Mycobacterium InfectionsNCT00018044
Study of Mycobacterial Infections
An observational study of Mycobacterium Infections, run by National Institute of Allergy and Infectious Diseases (NIAID) at 1 site in United States.
Trial 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. Read more about this study
- Who is it for?
- Ages Up to 100 yearsHealthy volunteers can take part
- Conditions the study is for
- Mycobacterium Infections
- What is being tested?
- Clofazimine
- How many people
- 1,000 participants
- Where
- 1 siteUnited States
- Study dates
- 1 Jan 2001to not given
- Phase
- Observational
- Are there results?
- Not yet: the study is under way
Key requirements
Who can take part, as listed by the sponsor. Only the study team can confirm whether you are eligible, so take this list to your doctor.
- Ages Up to 100 years
- All sexes
- Healthy volunteers accepted
- Child, Adult, Older adult
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.
Who may be able to join
- 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 limitation due to age, including viable neonates. Only patients with nontuberculous mycobacterial infections without HIV infection will be considered for long-term disease management.
- As a part of this protocol we may obtain medical records, blood work, urine, saliva or buccal swab from some blood relatives of patients, male or female including viable neonates, on the study, with the hope of isolating and characterizing the primary immune defect(s) responsible for mycobacterial infection susceptibility and 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.
Who cannot join
- None.
Trial locations and contacts
1 site in 1 country. Contact the study team or a site near you to ask about taking part.
United States1 site, 1 recruiting
- Recruiting
National Institutes of Health Clinical Center
Bethesda, Maryland, 20892
About this study
Official title: Natural History, Genetics, Phenotype, and Treatment of Mycobacterial Infections
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:
Read more
- 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.
...
Read the detailed description
The nontuberculous mycobacteria (NTM) are ubiquitous environmental organisms found in soil and water that rarely cause disease in humans. Since exposure to these organisms is universal and disease is rare, it can be concluded that normal host defenses are almost always sufficient to prevent infection. It follows that otherwise healthy individuals who develop disease must have abnormal susceptibility or immune defects that permit infection with nontubercuolous mycobacteria. The organisms that are most commonly encountered in clinical practice include Mycobacterium avium, and M. intracellulare [collectively known as the M. avium complex (MAC)], M. kansasii, M. fortuitum, M. abscessus, and M. chelonae. These organisms share significant structural and biochemical similarities with their more pathogenic relative, M. tuberculosis (MTB). Recognition of host factors that predispose or lead to NTM infection may have important implications for pathogenesis and therapeutic intervention, and may be applicable to the more virulent MTB. Identification of genetic or acquired susceptibility factors may lead to recognition of endogenous pathways that can be exploited therapeutically and to possible gene identification.
Over the last two decades, three important observations have been made regarding the pathogenesis of nontuberculous mycobacterial infections. 1) In patients infected with HIV, nontuberculous mycobacterial infections often occur when the CD4+ T-lymphocyte number falls below 50/mm3. This suggested that specific T cell products or activities were required for mycobacterial resistance. 2) An association was noted between pulmonary nontuberculous mycobacterial infections and a particular body habitus, predominantly in post-menopausal women (pectus excavatum, scoliosis, mitral valve prolapse). 3) Multiple defects have been found involving the interferon gamma synthesis and use pathways in patients with disseminated nontuberculous mycobacterial infection without HIV, suggesting this is a critical pathway for host defense against these organisms.
We seek to better characterize the predisposition to mycobacterial infection. This study will specifically address several aspects of immune function and investigate the proposed link to body morphotype in the relevant population. By collecting this information, we hope to provide insight into disease associations, infection susceptibility, and genetic predisposition to mycobacterial infection.
- Conditions
- Mycobacterium Infections
- Being tested
- Clofazimine
- Keywords
- Mycobacterium Abscessus, Pulmonary, Mycobacterium Chelonae, Mycobacterium Avium Complex (MAC), Nontuberculous Mycobacteria (NTM), Natural History
- Medical subject headings
- Mycobacterium Infections, Mycobacterium Infections, Nontuberculous, Mycobacterium avium-intracellulare Infection
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
ClofazimineDrug
| Study group | Role | What they receive |
|---|---|---|
| Patient Relatives | Blood relatives of enrolled patients | |
| Patients | Patients with mycobacterial infections Receives: Drug: Clofazimine |
What is being measured
The primary outcome is the main question the study is designed to answer.
