Study of Mycobacterial Infections

NCT00018044 | Recruiting

• 2 other identifiers: 01020201-I-0202
• Study Type: observational
• Target: 1,000
• Locations: 1 country
• Sites: 1

Brief Summary

This study will examine the symptoms, course of disease and treatment of non-tuberculous mycobacterial (NTM) infections, as well as the genetics involved in these infections. Patients with NTM have recurrent lung infections and sometimes infections of the skin and other organs as well. They may also have curvature of the spine, barrel chest, and heart valve weakness. The study will compare the features of NTM with those of Job syndrome and cystic fibrosis, other diseases involving recurrent infections of the lungs and possibly other organs. Patients with diagnosed or suspected non-tuberculous mycobacterial infection, cystic fibrosis or Job syndrome may be eligible for this study. All participants will have a medical and family history, blood and urine tests, imaging studies that may include X-rays, computed tomography (CT) or magnetic resonance imaging (MRI) scans, and DNA and other genetic studies. In addition, all patients with Job syndrome and cystic fibrosis, and patients with NTM who have lung disease undergo the following procedures:

• Scoliosis survey X-rays of the spine to look for curvature or other abnormalities of the spinal column
• Echocardiography imaging test that uses sound waves to examine the heart chambers and valves
• Electrocardiogram measurement of the electrical activity of the heart
• Pulmonary function tests breathing tests to measure how much air the patient can move into and out of the lungs
• Body measurements measurements of height, weight, arm span, finger length, etc.
• Joint function assessment of joint mobility using different maneuvers to test flexibility of joints and ligaments
• Examination of physical features that might be associated with NTM, such as high arched palate of the mouth, flat feet, or certain skin features
• Dermatology (skin) examination for reactive skin conditions or other skin problems and possibly a skin biopsy (surgical removal of a small skin tissue sample for microscopic examination)
• Interview with genetics specialist These tests may require several days to complete. Patients with NTM will also be examined by a cystic fibrosis specialist and may have a sweat test. In addition, NTM patients will be asked to return to NIH every year for 5 years for follow-up tests, if medically indicated, including CT of the chest, scoliosis survey and examination by other specialists.

Conditions

Mycobacterium Infections

Keywords

Mycobacterium Abscessus; Pulmonary; Mycobacterium Chelonae; Mycobacterium Avium Complex (MAC); Nontuberculous Mycobacteria (NTM); Natural History

Outcome Measures

Primary Outcomes (1)

• Collect patients with nontuberculous mycobacterial infections in order to identify known and novel immune defects, characterize the natural history of these infections in the setting of the best possible standard therapy, and explore the connect...

  Collecting information on mycobacterial infections

  ongoing

Study Arms (2)

Patient Relatives

Blood relatives of enrolled patients

Patients

Patients with mycobacterial infections

Drug: Clofazimine

Interventions

Clofazimine DRUG

Patients

Eligibility Criteria

• Age: Up to 100 Years
• Sex: all
• Healthy Volunteers: Yes
• Age Groups: Child (0-17), Adult (18-64), Older Adult (65+)
• Sampling Method: Non-Probability Sample

Study Population

Patients with mycobacterial infections, including those without previously identified predisposing disease processes as well as individuals with underlying malignancies. Patients with nontuberculous mycobacterial infections will be of particular interest but select patients with acquired immunodeficiencies or tuberculosis may also be studied if relevant host defects are suspected. We may obtain specimens from some blood relatives of enrolled patients.

You may qualify if:

• This protocol will study patients with mycobacterial infections, including those without previously identified predisposing disease processes as well as individuals with underlying malignancies.
• Patients with nontuberculous mycobacterial infections will be of particular interest, as we are interested in isolating and characterizing the primary immune defect(s) responsible for this infection susceptibility.
• Select patients with acquired immunodeficiencies or tuberculosis may also be studied if relevant host defects are suspected.
• Patients must be referred to NIH with a diagnosis or suspicion of having mycobacterial infection.
• Male and female patients will be accepted without limitations due to age.
• Only patients with nontuberculous mycobacterial infections without HIV infection will be considered for long-term disease management.
• As part of this protocol, we may obtain medical records, blood work, urine, saliva or buccal swab from some blood relatives of patients on the study, with the hope of isolating and characterizing the primary immune defect(s) responsible for mycobacterial infection susceptibilityand if there are any genetic links seen within families. We hope to identify families with an apparent genetic susceptibility to respiratory diseases predominantly associated with P-NTM and perform whole genome sequencing within this group to identify genetic mutations accounting for this increased susceptibility. Male and female patients will be accepted without limitation due to age. These relatives will not receive treatment or have any other protocol procedures done unless they become a patient on the study.

You may not qualify if:

• None.

Sponsors & Collaborators

• National Institute of Allergy and Infectious Diseases (NIAID): lead
• University of Miami: collaborator
• Children's National Research Institute: collaborator

Study Sites (1)

National Institutes of Health Clinical Center

Bethesda, Maryland, 20892, United States

RECRUITING

Related Publications (3)

• West RR, Hsu AP, Holland SM, Cuellar-Rodriguez J, Hickstein DD. Acquired ASXL1 mutations are common in patients with inherited GATA2 mutations and correlate with myeloid transformation. Haematologica. 2014 Feb;99(2):276-81. doi: 10.3324/haematol.2013.090217. Epub 2013 Sep 27.

  PMID: 24077845 DERIVED

• Purisch SE, Shanis D, Zerbe C, Merideth M, Cuellar-Rodriguez J, Stratton P. Management of uterine bleeding during hematopoietic stem cell transplantation. Obstet Gynecol. 2013 Feb;121(2 Pt 2 Suppl 1):424-7. doi: 10.1097/aog.0b013e318270ecd3.

  PMID: 23344397 DERIVED

• Calvo KR, Vinh DC, Maric I, Wang W, Noel P, Stetler-Stevenson M, Arthur DC, Raffeld M, Dutra A, Pak E, Myung K, Hsu AP, Hickstein DD, Pittaluga S, Holland SM. Myelodysplasia in autosomal dominant and sporadic monocytopenia immunodeficiency syndrome: diagnostic features and clinical implications. Haematologica. 2011 Aug;96(8):1221-5. doi: 10.3324/haematol.2011.041152. Epub 2011 Apr 20.

  PMID: 21508125 DERIVED

Related Links

• NIH Clinical Center Detailed Web Page

MeSH Terms

Conditions

Mycobacterium Infections; Mycobacterium Infections, Nontuberculous; Mycobacterium avium-intracellulare Infection

Interventions

Clofazimine

Condition Hierarchy (Ancestors)

Actinomycetales Infections; Gram-Positive Bacterial Infections; Bacterial Infections; Bacterial Infections and Mycoses; Infections

Intervention Hierarchy (Ancestors)

Phenazines; Heterocyclic Compounds, 3-Ring; Heterocyclic Compounds, Fused-Ring; Heterocyclic Compounds

Study Officials

• Steven M Holland, M.D.

  National Institute of Allergy and Infectious Diseases (NIAID)

  PRINCIPAL INVESTIGATOR

Central Study Contacts

Samantha A Kreuzburg, R.N.

CONTACT

(301) 443-2163; samantha.kreuzburg@nih.gov

Steven M Holland, M.D.

CONTACT

(301) 402-7684; sholland@mail.nih.gov

Study Design

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

Study Record Dates

• First Submitted: June 28, 2001
• First Posted: June 29, 2001
• Study Start: January 1, 2001
• Last Updated: June 8, 2026

Record last verified: 2026-06-02

Locations

US (1)