Natural History, Genetics, Phenotype, and Treatment of Mycobacterial Infections

Status: Recruiting
Location: See location...
Intervention Type: Drug
Study Type: Observational
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. ...

Eligibility
Participation Requirements
Sex: All
Maximum Age: 100
Healthy Volunteers: t
View:

• 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.

Locations
United States
Maryland
National Institutes of Health Clinical Center
RECRUITING
Bethesda
Contact Information
Primary
Samantha A Kreuzburg, R.N.
samantha.kreuzburg@nih.gov
(301) 443-2163
Backup
Steven M Holland, M.D.
sholland@mail.nih.gov
(301) 402-7684
Time Frame
Start Date: 2001-01-01
Participants
Target number of participants: 1000
Treatments
Patient Relatives
Blood relatives of enrolled patients
Patients
Patients with mycobacterial infections
Sponsors
Collaborators: Children's National Research Institute, University of Miami
Leads: National Institute of Allergy and Infectious Diseases (NIAID)

This content was sourced from clinicaltrials.gov