Recruiting

Mycobacterial Infections

Sponsor:

National Institute of Allergy and Infectious Diseases (NIAID)

Code:

NCT00018044

Conditions

Mycobacterium Infections

Eligibility Criteria

Sex: All

Age: 0 - 70+

Healthy Volunteers: Accepted

Interventions

Clofazimine

Study Details

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

Study ID

NCT00018044

Start date

Jan 1, 2001

Status verified date

Sep 1, 2026

Eligibility Criteria

Eligibility Criteria

Sex: All

Age: 0 - 70+

Healthy Volunteers: Accepted

  • INCLUSION CRITERIA FOR PATIENTS:

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.

INCLUSION CRITERIA FOR RELATIVES:

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.

EXCLUSION CRITERIA:

None.

Study Design

Enrollment

1000 participants

Anticipated

Interventions and Outcome Measures

Arms

Patient Relatives

Blood relatives of enrolled patients

Patients

Patients with mycobacterial infections

Interventions

Clofazimine

Primary outcome measure

  • 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... [ Time Frame: ongoing ]

Central Contacts and Locations

Central contacts

Samantha A Kreuzburg, R.N.

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

Steven M Holland, M.D.

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

Locations

National Institutes of Health Clinical Center

Recruiting

Bethesda, Maryland, United States, 20892

More Information

Sponsor

National Institute of Allergy and Infectious Diseases (NIAID)

Last update posted

Sep 8, 2026

Last verified

Sep 1, 2026

Keywords

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

Trial information was received from ClinicalTrials.gov and was last updated on 2026-09-10. This information was provided to ClinicalTrials.gov by National Institute of Allergy and Infectious Diseases (NIAID) on 2026-09-08.