematologic Diseases
Fanconi Anemia
Blood Platelet Disorders
Skin Abnormalities
Anemia
Rare Diseases
Pancytopenia
Inherited Bone Marrow Failure Syndromes
Fanconi's Anemia

Thrombocytopathy
Thrombocytopenia
Genetic Diseases, Inborn
Dyskeratosis Congenita
Genetic Diseases, X-Linked
Anemia, Aplastic
Congenital Abnormalities
Bone Marrow Diseases
Metabolic Disorder
Skin Diseases, Genetic
Shwachman-Diamond Syndrome

Additional relevant MeSH terms:

Metabolic Diseases
Disease
Skin Diseases
Hematologic Diseases
Blood Platelet Disorders
Fanconi Anemia
DNA Repair-Deficiency Disorders
Skin Abnormalities
Anemia
Pathologic Processes

Thrombocytopenia
Anemia, Hypoplastic, Congenital
Genetic Diseases, Inborn
Dyskeratosis Congenita
Syndrome
Genetic Diseases, X-Linked
Anemia, Aplastic
Congenital Abnormalities
Bone Marrow Diseases
Skin Diseases, Genetic

ClinicalTrials.gov processed this record on July 02, 2009