Clinical Trials

Do you have symptoms of a lung disease (such as long-term wet cough, bronchiectasis, or recurrent pneumonia) with no genetic diagnosis? This study aims to develop new ways to diagnose primary ciliary dyskinesia (PCD) or primary immune deficiency (PID), two conditions that can have similar symptoms. Researchers will combine information from genetic testing, lung imaging, and lung function tests to diagnose and tell the difference between these two conditions. Participants in this study must be 5 to 45 years old and must have symptoms of a serious lung disease but no diagnosis. This study is taking place at multiple locations in the United States and in Canada, including the NIH Clinical Center in Bethesda, Maryland.

Do you or your child have PCD and want to help researchers better understand how cilia are formed? This study aims to identify the genes that control how cilia are formed. Cilia are hairlike structures that line the airways and protects the normal lung. The study will also identify how mutations to these genes can cause PCD. This study takes place in Chapel Hill, North Carolina.

Do you or your child have primary ciliary dyskinesia (PCD) or primary immune deficiency (PID)? This study aims to identify genes that cause these two conditions, which can have similar symptoms. The results from this study will help researchers find new ways to treat breathing and hearing problems caused by these two conditions in a cross-sectional cohort of patients with PCD and PID. Participants in this study must be 5 to 45 years old. This study is taking place at multiple locations in the United States and in Canada.

Do you or your child have symptoms of a serious lung disease but no diagnosis? This study aims to develop new ways to diagnose primary ciliary dyskinesia (PCD) and primary immune deficiency (PID), two conditions that can have similar symptoms. Researchers will combine information from genetic testing, lung imaging, and lung function tests to diagnose ant tell the difference between these two conditions. Participants in this study must be 5 to 45 years old. This study is taking place at multiple locations in the United States and in Canada.

The investigators propose to study the relationship between right ventricle (RV) steatosis and RV function, exercise capacity, and outcomes in humans with pulmonary arterial hypertension (PAH) and to identify potential drivers of lipid accumulation.

The Investigators propose a randomized trial of smart texts versus usual care for 6 months. The Investigators will randomize 100 PAH patients to the mHealth intervention or usual care. The Investigators will test the effect of a text-based mHealth intervention on HRQOL in PAH using the PAH-specific emPHasis-10 questionnaire. The Investigators will also test the effect of an mHealth intervention on exercise capacity, measured by a supervised home-based 6MWD test. Finally, the Investigators will examine the effect of the intervention on time to clinical worsening (composite of PAH therapy escalation, PAH hospitalization, and death) one year after randomization.

The purpose of this research is to learn about how salt in the diet influences blood pressure in young adults who were born prematurely.

The investigators propose to study the relationship between right ventricle (RV) steatosis and RV function, exercise capacity, and outcomes in humans with pulmonary arterial hypertension (PAH) and to identify potential drivers of lipid accumulation.

Patients with pulmonary arterial hypertension (PAH) have reduced health related quality of life (HRQOL) and impaired exercise capacity. Despite fourteen approved therapies, most patients die within ten years. Increasing physical activity is highly efficacious in PAH, resulting in six-minute walk distance (6MWD) and HRQOL improvement that often exceeds the effect of medications. Prior activity studies required inpatient rehabilitation, which is impractical, hard to sustain, and poorly scalable to a rare disease.

The Investigators propose a randomized trial of smart texts versus usual care for 6 months. The Investigators will randomize 100 PAH patients to the mHealth intervention or usual care. The Investigators will test the effect of a text-based mHealth intervention on HRQOL in PAH using the PAH-specific emPHasis-10 questionnaire. The Investigators will also test the effect of an mHealth intervention on exercise capacity, measured by a supervised home-based 6MWD test. Finally, the Investigators will examine the effect of the intervention on time to clinical worsening (composite of PAH therapy escalation, PAH hospitalization, and death) one year after randomization.

The investigators' central hypothesis is that early combination therapy with two PAH-specific oral therapies that have been shown to be well tolerated in the pediatric population, sildenafil and bosentan, will result in better World Health Organization (WHO) functional class at 12 months after initiation of PAH treatment than therapy with sildenafil alone.