Study Results
The study team has not published outcome measurements, participant flow, or safety data for this trial yet. Check back later for updates.
Basic Information
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RECRUITING
1000 participants
OBSERVATIONAL
2001-01-01
Brief Summary
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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
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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
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Keywords
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Study Design
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COHORT
CROSS_SECTIONAL
Study Groups
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Patient Relatives
Blood relatives of enrolled patients
No interventions assigned to this group
Patients
Patients with mycobacterial infections
Clofazimine
Interventions
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Clofazimine
Eligibility Criteria
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Inclusion Criteria
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.
Exclusion Criteria
100 Years
ALL
Yes
Sponsors
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Children's National Research Institute
OTHER
University of Miami
OTHER
National Institute of Allergy and Infectious Diseases (NIAID)
NIH
Responsible Party
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Principal Investigators
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Steven M Holland, M.D.
Role: PRINCIPAL_INVESTIGATOR
National Institute of Allergy and Infectious Diseases (NIAID)
Locations
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National Institutes of Health Clinical Center
Bethesda, Maryland, United States
Countries
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Central Contacts
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References
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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.
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.
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.
Related Links
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NIH Clinical Center Detailed Web Page
Other Identifiers
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01-I-0202
Identifier Type: -
Identifier Source: secondary_id
010202
Identifier Type: -
Identifier Source: org_study_id