Critical Path for Alpha-1 Antitrypsin Deficiency

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The Problem

AATD silently impacts an estimated 1 in 1,500 to 3,500 individuals of European descent worldwide. In fact, up to 100,000 people in the U.S. alone are affected by this condition. It often manifests as chronic obstructive pulmonary disease at approximately 40 years of age. Infants aren’t spared either; nearly 10% of infants with AATD face abnormal liver functions, posing a threat of future transplants. The intricate genetic facets of AATD cloud our understanding of patient experiences and the nuances of clinical trials. Given these statistics and complexities, there’s an undeniable urgency to recalibrate our approach.

The Solution

CPA-1 generates solutions for unmet drug development needs in AATD, with a specific focus on addressing its hepatic and pulmonary manifestations. This will be achieved through the collaborative creation of an aggregated database, integrating data from clinical trials, natural history studies, registries, and other relevant sources to inform and support these solutions.

The consortium’s mission is to forge a resilient public-private partnership comprised of industry partners, academic researchers, regulators, and patient groups. Our goal is to work collaboratively to accelerate medical advancements for AATD, ensuring better lives for people affected by AATD.

CPA-1 unites key stakeholders in the AATD sphere. Within this pre-competitive space, CPA-1 fosters alignment among AATD stakeholders, identifying challenges, prioritizing solutions, and forging innovative tools. This new alignment is the catalyst for pioneering new drug development tools tailored to meet the pressing needs of those living with AATD.

The Impact

CPA-1 embarks on a journey to cultivate a comprehensive knowledge base for AATD, with a focus on achieving the following milestones:

  • Formulating a consortium of diverse AATD experts from academia, industry, and patient groups to work with regulators to advance drug development solutions to progress novel therapies.
  • Building an AATD-specific platform to harness data from clinical trials, longitudinal observational research, and registries to be aggregated and support regulatory submission of novel drug development tools.
  • Identifying exploratory biomarkers for diagnosis, disease progression, prognosis, and/or therapy response.
  • Identifying knowledge gaps impeding AATD product development.
  • Exploring the drug development needs of the emerging field of regenerative medicine, such as cell and gene therapies, that offer hope towards a cure.

In the realm of AATD, unmet needs and opportunities abound that the CPA-1 consortium will evaluate and prepare regulatory-ready solutions with the hope of:

  • Biomarker Endorsement: With limited markers and uncertain clinical evidence regarding the validity of existing endpoints, there exists a significant opportunity to evaluate and support both existing and new biomarkers as reliable measures of disease prognosis, diagnosis, progression, and/or therapy response.
  • Expansion of treatment options: Current treatment options come with significant burden and limitations, whether it be weekly alpha-1 proteinase inhibitor infusions or organ transplant. The patient community is clear in their wish for more novel treatment modalities and diversifying therapeutic approaches that address pulmonary, hepatic, and other ailments associated with AATD.

The journey towards conquering Alpha-1 Antitrypsin Deficiency has been fraught with obstacles, but through CPA-1’s collaborative spirit and unwavering dedication, we aspire to remove obstacles and enhance drug development to improve lives — together.


Gina Smith, MPH, RN
Scientific Director, Pediatrics, CPA-1

Colleen Jacobsen
Project Manager, Pediatrics, CPA-1

Olivia Giola
Project Coordinator I, Pediatrics, CPA-1,

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