NCT00004342

Brief Summary

OBJECTIVES: I. Document the clinical course of severe chronic neutropenia (SCN). II. Monitor and assess long term safety of primary treatment in SCN patients in the United States, Canada, Europe, and Australia. III. Study the incidence and outcome of adverse events such as osteoporosis, splenomegaly, cytogenetic abnormalities, myelodysplastic syndrome, and leukemia. IV. Evaluate growth and development and hematologic parameters. V. Monitor for clinically significant changes in primary treatment response over time. VI. Establish a physician network to increase the understanding of SCN. VII. Establish a demographic database to allow for future research.

Trial Health

65
Monitor

Trial Health Score

Automated assessment based on enrollment pace, timeline, and geographic reach

Enrollment
1,000

participants targeted

Target at P75+ for all trials

Geographic Reach
5 countries

10 active sites

Status
unknown

Health score is calculated from publicly available data and should be used for screening purposes only.

Trial Relationships

Click on a node to explore related trials.

Study Timeline

Key milestones and dates

Study Start

First participant enrolled

June 1, 1994

Completed
5.4 years until next milestone

First Submitted

Initial submission to the registry

October 18, 1999

Completed
1 day until next milestone

First Posted

Study publicly available on registry

October 19, 1999

Completed
Last Updated

October 22, 2020

Status Verified

October 1, 2020

First QC Date

October 18, 1999

Last Update Submit

October 20, 2020

Conditions

Neutropenia

Keywords

chronic neutropeniadisease-related problem/conditionhematologic disordersneutropeniarare diseasesevere chronic neutropenia

Study Arms (3)

Adult Neutropenic Subject

Adult subjects with diagnosis of severe chronic neutropenia

Minor Neutropenic Subject

Children under 18 years of age who are diagnosed with severe chronic neutropenia

Parent of Minor Neutropenic Subjects

Parent of minor subjects (i.e., children under 18 years of age) who are diagnosed with severe chronic neutropenia

Eligibility Criteria

Age3 Months+
Sexall
Healthy VolunteersNo
Age GroupsChild (0-17), Adult (18-64), Older Adult (65+)
Sampling MethodNon-Probability Sample
Study Population

patients diagnosed with severe chronic neutropenia

You may qualify if:

  • A confirmed diagnosis of severe chronic neutropenia based on documented absolute neutrophil counts of less than 0.5x109/L on at least three occasions in the three months prior to enrollment.
  • For subjects with presumed cyclic neutropenia, documentation of at least two neutrophil cycles is preferred. Documentation should include the nadirs with neutrophil counts of less than 200 followed by a clear increase in the counts generally to at least 500 to 1000 followed by a second nadir, usually expected to occur at about three weeks after the first nadir, i.e., cycling with a three week periodicity. Documentation with at least six weeks of counts and two expected nadirs is preferred.
  • Cases not showing clear oscillations will be categorized as congenital (if neutropenia or neutropenic complications appear to have occurred from birth) or idiopathic (if all symptoms in evidence point to an acquired disorder occurring after the first year of life).
  • Bone marrow aspiration consistent with the diagnosis of congenital, cyclic or idiopathic neutropenia. In all of these conditions, it is expected that the marrow aspirate evaluation at the time of neutropenia will show a deficiency of mature neutrophils. An exception is myelokathexis, a condition with large accumulations of neutrophils with pycnotic nuclei in the marrow. Bone marrow aspirates may show some dyspoiesis of the neutrophil lineage, but abnormalities of erythropoiesis or platelet formation are, in general, inconsistent with the diagnosis of SCN.
  • Normal cytogenetic evaluation. The only exception being cases of well documented severe congenital neutropenia with preferably previously documented normal cytogenetic evaluation will now be enrolled in the Registry at the time of evolution to leukemia.
  • History of recurrent infections (i.e., severe mouth ulcers, gingivitis and sinusitis).
  • Age greater than three months.
  • Independent of hematological parameters, subjects with the following diagnoses may be included: Shwachman-Diamond syndrome (SDS), glycogen storage disease type 1b (GSD1b), Barth syndrome, and Cohen's syndrome.
  • Subjects with moderately severe chronic neutropenia (i.e., ANC less than 1.0x109/L) and recurrent severe infections (i.e., deep tissue infections of subcutaneous areas, lungs, liver, etc.).
  • Immune neutropenia with positive anti-neutrophil antibodies meeting criteria in 1, 3, 5 and 6.
  • All SCN subjects originally enrolled in Amgen-sponsored SCN studies.

