Idiopathic subglottic stenosis (iSGS) is a rare disease characterized by unexplained and often recurrent narrowing of the upper trachea. Patients present struggling to breathe. It is a disease that is chronic, progressive, disabling, and potentially fatal. Its chronic nature increases the impact of the condition on both affected individuals and their families. Patient quality of life is affected by limitations in everyday activities (such as walking or climbing stairs) and by communication and swallowing difficulties. This often culminates in patients having a social or emotional disability, leading to isolation as they struggle to maintain normal lives.
Those with this disease often require several surgeries per year. A variety of options are available but are generally categorized into: (1) endoscopic dilation of the tracheal stenosis, accomplished with rigid instruments or inflatable balloons; (2) endoscopic resection of the stenosis, with prolonged medical therapy after surgery; or (3) open neck surgery, with resection of the affected tracheal segment with end-to-end anastomosis. Patients can require several surgeries each year to maintain airway patency. All approaches have unique and often disabling associated side effects, which can significantly affect patient quality of life. Unfortunately, there is no information available that directly compares the three options.
Rare diseases like iSGS seem a miniscule corner of health care when considered in isolation; however, when taken cumulatively with the 7,000 other unique rare diseases recognized in the United States, they affect more than 30 million individuals, or 10 percent of our population. For perspective, this is a disease magnitude similar to that of diabetes. Nonetheless, iSGS and other rare diseases are often marginalized in healthcare research. A byproduct of this marginalization is that patients can face long delays in diagnosis as well as uncertain and varied treatment outcomes that together culminate in greater psychological and physical burdens for both patients and their loved ones.
All patients presenting with a new diagnosis of iSGS will be candidates for enrollment. Recruitment of patients from multiple institutions will enable rigorous treatment comparisons to determine how well the most commonly used treatments in iSGS work and what quality-of-life trade-offs are associated with each approach. The study seeks to provide the critical information to patients to allow them to answer the questions: (1) Given my personal characteristics, conditions, and preferences, what should I expect will happen to me? and (2) What are my options, and what are the potential benefits and harms of these options?