Trial record 2 of 2 for:    "Inherited bone marrow failure syndromes"

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

This study has been completed.
James Whitcomb Riley Hospital for Children
Information provided by:
Office of Rare Diseases (ORD) Identifier:
First received: February 24, 2000
Last updated: June 23, 2005
Last verified: December 2001

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
Drug: filgrastim
Phase 2

Study Type: Interventional
Study Design: Primary Purpose: Treatment

Resource links provided by NLM:

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.


Genders Eligible for Study:   Both
Accepts Healthy Volunteers:   No


--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 identifier: NCT00004787

Sponsors and Collaborators
James Whitcomb Riley Hospital for Children
Study Chair: David A. Williams James Whitcomb Riley Hospital for Children
  More Information

Publications: Identifier: NCT00004787     History of Changes
Other Study ID Numbers: 199/11877, UTMB-416
Study First Received: February 24, 2000
Last Updated: June 23, 2005
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

Additional relevant MeSH terms:
Fanconi Anemia
Fanconi Syndrome
Dyskeratosis Congenita
Bone Marrow Diseases
Exocrine Pancreatic Insufficiency
Hematologic Diseases
Anemia, Hypoplastic, Congenital
Anemia, Aplastic
Genetic Diseases, Inborn
DNA Repair-Deficiency Disorders
Metabolic Diseases
Kidney Diseases
Urologic Diseases
Renal Tubular Transport, Inborn Errors
Metabolism, Inborn Errors
Blood Platelet Disorders
Skin Abnormalities
Congenital Abnormalities
Genetic Diseases, X-Linked
Skin Diseases, Genetic
Skin Diseases
Lipid Metabolism Disorders
Pancreatic Diseases
Digestive System Diseases
Adjuvants, Immunologic
Immunologic Factors processed this record on April 22, 2014