New Research on Alpha-1 Antitrypsin Deficiency

Alpha-1 Antitrypsin Deficiency (Alpha-1) is a genetic (inherited) condition, 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.

For each trait a person inherits, there are usually two genes; one gene comes from each parent. People with Alpha-1 have received two abnormal alpha-1 antitrypsin genes. One of these abnormal genes came from their mother and one from their father. In the United States, there are at least 100,000 people with Alpha-1, though many more are believed to still be undiagnosed.

Currently, there is no cure for Alpha-1. But scientists are learning more about the condition every day. Thanks to increased government support and high adoption rates for novel therapeutics, rare diseases — like Alpha-1— are sparking increased interest among researchers.

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Longitudinal Study of Cholestatic Liver Diseases

The National Institute of Diabetes and Digestive and Kidney Diseases (NIDDK) is embarking on a major study to help researchers learn more about disease progression in patients with four cholestatic liver diseases: alagille syndrome, alpha-1 antitrypsin deficiency, progressive familial intrahepatic cholestasis, and bile acid synthesis defects. Together, the four conditions comprise roughly 20-30% of all infant cases of cholestasis — any condition in which the flow of bile from the liver is slowed or blocked. Each can be at cause for major growth problems in childhood, other serious health problems, and liver complications serious enough to necessitate transplantation.

Called a “natural study,” this effort will follow patients diagnosed with any of these four diseases for ten years to explore natural history and progression. The NIDDK and researchers heading this study believe greater understanding of these rare liver diseases is key to developing a scientific basis for improving diagnosis and treatment. Learn more about the study at ClinicalTrials.gov Study NCT00571272.*

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Study Explores New Use of Drug

An Alpha-1 research study at Washington University in St. Louis School of Medicine, Children’s Hospital of Pittsburgh of UPMC and Presbyterian Hospital of UPMC, seeks to determine whether carbamazepine (CBZ), a drug which has been used safely for seizures and depression, can reduce the severity of liver disease that occurs in some people with Alpha-1.

In this disorder a genetic mutation results in the formation of an abnormal protein that accumulates in liver cells. This accumulation is toxic to the liver cells and therefore leads to gradual scarring (fibrosis) and ultimately failure of the liver to function properly (cirrhosis).

Researchers from Children’s Hospital of Pittsburgh of UPMC have shown that CBZ stimulates a process that removes abnormal proteins from cells in animal models of ATD. CBZ is currently FDA approved for use by children and adults in the treatment of seizures, depression and facial pain due to nerve inflammation. –

For more information on the trial, please refer to ClinicalTrials.gov and search for NCT01379469.*

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Alpha-1 Foundation Research Registry

To encourage more Alpha-1 research, the Alpha-1 Foundation and Medical University of South Carolina have established a confidential Alpha-1 Research Registry. Since Alpha-1 is relatively rare, this registry with a large number of Alphas makes it much easier and faster for scientists to carry out research studies.

The confidential database lists Alphas and Alpha-1 carriers across the country who are willing to participate in research. When individuals join the Registry, they may receive additional information on how they can help find better treatments and a cure for Alpha-1. This can include something as intensive as enlisting in a clinical trial to test new drugs or therapies – or something smaller like filling out a research questionnaire. Registrants are never required to participate in a study. As always, ALF encourages you to consult your doctor on any decisions concerning participation in studies or clinical trials.

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How Registries Work

The process begins when an investigator, researcher or drug company contacts the Registry and describes the type of research they would like to conduct. The Registry then looks through the patient database to see who qualifies for the study. If you are enrolled in the Registry and you qualify, the Registry will then send you an invitation letter, giving you the opportunity to participate.

The Alpha-1 Foundation Registry is conducted under the direction of Charlie Strange, MD, at the Medical University of South Carolina. For more information, please go to: https://www.alpha1.org/Healthcare-Providers/Research/Research-Registry.*

*ALF does not endorse or recommend any clinical trial. We make this information available for you to discuss with your physician.