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
Measured: ongoing
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted29 Jun 2001 (estimated)
- Study start1 Jan 2001
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Publications (3)Papers the sponsor has linked to this study.
- Other trials for Mycobacterium InfectionsStudies of the same condition, open and under way.
- More trials run by National Institute of Allergy and Infectious Diseases (NIAID)The sponsor's other registered studies.
- What the trial phases meanHow a treatment moves from first tests in people to approval.
More details
For doctors and researchers: how the study is designed, who runs it, and its registry IDs.
Study design
- Study type
- Observational
- Observational model
- Cohort
- Time perspective
- Cross-sectional
- Enrolment
- 1,000 participants (estimated)
Sponsor and investigators
- Sponsor type
- US National Institutes of Health
- Collaborators
- Children's National Research Institute, University of Miami
- Responsible party
- Sponsor
- Investigators
- Steven M Holland, M.D., Principal investigator, National Institute of Allergy and Infectious Diseases (NIAID)
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT00018044
- Sponsor's protocol ID
- 010202
- Other IDs
- 01-I-0202
- Status last verified
- 19 Oct 2026
- First submitted
- 28 Jun 2001
- Last updated
- 5 Nov 2026
- Results posted
- No
- FDA-regulated drug
- No
- FDA-regulated device
- No
Publications
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.
PubMed 24077845Purisch 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.
PubMed 23344397Calvo 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.
PubMed 21508125
Study at a glance
From the registry record, last updated by the sponsor on 5 Nov 2026. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Natural History, Genetics, Phenotype, and Treatment of Mycobacterial Infections
- ClinicalTrials.gov ID
- NCT00018044
- Acronym / sponsor ID
- 010202
- Conditions
- Mycobacterium Infections
- Keywords
- Mycobacterium Abscessus, Pulmonary, Mycobacterium Chelonae, Mycobacterium Avium Complex (MAC), Nontuberculous Mycobacteria (NTM), Natural History
- Study type
- Observational
- Recruitment status
- Recruiting
- Enrolment
- 1,000 participants (estimated)
- Lead sponsor
- National Institute of Allergy and Infectious Diseases (NIAID)US National Institutes of Health
- Collaborators
- Children's National Research Institute, University of Miami
- Study start
- 1 Jan 2001 (actual)
- First posted
- 29 Jun 2001 (estimated)
- Results
- Not posted in the source record
Clinical summary
The research question as the sponsor registered it. This describes what the study plans to test, not what it found.
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.
...
Detailed description
The nontuberculous mycobacteria (NTM) are ubiquitous environmental organisms found in soil and water that rarely cause disease in humans. Since exposure to these organisms is universal and disease is rare, it can be concluded that normal host defenses are almost always sufficient to prevent infection. It follows that otherwise healthy individuals who develop disease must have abnormal susceptibility or immune defects that permit infection with nontubercuolous mycobacteria. The organisms that are most commonly encountered in clinical practice include Mycobacterium avium, and M. intracellulare [collectively known as the M. avium complex (MAC)], M. kansasii, M. fortuitum, M. abscessus, and M. chelonae. These organisms share significant structural and biochemical similarities with their more pathogenic relative, M. tuberculosis (MTB). Recognition of host factors that predispose or lead to NTM infection may have important implications for pathogenesis and therapeutic intervention, and may be applicable to the more virulent MTB. Identification of genetic or acquired susceptibility factors may lead to recognition of endogenous pathways that can be exploited therapeutically and to possible gene identification.
Over the last two decades, three important observations have been made regarding the pathogenesis of nontuberculous mycobacterial infections. 1) In patients infected with HIV, nontuberculous mycobacterial infections often occur when the CD4+ T-lymphocyte number falls below 50/mm3. This suggested that specific T cell products or activities were required for mycobacterial resistance. 2) An association was noted between pulmonary nontuberculous mycobacterial infections and a particular body habitus, predominantly in post-menopausal women (pectus excavatum, scoliosis, mitral valve prolapse). 3) Multiple defects have been found involving the interferon gamma synthesis and use pathways in patients with disseminated nontuberculous mycobacterial infection without HIV, suggesting this is a critical pathway for host defense against these organisms.
