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Protocol Details

Natural History, Genetics, Phenotype and Treatment of Mycobacterial Infections

This study is currently recruiting participants.

Summary | Eligibility | Citations | Contacts




Sponsoring Institute

National Institute of Allergy and Infectious Diseases (NIAID)

Recruitment Detail

Type: Participants currently recruited/enrolled
Gender: Male & Female
Min Age: N/A
Max Age: N/A

Referral Letter Required


Population Exclusion(s)


Special Instructions

Currently Not Provided



Recruitment Keyword(s)

Mycobacterial Infection;
Nontuberculous Mycobacterial Infection;
Job's Syndrome;
Job Syndrome;
Cystic Fibrosis;


Atypical Mycobacterium Infections;
Cystic Fibrosis

Investigational Drug(s)


Investigational Device(s)




Supporting Site

National Institute of Allergy and Infectious DiseasesChildren's National Health SystemUniversity of Miami Miller School of Medicine

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.

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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.



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Pectus excavatum and scoliosis Thoracic anomalies associated with pulmonary disease caused by Mycobacterium avium complex

Mycobacterium avium-intracellulare pulmonary infection in HIV-negative patients without preexisting lung disease: diagnostic and management limitations

The epidemiology of nontuberculous mycobacterial diseases in the United States Results from a national survey

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Principal Investigator

Referral Contact

For more information:

Steven M. Holland, M.D.
National Institute of Allergy and Infectious Diseases (NIAID)
BG 10-CRC RM B3-4233
(301) 402-7684

Merertu Tesso
National Institute of Allergy and Infectious Diseases (NIAID)
National Institutes of Health
Building 3
Room 1W03
3 Center Drive
Bethesda, Maryland 20892
(301) 402-7831

Patient Recruitment and Public Liaison Office
Building 61
10 Cloister Court
Bethesda, Maryland 20892-4754
Toll Free: 1-800-411-1222
TTY: 301-594-9774 (local),1-866-411-1010 (toll free)
Fax: 301-480-9793

Clinical Trials Number:


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