Non-invasive Test to Diagnose Genetic Form of COPD Now Available in U.S.

Non-invasive Test to Diagnose Genetic Form of COPD Now Available in U.S.

AlphaID, a cheek swab test that can help identify patients with chronic obstructive pulmonary disease (COPD) who have the disease due to alpha-1 antitrypsin deficiency (AATD), is now available for use by U.S. physicians and healthcare providers.

AATD, which also is known as hereditary pulmonary emphysema, is a genetic condition that has been associated with an increased risk for lung and liver diseases. Many people with this inherited condition remain asymptomatic throughout their lives, but others can develop serious, life-threatening conditions such as COPD.

AATD is characterized by reduced levels in the blood and lungs of the alpha-1 antitrypsin (AAT) protein, which fails to fold correctly due to genetic mutations. The misfolded protein accumulates inside liver cells (the major synthesis site for AAT protein) or it can form complex, pro-inflammatory protein clumps that become trapped inside the lungs.

Although this genetic condition is quite rare in the general population — affecting one person in 2,500 to 5,000 people in the U.S. and Europe — AAT abnormal genetic variants are more common among those with COPD or chronic liver disease.

AATD has been recognized as a genetic predisposition factor to the development of early COPD. Still, approximately 90% of patients affected by severe AATD remain undiagnosed.

Grifols has developed AlphaID to overcome this issue, and help physicians identify COPD patients who may have the disease due to AATD.

“AlphaID is an innovative, convenient way for patients to be screened for Alpha-1 [AATD], which could mean earlier diagnosis and management of COPD,” Angela Davis, MD, said in a press release. David is global medical director, medical affairs and scientific intelligence at Grifols. “For more than 20 years, Grifols has been a leader in Alpha-1 screening and is dedicated to helping patients understand their condition and make informed treatment decisions.”

AlphaID is a simple, quick and completely free from ordering to results. It collects an oral sample that is used to evaluate the presence of the 14 most prevalently reported genetic mutations associated with AATD, as well as other potential variants linked to AAT protein deficiency.

The non-invasive test provides individualized, comprehensive results within a week from the time the sample is sent for screening.

Grifols will grant the opportunity to patients found to have an at-risk AAT variant to take an additional free test, known as AlphaID CONFIRM. This second test, which is a simple fingerstick blood collection kit, will re-check the initial genetic findings and assess the patient’s blood levels of AAT protein, providing a complete and accurate diagnosis.

“Alpha-1 antitrypsin is a protective protein that plays a critical role in safeguarding the lungs, making it important to screen COPD patients for a deficiency,” said Robert Sandhaus, MD, PhD, professor and director of Alpha-1 program at National Jewish Health.

“Severe Alpha-1 is estimated to affect over 100,000 people in the U.S. alone, although more than 90% of individuals remain undiagnosed, even though a simple screening test will quickly detect the condition,” Sandhaus said.

This announcement comes in November, which is national COPD awareness month.

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Patrícia holds her PhD in Medical Microbiology and Infectious Diseases from the Leiden University Medical Center in Leiden, The Netherlands. She has studied Applied Biology at Universidade do Minho and was a postdoctoral research fellow at Instituto de Medicina Molecular in Lisbon, Portugal. Her work has been focused on molecular genetic traits of infectious agents such as viruses and parasites.
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