We seek to better characterize the predisposition to mycobacterial infection. This study will specifically address several aspects of immune function and investigate the proposed link to body morphotype in the relevant population. By collecting this information, we hope to provide insight into disease associations, infection susceptibility, and genetic predisposition to mycobacterial infection.
Study design
- Observational model
- Cohort
- Time perspective
- Cross-sectional
- Number of arms
- 2
| Arm | Type | Receives |
|---|---|---|
| Patient Relatives | – | –Blood relatives of enrolled patients |
| Patients | – | Drug: ClofaziminePatients with mycobacterial infections |
Who may qualify
- Ages
- Up to 100 years
- Sex
- All
- Healthy volunteers
- Accepted
- Age groups
- Child, Adult, Older adult
- 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.
Key inclusion criteria (3 listed)
- 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 limitation due to age, including viable neonates. Only patients with nontuberculous mycobacterial infections without HIV infection will be considered for long-term disease management.
- As a part of this protocol we may obtain medical records, blood work, urine, saliva or buccal swab from some blood relatives of patients, male or female including viable neonates, on the study, with the hope of isolating and characterizing the primary immune defect(s) responsible for mycobacterial infection susceptibility and 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.
Key exclusion criteria (1 listed)
- None.
Eligibility is decided by the study team after screening; this overview does not establish that a patient qualifies. Full inclusion and exclusion criteria.
Interventions
| Intervention | Type | Arms |
|---|---|---|
| Clofazimine | Drug | Patients |
Primary outcome
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
Collecting information on mycobacterial infections
Results and safety
This study is still under way. Results are not available in the source record yet.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 5 Nov 2026.
- Derived from this study: PubMed 24077845West 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.
- Derived from this study: PubMed 23344397Purisch 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.
- Derived from this study: PubMed 21508125Calvo 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.
- NIH Clinical Center Detailed Web PageLink provided by the sponsor.
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Referral and contact
AzTrials does not enrol participants or take referrals. Contact the study team or a site listed below; they decide who can take part.
Steven M Holland, M.D. principal investigator
National Institute of Allergy and Infectious Diseases (NIAID)
1 site in 1 country: see every site and its status.
Questions about this trial
What is this clinical trial studying?
An observational study of Mycobacterium Infections, run by National Institute of Allergy and Infectious Diseases (NIAID) at 1 site in United States.
The full registered description is in the About this study section and the official record.
Who may be eligible to take part?
The sponsor lists 3 inclusion and 1 exclusion criteria. Eligibility is decided by the study team after screening, so read the full criteria and contact a listed site.
Is this clinical trial currently recruiting?
The record says: looking for participants now, as of the sponsor's last update on 5 Nov 2026. Status can change between updates, so confirm with the study contact before making plans.
Where is the study taking place?
The record lists 1 site in United States. Whether a site is taking part right now should be confirmed with that site. See every site.
What are the possible benefits and risks?
They depend on the study and the treatment, and no study can promise a benefit. The study team explains the known risks during informed consent, before anyone joins; the record itself does not list them.
Are results available for this study?
This study is still under way. Results are not available in the source record yet.
How can a doctor refer a patient or contact the research team?
Contact Samantha A Kreuzburg, R.N. ((301) 443-2163, samantha.kreuzburg@nih.gov), or a site near the patient. AzTrials does not enrol participants or take referrals.
What does the 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). It is what the study was designed to measure, not a finding.
Where can I read the original study information?
On the ClinicalTrials.gov record for NCT00018044, which also lists 3 linked publications.
Does a listing mean the treatment is approved or proven to work?
No. A listing means the study is registered. It does not show that the treatment is safe, works, or is approved by a regulator.
How often is this information updated?
AzTrials copies changed records from ClinicalTrials.gov every night and reloads the whole registry every week. The sponsor last updated this record on 5 Nov 2026.