Cytokine Gene Polymorphisms in Bone Marrow Failure

NCT00085670 | Completed

• 2 other identifiers: 04021304-H-0213
• Study Type: observational
• Target: 79
• Locations: 1 country
• Sites: 1

Brief Summary

This study will examine whether cytokine gene polymorphisms affect the progression or response to therapy of bone marrow failure disorders. Cytokine genes instruct cells to produce proteins called cytokines that influence immune system response. As with many genes, the cytokine genes differ slightly from person to person. These differences are called gene polymorphisms. Different patients with the same bone marrow failure disease often progress and respond to treatment differently. This study will look at the possible role of cytokine gene polymorphisms in these differences. Patients between 2 and 80 years old who have participated in an NHLBI Hematology Branch treatment protocol for acquired aplastic anemia, myelodysplastic syndrome, or pure red cell aplasia are recruited to participate in this study. Blood collected and stored at the time of screening for the treatment protocol will be tested for cytokine gene polymorphisms. No additional tests, procedures, or treatments are involved in this study.

Conditions

Bone Marrow Diseases

Keywords

Tumor Necrosis Factor Alpha (TNF-Alpha); Interferon-Gamma (IFN-Gamma); Transforming Growth Factor Beta 1 (TGF-B1); Interleukin-10 (IL-10); Interleukin-6 (IL-6)

Outcome Measures

Primary Outcomes (1)

• To define the variability that exists in cytokine genes from bone marrow failure patients by typing their DNA for polymorphisms.

  Ongoing

  Ongoing

Secondary Outcomes (1)

• Compare cytokine polymorphisms of normal individuals (public domain studies and 03-H-0121) to those of patients with known bone marrow failure.Correlate cytokine gene polymorphisms of aplastic anemia and other bone marrow failure syndrome patien...

  Ongoing

Study Arms (1)

Group 1

Bone marrow failure subjects

Eligibility Criteria

• Age: 2 Years - 80 Years
• Sex: all
• Healthy Volunteers: No
• Age Groups: Child (0-17), Adult (18-64), Older Adult (65+)
• Sampling Method: Non-Probability Sample

Study Population

This is an ancillary study to a primary treatment protocol. Clinical data from the treatment protocol will be used in this protocol's analyses. 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 bone marrow failure treatment research protocols.

You may qualify if:

• 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.

You may not qualify if:

• Subjects unable to comprehend the investigational nature of the laboratory research.

Sponsors & Collaborators

• National Heart, Lung, and Blood Institute (NHLBI): lead

Study Sites (1)

National Institutes of Health Clinical Center, 9000 Rockville Pike

Bethesda, Maryland, 20892, United States

Location

Related Links

• NIH Clinical Center Detailed Web Page

MeSH Terms

Conditions

Bone Marrow Diseases; Camurati-Engelmann Syndrome

Condition Hierarchy (Ancestors)

Hematologic Diseases; Hemic and Lymphatic Diseases; Osteochondrodysplasias; Bone Diseases, Developmental; Bone Diseases; Musculoskeletal Diseases; Genetic Diseases, Inborn; Congenital, Hereditary, and Neonatal Diseases and Abnormalities

Study Officials

• Neal S Young, M.D.

  National Heart, Lung, and Blood Institute (NHLBI)

  PRINCIPAL INVESTIGATOR

Study Design

• Study Type: observational
• Observational Model: COHORT
• Time Perspective: OTHER
• Sponsor Type: NIH
• Responsible Party: SPONSOR

Study Record Dates

• First Submitted: June 10, 2004
• First Posted: June 11, 2004
• Study Start: February 11, 2005
• Primary Completion: March 14, 2007
• Study Completion: March 14, 2007
• Last Updated: September 10, 2020

Record last verified: 2020-09

Locations

US (1)