You may not qualify if:

  • Neutropenia known to be drug induced
  • Primary myelodysplasia
  • Primary leukemia
  • Aplastic anemia
  • Known HIV disease
  • Systemic autoimmune diseases such as rheumatoid arthritis or systemic lupus erythematosus
  • Chemotherapy-induced neutropenia (within the last 5 years)

Contact the study team to confirm eligibility.

Sponsors & Collaborators

Study Sites (10)

Dana-Farber/Boston Children¹s Cancer and Blood Disorders Center

Boston, Massachusetts, 02115, United States

RECRUITING

University of Massachusetts

Worcester, Massachusetts, 01655, United States

RECRUITING

University of Michigan

Ann Arbor, Michigan, 48109-0266, United States

RECRUITING

St. Joseph's Children's Hospital

Paterson, New Jersey, 07503, United States

RECRUITING

University of Washington School of Medicine

Seattle, Washington, 98195, United States

RECRUITING

Monash University

Melbourne, Victoria, 3350, Australia

RECRUITING

CancerCare Manitoba

Winnipeg, Manitoba, R3E 0V9, Canada

RECRUITING

Hospital for Sick Children

Toronto, Ontario, M5G 1X8, Canada

RECRUITING

Medizinische Hochschule Hannover

Hanover, D-30625, Germany

RECRUITING

Leeds Teaching Hospitals, Yorkshire Regional Centre for Paediatric Oncology & Haematology

Leeds, England, LS1 3EX, United Kingdom

RECRUITING

Related Publications (4)

  • Dale DC, Bonilla MA, Boxer L, et al.: Development of AML/MDS in a subset of patients (PTS) with severe chronic neutropenia (SCN). Blood 84(10 suppl 1): 518a, 1994.

    BACKGROUND

  • Guerra J, Withers DA, Boxer LM. Myb binding sites mediate negative regulation of c-myb expression in T-cell lines. Blood. 1995 Sep 1;86(5):1873-80.

    PMID: 7655015BACKGROUND

  • Welte K, Dale D. Pathophysiology and treatment of severe chronic neutropenia. Ann Hematol. 1996 Apr;72(4):158-65. doi: 10.1007/s002770050156.

    PMID: 8624368BACKGROUND

  • Kalra R, Dale D, Freedman M, Bonilla MA, Weinblatt M, Ganser A, Bowman P, Abish S, Priest J, Oseas RS, Olson K, Paderanga D, Shannon K. Monosomy 7 and activating RAS mutations accompany malignant transformation in patients with congenital neutropenia. Blood. 1995 Dec 15;86(12):4579-86.

    PMID: 8541548BACKGROUND

Biospecimen

Retention: SAMPLES WITH DNA

Blood, Bone marrow, saliva

MeSH Terms

Conditions

NeutropeniaHematologic DiseasesRare DiseasesNeutropenia, severe chronic

Condition Hierarchy (Ancestors)

AgranulocytosisLeukopeniaCytopeniaHemic and Lymphatic DiseasesLeukocyte DisordersDisease AttributesPathologic ProcessesPathological Conditions, Signs and Symptoms

Study Officials

  • David Chandler Dale

    University of Washington

    STUDY CHAIR

Study Design

Study Type
observational
Observational Model
OTHER
Time Perspective
CROSS SECTIONAL
Sponsor Type
NIH
Responsible Party
PRINCIPAL INVESTIGATOR
PI Title
Professor of Medicine

Study Record Dates

First Submitted

October 18, 1999

First Posted

October 19, 1999

Study Start

June 1, 1994

Last Updated

October 22, 2020

Record last verified: 2020-10

Locations

AU(1)CA(2)GB(1)US(5)DE(1)