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

What this Trial Is About

This research investigates non-tuberculous mycobacterial (NTM) infections, focusing on symptoms, disease progression, treatment, and genetics. It also compares NTM features with those of Job syndrome and cystic fibrosis, which also cause recurrent lung and other organ infections. The study aims to understand the immune and genetic factors that make some individuals susceptible to these infections, which are rare despite widespread exposure to the bacteria. Participants include patients diagnosed or suspected to have NTM infections, cystic fibrosis, or Job syndrome, as well as some of their blood relatives. The study collects medical and family histories, blood and urine tests, imaging such as X-rays, CT or MRI scans, and genetic studies. Additional procedures for patients with Job syndrome, cystic fibrosis, or NTM lung disease include scoliosis X-rays, heart imaging, pulmonary function tests, physical and joint assessments, skin exams, and genetics consultations. Some patients may undergo skin biopsies and sweat tests. Blood relatives may provide samples but do not receive treatment unless they become patients. Participants with NTM are asked to return annually for up to five years for follow-up tests, including chest CT scans and scoliosis surveys. The study measures immune defects and tracks infection progression, using tests like echocardiography, electrocardiograms, and pulmonary function tests. Researchers also assess physical features related to NTM and collect detailed genetic information. The study offers long-term monitoring to better understand disease associations and genetic susceptibility.

Study of Mycobacterial Infections