Clinical Trials

Inclusion Criteria:

• Males or females age ≥ 18 years old.
• Must understand and provide written informed consent and HIPAA authorization. For those without capacity to consent for themselves, a legally authorized representative may provide informed consent/HIPAA.
• Negative urine pregnancy test for women of child-bearing potential.

Diagnosis Status - Cohort 1:

• Confirmed diagnosis of iSGS;
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• At least one other family member (parents, siblings, adult children, aunts, uncles, or first cousins) with a confirmed diagnosis of iSGS who has been identified to participate in the study (must be enrolled in group of at least 3 – 2 affected family members + 1 unaffected family member).

Diagnosis Status - Cohort 2:

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• Unaffected family member (parents, siblings, adult children, aunts, uncles, or first cousins) of at least 2 family members diagnosed with iSGS and who has been identified to participate in the study as part of Cohort 1. (Must be enrolled in group of at least 3 – 2 affected family members + 1 unaffected family member).

Diagnosis Status - Cohort 3:

• Confirmed diagnosis of iSGS scheduled for a standard of care biopsy procedure at Mayo Clinic who are willing to participate in the study;
• No known family history of iSGS.

Diagnosis Status - Cohort 4:

• Diagnosed upper airway disease other than iSGS who are undergoing a standard of care biopsy procedure at Mayo Clinic and are willing to participate in the study.

Exclusion Criteria:

Cohort 1:

• Persons with additional conditions including:
  • Endotracheal intubation within 3 years prior to onset of symptoms;
  • Tracheal surgery or manipulation within 3 years prior to the onset of symptoms;
  • Previous laryngeal or tracheal trauma;
  • Previous tracheal resection;
  • Has diagnosis of Wegener’s granulomatosis, collagen vascular disease, amyloidosis, or sarcoidosis.

Cohort 2:

• Persons who do not have a confirmed diagnosis of iSGS, but have other conditions including:
  • Endotracheal intubation within 3 years prior to onset of symptoms;
  • Tracheal surgery or manipulation within 3 years prior to the onset of symptoms;
  • Previous laryngeal or tracheal trauma;
  • Previous tracheal resection;
  • Has diagnosis of Wegener’s granulomatosis, collagen vascular disease, amyloidosis, or sarcoidosis.
• Persons with confirmed diagnosis of iSGS.

Cohort 3:

• None.

Cohort 4:

• None.

Subjects that do not meet all the enrollment criteria may not be enrolled. Any violations of these criteria must be reported in accordance with IRB Policies and Procedures.

Note: Other protocol defined Inclusion/Exclusion Criteria may apply.

Eligibility last updated 11/22/23. Questions regarding updates should be directed to the study team contact.