Research Investments | Alpha-1 Foundation

Research

Our Commitment

Since 1995, the Alpha-1 Foundation has funded over $65 million to find a cure for Alpha-1.

Chart Investment

Chart Investment

Basic Researchplus

Molecular biology of Alpha-1 Antitrypsin (AAT) expression
- Mechanisms of AAT synthesis, folding and secretion
- Molecular pathology of Z AAT gene expression
Animal Model Development
- Development of an AAT deficient animal model for lung
- Development of an AAT deficient animal model for liver
Lung-Focused Research
- Determinants of lung growth, turnover, maintenance and regeneration
- Mechanisms of tissue destruction, response to injury, and inflammation
Liver-Focused Research
- Determinants of liver growth, maintenance, turnover and regeneration
- Mechanisms of hepatocellular toxicity and liver damage
Technology Development
- Hepatocyte transplantation
- Gene therapy: enhancement, replacement, extinction and repair
- Epigenomics of Alpha-1 gene regulation
- Small molecule anti-proteases
- Small molecule, high through-put library screening
Stem Cell Research and Regenerative Medicine
- In vitro disease modeling, drug screening, and personalized medicine
- Stem cell-based therapies
- Lung and liver tissue development and engineering artificial organs

Clinical Researchplus

Epidemiology and Natural History of AAT deficiency
- Impact of primary care and allied health care providers in detecting alpha-1
- Prenatal and newborn screening pilot studies
- Predicting course and outcomes
- Defining the risk of clinical manifestations in heterozygote carriers
  - Longitudinal study of PI*MZ individuals
- Natural history following lung transplantation
- Natural history of lung disease following liver transplantation
New diagnostic technologies
Modifier genes or epigenomic influences affecting Lung and Liver in AAT deficient individuals
Transcriptomic and proteomic correlates of lung disease progression or stability
Role of inflammation in the pathogenesis of AAT lung disease
Establishment of effective clinical outcomes measures in AAT deficiency
- Biomarkers of early lung or liver disease or of disease exacerbations
- MRI, Quantitative CT scanning, fibroscan or other new modalities to assess lung or liver disease progression and response to therapy
Quality of life, patient reported outcomes, healthcare utilization, and symptom management
Environmental modifiers of lung and liver disease in AAT deficient individuals
- Microbiome as a potential disease modifier
- Gene-environment interactions
Clinical manifestations of AAT Deficiency other than in the lungs and liver

Novel Therapiesplus

Alpha-1 antitrypsin augmentation therapy
- Development of recombinant therapy approaches
- Development of aerosolized AAT therapy
- Determining the utility of AAT therapy in deficient lung transplant recipients
- Therapeutic dose analysis
Improving outcomes in lung and liver transplant recipients
- Use in post-transplant rejection
Treatment of pathophysiological manifestations (e.g., hyperinflation, cirrhosis, cholestasis) of AAT deficiency in lung and liver
Anti-inflammatory therapy
Small molecule antiprotease therapy
Cell-based therapies
Gene therapies
- Gene replacement therapy
- Enhancing or silencing AAT expression
Chemical chaperone therapy
Biomarkers as an index of therapy in lung and liver

Ethical, Legal, Social Issuesplus

Newborn testing/screening
Targeted detection
Social dimensions of living with A1ATD
Equitable access to, and distribution of, medical therapies
Impact of genomic information on Alpha-1 patients and their families
Impact of interventions on patient adherence and emotional well-being
Impact of Alpha-1 on families

Detectionplus

Increasing AATD testing in primary care
Screening and diagnosis of AATD through electronic health records
Alpha-1 Antitrypsin Deficiency Pilot and Feasibility Screening and Detection Study in a Targeted Population
Newborn Screening

Patient Research Registry

The Alpha-1 Foundation Research Registry is the most impactful engagement a patient can make to take an active role in finding a cure for Alpha-1.

Enroll Now

You may also view trials that are recruiting patients here.

Research Grant Opportunities

The Alpha-1 Foundation offers research opportunities for both in-cycle and out-of-cycle timelines.

Patients Needed
for Critical Study

A five-year, multi-center study of Alpha-1 liver disease in adults has enrolled its first participants and is actively recruiting Alphas to take part, says Alpha-1?

Enroll Now

The Alpha-1 Project (TAP)

The Alpha-1 Project (TAP) provides critical funding and advice to speed up the commercialization of therapies for Alpha-1 Antitrypsin Deficiency.

3300 Ponce de Leon Blvd. Coral Gables, FL 33134
Phone: (877) 228-7321 Email: info@alphaone.org

| | | |