Rare Lung Diseases Consortium
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Clinical Studies

5701: QUANTitative chest computed tomography UnMasking emphysema progression in alpha-1 antitrypsin deficiency (Quantum-1) Study

Status: recruiting

Investigator Name: Charlie Strange, MD

Study Summary

Please Note: The Rare Diseases Clinical Research Network will make every effort to enroll all the patients we can, but we cannot make any guarantees that we will be able to enroll everyone in a particular study who wants to participate.

Rationale for Study:

Alpha-1 Antitrypsin Deficiency, also known as Alpha-1, is a genetic disease which results in low to absent levels of a protein in the blood. This protein is called alpha1-antitrypsin (AAT). If you have Alpha-1 you may get a severe lung and/or liver disease and pass the deficient AAT gene on to your children.

The study will measure the progression of emphysema using serial chest CT scans.This study will pilot the development of a more accurate assessment of lung tissue loss and may improve the understanding of the lung destruction in AAT deficient individuals. Importantly, this study is being done only in Alphas with the PiZ phenotype (PiZZ, PiZ Null and Pi Null Null) who have normal breathing function. 

Objectives

The objectives of this study are:

  1. To determine if X-rays (specifically a high resolution chest computed tomography (CT) scan) can detect the progression of emphysema better than breathing tests (spirometry).   
  2. To determine if loss of lung density over time on CT is correlated with lung function decline, exacerbation frequency, or Quality of Life decline.
  3. To determine if participants with the greatest intensity of ongoing lung inflammation have the greatest loss of lung density over time.

Study Design

This will be a pilot, three year longitudinal study in 60 individuals with normal lung function. Those participating will be evaluated yearly for 3 consecutive years using quantitative chest CT densitometry (QCT), lung function testing, blood tests, and questionnaires to measure quality of life. The study will last three years, and there will be a total of 6 study visits over 3 years.

Study Duration/Timeline: Participant accrual will occur over a period of 12 months. The starting date for the study will be the summer of 2007 and the study will conclude in the summer of 2010. Publication dates would be expected in the spring of 2011.

Number of Participants: Sixty participants will be enrolled into the study.

Population: The study population will consist of outpatients with Alpha-1 18 years and older.

To be eligible to participate:

  • You are 18 years of age or older
  • You have signed and dated the informed consent
  • You have a diagnosis of alpha1-antitrypsin deficiency as determined by both:
    • Serum A1-PI levels <11µM  or 80 mg/dl and
    • A PiZZ or Znull phenotype confirmed by gene probe analysis. Previous serum levels and phenotype results are acceptable if documented from a CLIA certified laboratory.
  • An FEV1 >80% predicted on post-bronchodilator baseline spirometry

You are not eligible to participate if:

  • You are pregnant or intend to become pregnant during the 4 years of this study
  • You have a history of previous lung transplantation
  • You are a sibling of a participant enrolled in the study
  • You are unable to attend scheduled clinic visits
  • You are unable to give informed consent
  • Current or ex-smoker of cigarettes or marijuana that quit within the year prior to enrollment.
  • You have any current or planned use of oral tobacco products or nicotine replacement products
  • You have evidence of significant chronic or acute inflammation outside the lung such as connective diseases, panniculitis or acute infection.
  • You are unwilling or unable to alter bronchodilator medications for 24 hours prior to scheduled QCT scans.
  • You have musculoskeletal disease that limits exercise by walking.
  • You are required to continue taking any of the following anticholinergic drugs within 48 hours of scheduled lung function testing: dicyclomine (Bentyl), propantheline (Pro-Banthine), mepenzolate (Cantil), methscopolamine (Pamine), and scopolamine (Transderm-Scop).
  • You have known allergy or intolerance to tiotropium or albuterol.

How to Participate:

In order to participate in a study, you must personally contact the study coordinator of any of the participating institutions by phone or by e-mail. Please use the information below to inquire about participation.

  • Medical University of South Carolina (MUSC)
    Amie Gitter
    843-792-6569
    gitterac@musc.edu

  • Cincinnati Children's Hospital Medical Center (CCHMC)
    Brenna Carey
    513-636-8916
    Brenna.Carey@cchmc.org

  • National Jewish Medical and Research Center, Denver, CO
    Janet Talbert, MS
    Genetic Counselor and Clinical Research Coordinator
    1-800-423-8891 ext. 1022
    talbertj@njc.org

  • Cleveland Clinic Foundation, Cleveland, OH
    Diane Faile
    216-444-9975
    failed@ccf.org

  • University of Florida Medical Center (RLDC), Gainesville, FL
    Angeline Leong
    352-273-7589
    angeline.leong@alphaone.ufl.edu

  • Oregon Health & Science University, Portland, OR
    Karlene Kennie
    503-494-1305
    kenniek@ohsu.edu

  • Harvard/Brigham and Women's Hospital, Boston, MA
    Eric Schwinder
    617-525-2290
    eschwinder@partners.org

Join the Contact Registry for: Alpha-1 Antitrypsin Deficiency (Alpha-1)

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