Alpha-1 Foundation

The Alpha-1 Foundation is a not-for-profit Florida corporation founded in 1995 by John Walsh, Sandy Lindsey and Susan Stanley, three people diagnosed with Alpha-1 Antitrypsin Deficiency (Alpha-1). A majority of the Board of Directors is either diagnosed with Alpha-1 or has a family member diagnosed with Alpha-1. The Foundation has developed a solid infrastructure to promote research and the development of new therapies for improving the quality of life for those diagnosed with Alpha-1. It has fostered collaborations with investigators throughout the United States and Europe, working closely with the National Institutes of Health (NIH), the Food and Drug Administration (FDA), people affected by Alpha-1 and the pharmaceutical industry to expedite the development of improved therapies. 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 is committed to finding a cure for Alpha-1 and to improving the lives of people affected by Alpha-1 worldwide. The Foundation has invested over $90 million to support Alpha-1 research and programs at 123 institutions in North America, Europe, the Middle East, and Australia.

Click the following to learn more about the Alpha-1 Foundation.

Alpha-1 Research Registry

The Alpha-1 Research Registry is a confidential database made up of individuals diagnosed with Alpha-1 and individuals identified as Alpha-1 carriers. The Registry was established to facilitate research initiatives and promote the development of improved treatments and a cure for Alpha-1. Located at the Alpha-1 Foundation, Miami, FL, the Registry employs procedures that ensure the most stringent confidentiality of participants. The Registry is under the direction of Jeanine D’Armiento, Chair of the Alpha-1 Foundation’s Board of Directors and is guided by an Advisory Committee comprised of leaders in the medical, ethical, scientific, and Alpha communities. Individuals enrolled in the Registry have the ongoing opportunity to participate directly in clinical trials of new therapeutic approaches in addition to other research opportunities. To participate in the A1BC you must enroll in the Alpha-1 Research Registry. To join the Alpha-1 Research Registry you must:

Step 1: Complete the Registration Form
Step 2: Read and Sign Informed Consent Form
Step 3: Complete Questionnaire
Step 4: Provide Medical Tests and Labs (optional)

Click the following link to learn more about the Alpha-1 Research Registry and to join!

Clinical Resource Centers

Clinical Resource Centers (CRCs) are located throughout North America and specialize in patient care, education and research for those with Alpha-1. Some centers treat lung disease and others liver disease. Many have other resources for Alphas, such as support groups, pulmonary rehabilitation and organ transplant programs. There are CRCs in most states but not all. If your state has no CRC, you may be able to find one in a state nearby. And if you happen to know a knowledgeable Alpha doctor in your state who is not in our listings, we’d welcome an application from the doctor.

Click the following link to identify your closest CRC

History of the Registry

NIH 1991-1996

National Institute of Health 1991-1996

The National Heart, Lung and Blood Institute (NHLBI) at the National Institute of Health (NIH) sponsored and managed a multi-center Alpha-1 registry to explore the natural history of Alpha-1 Antitrypsin Deficiency and the relative efficacy of augmentation therapy in patients with a severe deficiency of Alpha-1Antitrypsin. The NHLBI Alpha-1 Registry results showed improved survival and a subgroup with slower rate of decline in lung function for those on augmentation therapy compared to those not receiving augmentation.

UM 1997-2000

University of Miami 1997-2000

In 1997, NHLBI announced that it would discontinue the Alpha-1 Registry. As a result, the Alpha-1 Foundation was founded and created by Alpha-1 patients, John W. Walsh, Sandy Lindsey, and Susan Stanley, to provide resources to facilitate the development of new treatments and therapies for improving the quality of life for those diagnosed with Alpha-1. One of the first actions by the Alpha-1 Foundation was to take ownership of the NHLBI Alpha-1 Registry and move it to the University of Miami. The Foundation’s founders did not want to lose the valuable resource that had been created with the Alpha-1 Registry. The Registry was moved to the University of Miami and managed by Lora Fleming, MD, PhD to maintain resources and continue availability for alpha-1 researchers. Subsequently, the Alpha-1 Foundation created the Clinical Resource Center (CRC) program, a network of Alpha-1 clinical experts who specialize in patient care, education, and research for those with Alpha-1 and invited the original NHLBI sites to be affiliated.

