Completed

Cytokine Gene Polymorphisms in Bone Marrow Failure

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What is being collected

Data Collection

Who is being recruted

Bone Marrow Failure Disorders
+2

+ Cytopenia
+ Bone Marrow Diseases
From 2 to 80 Years
See all eligibility criteria
How is the trial designed

Cohort

Tracking disease incidence in order to identify risk factors and understand disease progression over time.
Observational
Study Start: February 2005
See protocol details

Summary

Principal SponsorNational Heart, Lung, and Blood Institute (NHLBI)
Last updated: January 14, 2026
Sourced from a government-validated database.Claim as a partner
Study start date: February 11, 2005Actual date on which the first participant was enrolled.

The NHLBI Hematology Branch is investigating features that may affect the clinical course of bone marrow failure patients. We are particularly interested in identifying factors, which determine treatment response and outcome. Cytokines are biological mediators of the immune response. In a normal population there is considerable variation in the precise sequence of the genes which control cytokine production (Cytokine Gene Polymorphism or CGP). As a consequence individuals differ in the quality of the immune response they mount against self or foreign antigens. Since the bone marrow failure disorders aplastic anemia and myelodysplastic syndrome involve auto-immune suppression of marrow function, it is important to discover whether there are any recurrent patterns of cytokine production in these disorders which may contribute to the marrow failure. This can be done by studying the sequences of the genes that control cytokine production to find out whether there are any recurrent gene patterns in the diseases studied. In addition we need to understand why some patients fail to respond to immunosuppressive treatments. By comparing CGP in responders and non-responders we may be able to find patterns of cytokine production that are favorable or unfavorable for response. Better understanding of CGPs in marrow failure syndromes should make it possible to improve the outcome for patients who fail immune suppression by using drugs which block specific cytokines. None of these polymorphisms are associated with known clinical disease to be classifiable as a 'genetic defect'. All testing will be done on samples collected and stored for research purposes from consenting bone marrow failure subjects who have or will be participating on Hematology Branch research protocols.

Official TitleCytokine Gene Polymorphisms in Bone Marrow Failure 
NCT00085670
Principal SponsorNational Heart, Lung, and Blood Institute (NHLBI)
Last updated: January 14, 2026
Sourced from a government-validated database.Claim as a partner

Protocol

This section provides details of the study plan, including how the study is designed and what the study is measuring.
Design Details
79 patients to be enrolledTotal number of participants that the clinical trial aims to recruit.
Cohort
These studies follow a group of individuals with common characteristics (such as a condition or birth year) over a specific period to study health outcomes or exposures.

How participants are selected
Participants are selected without using randomization. They may be chosen based on convenience, access, or willingness to participate. This approach is common when random selection isn’t practical.
Another way to select participants is through a probability sample, where participants are chosen randomly, so everyone has an equal chance to be included.

How information is collected
Some studies use alternative or combined approaches that don't fit strictly into prospective, retrospective, or cross-sectional models. These may include hybrid timelines, simulations, or adaptive observational methods.Other Ways to Collect Data
Prospective: These studies collect new data moving forward over time.
Retrospective: These studies use existing medical records or past data.
Cross-sectional: These studies collect data at one single point in time.

Eligibility

Researchers look for people who fit a certain description, called eligibility criteria: person's general health condition or prior treatments.
Conditions
Criteria
Any sexBiological sex of participants that are eligible to enroll.
From 2 to 80 YearsRange of ages for which participants are eligible to join.
Healthy volunteers not allowedIf individuals who are healthy and do not have the condition being studied can participate.
Conditions
Pathology
Bone Marrow Failure Disorders
Cytopenia
Bone Marrow Diseases
Hematologic Diseases
Pancytopenia
Criteria

* INCLUSION CRITERIA: Participation on a Hematology Branch bone marrow failure treatment protocol. Diagnosis with one of the following bone marrow failure conditions: Acquired aplastic anemia Myelodysplastic syndrome (MDS) Pure red cell aplasia (PRCA) For adults: Ability to comprehend the investigational nature of the study and provide informed consent. For minors: Written informed consent from one parent or guardian. Informed assent from minors: The process will be explained to the minor on a level of complexity appropriate for their age and ability to comprehend. Age greater than or equal to 2 and less than or equal to 80. EXCLUSION CRITERIA: Subjects unable to comprehend the investigational nature of the laboratory research.

Study Plan

Find out more about all the medication administered in this study, their detailed description and what they involve.
Study Objectives
Study Objectives
Primary Objectives

Ongoing
Secondary Objectives

Study Centers

These are the hospitals, clinics, or research facilities where the trial is being conducted. You can find the location closest to you and its status.
This study has 1 location
Suspended
National Institutes of Health Clinical Center, 9000 Rockville PikeBethesda, United StatesSee the location
CompletedOne Study Center
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