Rare Genetic Causes of Bronchiectasis: Paving the Way for Interventional Trials

September 23, 2021 to September 24, 2021

This conference will bring together clinical and translational investigators in rare genetic causes of bronchiectasis, including primary ciliary dyskinesia (PCD), primary immunodeficiencies (PID), alpha-1 anti-trypsin disease (AATD) and cystic fibrosis (CF), to discuss preparing for collaborative multicenter clinical trials. In this day and a half-long conference, presenters will address critical knowledge gaps in disease pathogenesis, clinical trial preparedness and overcoming barriers to successful trials in these rare disease populations.

Speakers will provide state of the art updates on the diagnosis and major sources of morbidity in these conditions, as well as commonalities and differences in bronchiectasis pathogenesis, with an emphasis on potential therapeutic targets. Lessons learned from previous clinical trials, particularly in CF, will be presented, in order to capitalize on previous experience as we plan future clinical trials. The strengths and weaknesses of potential clinical trial endpoints will be discussed. Innovative study designs for rare diseases and partnering with stakeholders will be highlighted. Junior investigators will be invited to participate in special sessions regarding career development and funding opportunities. Patients and families will have the opportunity to participate in the conference sessions, as well as “Meet the Expert” sessions.

Target Audience

The target audience for this conference is clinical and translational investigators (MD/DO, PhD) in rare genetic causes of bronchiectasis, including primary ciliary dyskinesia (PCD), primary immunodeficiencies (PID), alpha-1 anti-trypsin disease (AATD) and cystic fibrosis (CF), to discuss preparing for collaborative multicenter clinical trials. We will also have a Career Enhancement Curriculum for trainees/junior faculty and a Family Curriculum as part of the conference.

International Participants

International participants are welcome! Please note the mobile number feature is not enabled for international guests. International guests, please complete the registration process by visiting the "Register" tab.

Learning Objectives

  1. Discuss and summarize critical knowledge gaps and key steps for clinical trial readiness in these rare disease populations
  2. Create collaborative working groups to propose and develop future clinical trials 
  3. Excite and promote the success of junior investigators in rare disease clinical and translational research
  4. Facilitate patient and family involvement in both research sessions and family focused “Meet the Expert” sessions

Additional Information

Course Contact: 
Matthew Stern, MS | CME Manager | Children's Hospital Colorado | matthew.stern@childrenscolorado.org
Course summary
Available credit: 
  • 8.75 AMA PRA Category 1 Credit™
  • 8.75 Attendance
Course opens: 
Course expires: 
Event starts: 
09/23/2021 - 7:00am MDT
Event ends: 
09/24/2021 - 4:30pm MDT

This activity will be hosted from Denver, Colorado and all times below are in Mountain Standard Time.

Day 1 - September 23, 2021:

8:00-8:10am     Welcome and Introduction - BreAnna Kinghorn, Margaret Rosenfeld (co-chairs)

8:10-10:15am   Rare Genetic Causes of Bronchiectasis: Clinical Spectrum
Session Moderators: Adam Shapiro, MD, Steve Lommatzsch, MD

  • 8:10-8:30: Overview of Rare Genetic Causes of Bronchiectasis : Steve Lommatzsch, MD
    Live Q&A 8:30-8:35
  • 8:35-8:55: Cystic Fibrosis—the Model: Deepika Polineni, MD
    Live Q&A 8:55-9:00
  • 9:00-9:20: Primary Ciliary Dyskinesia: Stephanie Davis, MD
    Live Q&A 9:20-9:25
  • 9:25-9:45: Primary Immune Deficiencies: Megan Cooper, MD
    Live Q&A 9:45-9:50
  • 9:50-10:10: Alpha-1 Antitrypsin Deficiency: Robert Sandhaus, MD, PhD
    Live Q&A 10:10-10:15

10:15-10:30am   Break

10:30am-12:35pm Pathogenesis of Bronchiectasis in Rare Genetic Diseases: Informing Potential Therapeutic Targets
Session Moderator: Margaret Leigh, MD

  • 10:30-10:50: Vicious Cycle of Airway Disease Leading to Bronchiectasis: Margaret Leigh, MD
    Live Q&A 10:50-10:55
  • 10:55-11:15: Mucous Rheology & Mucus Clearance: Ric Boucher, MD
    Live Q&A 11:15-11:20
  • 11:20-11:40: Airway Inflammation and Oxidative Stress: Jim Chmiel, MD
    Live Q&A 11:40-11:45
  • 11:45-12:05: Microbiome and Respiratory Infection: John Lipuma, MD, PhD
    Live Q&A 12:05-12:10
  • 12:10-12:30: Dysregulated Immunity (Innate and Adaptive): Steve Holland, MD
    Live Q&A 12:30-12:35

