Defining the Genetic Etiology of Suppurative Lung Disease in Children and Adults

Summary

The investigators will utilize a systematic approach for the diagnostic evaluation of patients to identify characteristics which may distinguish between Primary Immunodeficiency (PID) disorders versus Primary Ciliary Dyskinesia (PCD).

Conditions

• Primary Ciliary Dyskinesia
• Primary Immune Deficiency
• Kartagener Syndrome

Interventions

DIAGNOSTIC_TEST

Genetic Testing for PCD or PID

Patients with high likelihood of a PID disorder or a high likelihood of PCD will initially undergo research genetic testing on a commercial approved panel for PID disorders or a panel of at least 37 PCD genes.

OTHER

Unaffected Family Member Genetic Testing

Unaffected family members will undergo genetic testing if genetic findings are identified in their affected family member.

Sponsors & Collaborators

• Washington University School of Medicine

  collaborator OTHER

• National Heart, Lung, and Blood Institute (NHLBI)

  collaborator NIH

• Children's Hospital Colorado

  collaborator OTHER

• Stanford University

  collaborator OTHER

• Seattle Children's Hospital

  collaborator OTHER

• The Hospital for Sick Children

  collaborator OTHER

• McGill University

  collaborator OTHER

• Children's Hospital Medical Center, Cincinnati

  collaborator OTHER

• University of North Carolina, Chapel Hill

  lead OTHER

Principal Investigators

• Kenneth Olivier, MD, MPH · University of North Carolina, Chapel Hill

Eligibility

Min Age

5 Years

Max Age

45 Years

Sex

ALL

Healthy Volunteers

No

Timeline & Regulatory

Start

2020-12-01

Primary Completion

2025-08-06

Completion

2025-08-06

Countries

• United States
• Canada

Study Locations