NIH Awards Multicenter Rare Disease Grant to Alpha-1 Antitrypsin Disease Cohort: Longitudinal Biomarker Study of Disease

August 18, 2020

The National Institutes of Health (NIH), National Heart, Lung, and Blood Institute (NHLBI) has announced the award of a large rare disease grant which will focus on Alpha-1 Antitrypsin Deficiency.  The grant entitled Alpha-1 Antitrypsin Disease Cohort: Longitudinal Biomarker Study of Disease was awarded as part of a competitive grant process conducted in response to an NHLBI request for applications (RFA) to fund research centers that will establish longitudinal cohorts in rare heart, lung, blood, or sleep disorders. The grant was awarded to Jeanine D’Armiento, MD, PhD at Columbia University in New York City as the Principal Investigator along with Co-Principal Investigator, Charlie Strange, MD at the Medical University of South Carolina. The University of Alabama at Birmingham, under the guidance of Dr. J. Michael Wells and Dr. Surya Bhatt, will serve as the imaging core for this study. Co-Investigators around the country include Dr. Monica Goldklang at Columbia University, Dr. Andrew Wilson at Boston University, Dr. M. Bradley Drummond at the University of North Carolina at Chapel Hill, and Dr. Cheryl Pirozzi at the University of Utah. Dr. Mark Brantly at the University of Florida will serve as a consultant on the proposal. Dr. Gerry McElvaney at the Royal College of Surgeons in Ireland will serve as an international Co-Investigator.

The NIH required that in order to apply for the grant, a collaboration with a patient organization was essential. Therefore, the Alpha-1 Foundation has partnered in the successful grant application and will be directly working with the investigators throughout the duration of this six-year study. Although the Foundation does not receive direct funding from this NHLBI grant, the benefit to the Foundation and the patient community will be tremendous. The Alpha-1 Foundation Research Registry will be significantly enhanced through the efforts of the Principal Investigators during the first phase of the study.  In addition, the interaction with Alpha-1 community aligns directly with Food and Drug Administration’s (FDA) Patient Focused Drug Development Program. This grant aids in identification of unaddressed research questions in Alpha-1 and clinically relevant outcomes of importance to patients and also facilitates engagement and recruitment of patients and families.

“This grant was only possible due to the asset of the Registry built by the Foundation. The researchers and the Foundation together are in an ideal situation to ensure the success of this grant. We have formed an outstanding network of dedicated researchers committed to partnering with the Foundation, and have established a strong medical and scientific research core. We look forward to advancing the science of Alpha-1 and answering important research questions for both the scientific and patient community,” explained Dr. Jeanine D’Armiento.

This grant is consistent with the Foundation’s history of fostering collaborations with investigators throughout the United States and around the world, working closely with the National Institute of Health (NIH), the Food and Drug Administration (FDA), the pharmaceutical industry and most importantly, people affected by Alpha-1.

This highly competitive grant was designed to fund research that will establish longitudinal cohorts in rare heart, lung, blood and sleep disorders area, investigate unanswered research questions using epidemiologic study designs and methods that are appropriate for rare disease groups, provide an evidence base for future interventional studies, including clinical trials, develop better diagnostics than those that are currently available, answer early translational questions and to broaden implementation of guidelines for managing alpha-1 antitrypsin deficiency. The registry comprises of a group of patients who will be informed and offered participation in observational studies, interventional studies, clinical trials, and the development of diagnostic techniques to answer translational questions.

“John W. Walsh used to ask how we could get a large NIH grant for Alpha-1 and I would tell him the only way to do that was in collaboration with the research community and the academic centers where they work. We are delighted that on the 25th anniversary of the Alpha-1 Foundation, Dr. D’Armiento and the Alpha-1 Clinical Consortium team have made this collaboration come to fruition,” said Miriam O’Day, President and CEO of the Alpha- Foundation.

At this time during the worldwide pandemic and public health emergency, this grant offers tremendous hope to Alphas as it brings a partnership with the NIH, clinicians, scientists and patients to make progress in Alpha-1 research.

About the Alpha-1 Foundation

Alpha-1 is a genetic (inherited) condition that is passed from parents to their children through their genes. Alpha-1 may result in serious lung disease in adults and/or liver disease at any age. The Alpha-1 Foundation, founded in 1995, is committed to finding a cure for Alpha-1 Antitrypsin Deficiency (Alpha-1) and to improving the lives of people affected by Alpha-1 worldwide. The Foundation has invested over $76 million to support Alpha-1 research and programs at 116 institutions in North America, Europe, the Middle East, and Australia.

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Contact: Jeanne Kushner

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