12:35-1:15pm Break

1:15-3:00pm Interventional Trials in Rare Genetic Causes of Bronchiectasis: Lessons Learned from Previous Trials in CF and Non-CF Bronchiectasis
Session Moderator: BreAnna Kinghorn, MD & Stephanie Davis, MD

  • 1:15-1:35: Key Lessons from Interventional Trials in CF: Bonnie Ramsey, MD
    Live Q&A 1:35-1:40
  • 1:40-2:00: Lessons from Interventional Trials in Non-CF Bronchiectasis: Ken Olivier, MD MPH
    Live Q&A 2:00-2:05
  • 2:05-2:25: Lessons from Trials Targeting inflammation: Scott Sagel, MD, PhD
    Live Q&A 2:25-2:30
  • 2:30-2:50: Lessons from Trials of Non-tuberculous Mycobacteria Treatment: Jerry Nick, MD
    Live Q&A 2:50-2:55

Day 2 - September 24, 2021:

8:00-9:00am Endpoints for Clinical Trials in Rare Genetic Causes of Bronchiectasis
Session Moderators: BreAnna Kinghorn, MD MS, Scott Sagel, MD PhD

  • 8:00-8:15: Lung function: Spirometry & Lung Clearance Index: Jessica Pittman, MD, MPH
  • 8:15-8:30: Pulmonary Exacerbations: Margaret Rosenfeld, MD
  • 8:30-8:45: Patient Reported Outcomes:  Sharon Dell, MD
  • 8:45-9:00: Live Q&A Panel Discussion with Drs Pittman, Rosenfeld, and Dell

9:00-10:00am Precision Medicine Clinical Trials
Session Moderator: Tom Ferkol, MD

  • 9:00-9:20: Molecular Therapies for PCD:  Heymut Omran, MD
    Live Q&A 9:20-9:25
  • 9:25-9:45: Gene Therapies for PIDs: David Rawlings, MD, PhD
    Live Q&A 9:45-9:50

9:50-10:05 Break

10:05-11:15 Developing Partnerships and Innovative Study Designs for Trials in Rare Diseases
Session Moderator: Margaret Rosenfeld, MD

  • 10:05-10:25: Partnering with Stakeholders: Foundations & Family: Michele Manion, Christopher Scalchunes, Robert Sandhaus, MD, PhD
    Live Q&A 10:25-10:30
  • 10:30-10:50: The Role of Registries: Michael O’Conner, MD
    ​​​Live Q&A 10:50-10:55
  • 10:55-11:15: Designs for Small Sample Sizes: Nicole Hamblett, PhD
    Live Q&A 11:15-11:20
  • 11:20-11:40: Moving translational discoveries into clinical trials: Airway Mucins: Burton Dickey
    Live Q&A 11:40-11:45

11:45-12:15pm Future Research Collaborations
Session Moderators: Stephanie Davis, MD, Margaret Rosenfeld, MD

  • 11:45-12:05: Panel Discussion: Future Research Collaborations: Steering Committee members, Robert Sandhaus, MD, PhD
  • 12:05-12:15: Wrap-Up & Closing Remarks: Tom Ferkol, MD, Stephanie Davis, MD, BreAnna Kinghorn, MD, MS, Margaret Rosenfeld, MD, MPH

3:00-4:00 Meet the Experts Session

  • Alpha-1 Antitrypsin Foundation
  • PCD Foundation
  • Primary Immune Deficiency
Children's Hospital Colorado
Aurora, CO 80045
United States

This conference will be hosted virtually for all attendees. Detailed information will be provided within two weeks of the conference. This registration website will walk you through your expectations based on your attendee type.

Principal Investigators:

  • BreAnna Kinghorn, University of Washington, Seattle, Washington 
  • Margaret Rosenfeld MD MPH, University of Washington, Seattle, Washington 
  • Scott Sagel, MD PhD, University of Colorado, Denver, Colorado 
  • Adam Shapiro, MD, McGill University, Montreal, Quebec.