MUSC 2000-2019

Medical University of South Carolina 2000-2019

In 2000, The Alpha-1 Registry moved to the Medical University of South Carolina (MUSC) where it was managed by Charlie Strange, MD as a confidential database of diagnosed Alphas and carriers willing to participate in research studies and clinical trials of potential new therapies.

The Registry was a patient contact registry with adjudicated lung function and genotypic data collected. It was a designed with a platform for CRCs to link their patient data to biospecimens to create another registry, the CRC Registry. The CRC Registry was a multi-centered registry that collected both patient reported and clinical data that was sponsored by the Alpha-1 Foundation.

The patient contact Registry at MUSC enrolled over 6,600 Alphas and over 250 study invitations were sent to 93 independent research studies. The Alpha-1 Registry was managed and supported by the Alpha-1 Foundation until 2019.

Foundation 2019-Present

Alpha-1 Foundation 2019-Present

The National Institute of Health recommended that nonprofit organizations manage their own registries for two reasons: 1) they will have more control of their data; 2) it is more cost effective to manage registries internally. The Alpha-1 Research Registry was established as a new registry based on the former CRC Registry.

The Alpha-1 Foundation’s Registry is a robust repository of Alpha-1 clinical, and patient reported data. The Registry operates under the direction of Jeanine D’Armiento, MD, Chair of the Alpha-1 Foundation’s Board of Directors and is guided by an Advisory Committee comprised of leaders in the medical, ethical, scientific, and Alpha-1 patient communities.

The Alpha-1 Research Registry was created using REDCap (Research Electronic Data Capture) software that is used for clinical data capture. The database is managed by the Alpha-1 Foundation and hosted on a HIPAA compliant platform. There is strict adherence to established confidentiality procedures that are intended to protect the identity of those who participate. The database is kept under tight security and it requires passwords and contains encryption protections. Only Registry staff at the Alpha-1 Foundation have access to a member’s personal information.

The Alpha-1 Foundation is working CRCs to transfer the data collected in the CRC Registry. The data will be included in the Foundation’s Registry. CRC Registry participants consent or authorize the transfer of their data to the Foundation. Only data authorized by participants are transferred to the Foundation.

One of the largest obstacles in Alpha-1 research is finding enough volunteers to participate in studies. By establishing a database of individuals with Alpha-1, the Alpha-1 Research Registry provides a resource for researchers and clinical trials for the development of new therapies, treatments, and a cure.

NIH Grant 2020-2026

National Institutes of Health Grant 2020-2026

In May 2020, the National Institutes of Health awarded a grant to identify and characterize biomarkers associated with emphysema progression in Alpha-1 Antitrypsin Deficiency. The grant was awarded Jeanine D’Armiento, MD, PhD at Columbia University in New York City and Charlie Strange, MD at the Medical University of South Carolina as Co-Principal Investigators.

The multi-center grant will enhance and strengthen the Alpha-1 Foundation’s Alpha-1 Research Registry, assist in identifying unaddressed research questions in Alpha-1 and provide evidenced based data for future clinical trials. The six-year grant will concentrate on two phases; Phase 1 will fund research centers that will establish longitudinal cohorts of PiZZ patients (enrollment and data collection for the Foundation’s Registry). Phase 2 will find and study radiologic, genetic, and blood biomarkers that can be used for future studies.

The grant will enhance the Alpha-1 Foundation’s Registry by facilitating the coordination of the transfer of MUSC Registry data to the Foundation. Dr. Strange and the MUSC team are communicating with MUSC Registry participants seeking their authorization to transfer their records to the Foundation. Those MUSC Registry participants are invited to join the Foundation’s Registry. This will assist in the growth of the Foundation’s Registry.

To participate in the A1BC you must Enroll in the Alpha-1 Foundation Research Registry!

For more information about the Research Registry visit: www.a1f.org/alpha1registry.

You may also contact us by email at alpha1registry@alpha1.org or phone 1-877-228-7321 ext.252

Enroll in the Alpha-1 Foundation Research Registry today!

ENROLL

Alpha-1 Biomarkers Consortium (A1BC)