A Visionary Approach to Early Diagnosis of Alzheimer’s Disease
You can scientifically define Alzheimer’s disease (AD) as a progressive, degenerative disorder that attacks the brain’s nerve cells resulting in loss of memory, thinking and language skills that interferes with daily life.  This definition does not encompass the anguish people experience when looking into the eyes of a loved one realizing that the progressive nature of AD is permanently and irreversibly destroying their ability to remember and function.
AD is characterized by the presence of two signature brain lesions: plaque deposits between nerve cells composed of fragments of the protein, amyloid beta (Aβ), and neurofibrillary tangles (NFT) composed of aggregated tau proteins in the interior of cells. 
An autopsy is the only positive identification for a definitive AD diagnosis. At present, medical providers have criteria for making only a “probable” diagnosis for AD, the sixth-leading cause of death in the U.S. affecting more than 5 million Americans. [3,4]
Researchers have been exploring the diagnostic potential of the eyes for various diseases using techniques like optical coherence tomography, fundoscopy, fluorescein angiography, and retinal imaging all of which have the capacity to use the retina for diagnosing various diseases. An Acton, Massachusetts-based biotech company, Cognoptix, a pioneer in the diagnosis of Alzheimer’s and other neurodegenerative diseases in the eye, has taken the ocular diagnostic concept to the next level. With technology licensed from Massachusetts General Hospital, Brigham & Women’s Hospital, and the University of California at San Diego, Cognoptix has developed an innovative, visionary, software-controlled, optical device called SAPPHIRE II. This accurate, early stage tool will be available to primary care physicians (PCPs) and is proposed for point-of-care patient testing at a per use charge, making its utilization for early pre-symptomatic diagnosis of AD affordable for large and small practices. Charges are projected to be 1/10 of the cost of the present diagnostic positron emission tomography (PET) scan. 
“Primary care physicians will be trained and certified in the use of SAPPHIRE II,” says Paul Hartung, the president and CEO of Cognoptix. PCPs will be able to perform this easy to interpret laser-based test. The beauty of this fluorescent ligand eye scan (FLES) is that the non-invasive testing can be repeated over time, ultimately giving primary care physicians and neurologists an accurate idea of the volume and rate of aggregated plaque accumulation via the supranucleus region of the lens in the progression of AD. Repeat testing during various stages of AD will allow data collection to monitor the progress of the disease. The FLES test will offer a way to provide earlier diagnosis and redefine diagnostic practices. Providing diagnoses in the early stages could increase the efficacy of current and emerging therapies, and management strategies could benefit by enabling more personalized patient care. 
SAPPHIRE II is a combination product, which consists of a sterile ophthalmic ointment and an eye-safe laser based reader. The ophthalmic ointment contains an amyloid-binding small molecule, which the reader is able to detect. The ointment is applied to the patient’s inner eyelid the night before the test and the active ingredient is absorbed into the eye. The measurement session takes about five minutes, with a single eye scan being performed in less than a second. The instrument generates a numerical output called the Fluorescence Uptake Value (FUV) immediately after a measurement is taken.
This visionary test could empower primary care physicians to make pre-symptomatic diagnoses allowing early treatment before brain tissue is destroyed.
Mr. Hartung relates, “We see the eye as the window to the brain and the rest of the body. Our non-invasive lens test supplies valuable data not readily available on the disease process of Alzheimer’s. The procedure is safe and can be done repeatedly, enabling early detection and monitoring of the disease.”
On February 14, 2014, Cognoptix announced that results of a clinical trial of SAPPHIRE II eye test had been published in the latest issue of Journal of Alzheimer’s & Other Dementias. Strong results of 85% sensitivity and 95% specificity in differentiating patients with probable AD were reported. 
“The easy-to-use SAPPHIRE eye test has demonstrated the clinical potential to remake the paradigm for the way in which Alzheimer’s disease is currently diagnosed and managed,” said Carl Sadowsky, MD, FAAN, Medical Director, Premiere Research Institute, West Palm Beach, Fla., and a principal investigator in the clinical trial of the SAPPHIRE eye test.
NOTE: The SAPPHIRE II system is approved for investigational use only in the United States.
- If the SAPPHIRE II test were available for point-of-care use would you incorporate that testing in your practice to aid in early diagnosing of AD? Yes No
- Alzheimer’s Foundation of America. About Alzheimer’s: Definition of Alzheimer’s. http://www.alzfdn.org/AboutAlzheimers/definition.html. Accessed February 11, 2014.
- National Institutes of Health. Accelerating medicines partnership: Alzheimer’s disease. http://www.nih.gov/science/amp/pdf/AMP-FactSheet-Alzheimers.pdf. Accessed February 13, 2014.
- Alzheimer’s Association. First steps to getting a diagnosis: finding out if it’s Alzheimer’s disease. http://www.tn.gov/comaging/documents/firststepsinfo.pdf. Accessed February 11, 2014.
- Thies W, Bleiler L; Alzheimer’s Association. 2013 Alzheimer’s disease facts and figures. Alzheimers Dement. 2013 Mar;9(2):208-245.
- Life Science Intelligence. Emerging Medical Technologies (EMT)® Innovator of the Month, November 2013. http://cognoptix.com/pdf/EMT_Innovator.pdf. Accessed February 13, 2014.
- OneMedPlace Team. Cognoptix: Simple eye-scan test a powerful tool for diagnosing Alzheimer’s disease. Jul 16, 2013. http://www.proactiveinvestors.com/columns/one-med-place/4441/16-jul-2013-cognoptix-simple-eye-scan-test-a-powerful-tool-for-diagnosing-alzheimers-disease-4441.html. Accessed February 12, 2014.
- Kerbage C, Sadowsky CH, Tariot PN, et al. Detection of amyloid β signature in the lens and its correlation in the brain to aid in the diagnosis of Alzheimer’s disease. Am J Alzheimers Dis Other Demen. 2014 Feb 14.