Steering Committee:

  • Stephanie Davis MD, University of North Carolina, Chapel Hill, North Carolina 
  • Margaret Leigh, University of North Carolina, Chapel Hill, North Carolina
  • Tom Ferkol MD, Washington University, St. Louis, Missouri
  • Steve Lommatzsch MD, National Jewish Health, Denver Colorado

Presenting Faculty:

  • Ric Boucher, MD
  • Jim Chmiel, MD
  •  Megan Cooper, MD
  •  Stephanie Davis, MD
  • Sharon Dell, MD
  • Christopher Evans, Ph.D.
  • Tom Ferkol, MD
  • Nicole Hamblett, PhD
  • Steve Holland, MD
  • Margaret Leigh, MD
  • John Lipuma, MD, PhD
  • Michele Manion
  • Jerry Nick, MD
  • Michael O’Conner, MD
  • Jessica Pittman, MD, MPH
  • Deepika Polineni, MD 
  • Bonnie Ramsey, MD
  • Robert Sandhaus, MD, PhD
  • Kathryn Stephens

Faculty for the Meet The Experts Session:

Primary Immune Deficiency:
John M. Routes, MD
Chief, Section of Allergy and Clinical Immunology
Professor of Pediatrics, Medicine, Microbiology and Immunology
Department of Pediatrics
Children's Wisconsin
Medical College of Wisconsin

Dr. Routes is a clinical immunologist whose practice is limited to the evaluation and treatment of children and adults with primary immunodeficiencies.  Dr. Routes was the principal investigator for the first statewide program (Wisconsin) to screen all newborns for severe combined immunodeficiency (SCID). He has a longstanding interest in lung disease in primary immunodeficiency and was first to describe granulomatous and lymphocytic interstitial lung disease (GLILD) as a unique disease that occurs in CVID and CVID-like disorders and is distinct from sarcoidosis. More recently, Dr. Routes and collaborators published the results on the use of immunosuppressive regimen that improves the pulmonary abnormalities due to GLILD on a large cohort of patients.  Dr Routes served as a member (2009-2017) then the Chair (2017-2019) of the NIH study section "Investigations in Primary Immunodeficiencies". He is the past President of the Clinical Immunology Society (2013-2014) and in 2016 received the CIS Distinguished Service Award.

Alpha-1 Foundation:
Robert A. Sandhaus, MD, PhD, FCCP
Professor of Medicine
Division of Pulmonary, Critical Care, and Sleep Medicine
Director, Alpha-1 Antitrypsin Deficiency Program
National Jewish Health

Robert “Sandy” Sandhaus graduated from Haverford College in Pennsylvania with a degree in molecular biology.  He received a PhD in cell biology from Stony Brook University and an MD from the Renaissance School of Medicine.  He completed his residency in internal medicine at the Beth Israel Hospital in Boston and a pulmonary fellowship at the University of California San Francisco (UCSF).
He joined the UCSF medical faculty and subsequently the medical faculty at the University of Colorado School of Medicine where he founded the Alpha-1 Antitrypsin Deficiency Program at National Jewish Health in Denver 40 years ago.  He remains its director. Currently, he serves on the medical advisory committees of the COPD Foundation and the Osteogenesis Imperfecta Foundation.  He has been board certified in internal medicine, pulmonary disease, and critical care medicine and lives in Bow Mar, Colorado.

PCD Foundation:
Thomas G. Saba, MD 
Assistant Professor
Pediatric Pulmonology Fellowship Program Director
Primary Ciliary Dyskinesia Center Director
C.S. Mott Children's Hospital
University of Michigan

Thomas Saba graduated from Medical school at McGill University.  He completed his pediatric residency, serving as Chief Pediatric Resident at Montreal Children's Hospital. Following residency, he completed a pediatric pulmonology fellowship at the University of Michigan. Currently, Dr. Saba is a clinician educator and the fellowship program director. His clinical research interests include PCD and heterotaxy syndrome and is a member of the ATS training committee.

Steve Brody, MD
Professor of Medicine
Dorothy R and Hubert C. Moog Professor of Pulmonary Medicine
Washington University School of Medicine in Saint Louis

Steven L Brody, MD is the Moog Professor of Pulmonary Medicine at Washington University School of Medicine in Saint Louis. He received his MD at the University of Michigan and residency training in internal medicine at the University of Cincinnati. He trained in emergency medicine and critical care at Emory University followed by a fellowship in pulmonary medicine and post-doctoral research at the National Institutes of Health. His laboratory uses cell and molecular biology tools to investigate airway epithelial function, ciliated cell commitment and ciliogenesis. His group has specific interest in steps required for cilia assembly and the impact of mutations found in primary ciliary dyskinesia.

Medical:  Children’s Hospital Colorado is accredited by the Accreditation Council for Continuing Medical Education to provide continuing medical education for physicians. 
Children’s Hospital Colorado designates this Other activity (Internet Live Activity) for a maximum of XX AMA PRA Category 1 Credit(s)™. Physicians should only claim credit commensurate with the extent of their participation in the activity.

General Attendance:  A general certificate of attendance will be available for all other care providers.

Available Credit

  • 8.75 AMA PRA Category 1 Credit™
  • 8.75 Attendance


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Virtual participation in this conference will require a computer/tablet, with speakers and a microphone. For any questions or concerns, please contact us.