Saturday, February 4, 2017

Lysosomal storage disease screening

The US Food and Drug Administration (FDA) today approved the first screening tool for four rare lysosomal storage disorders (LSDs) in newborns, the agency announced.

The Seeker System begins with a heel prick and ends with an automated analysis of dried blood spots.

The four LSDs in question are mucopolysaccharidosis type I (MPS I), Pompe, Gaucher, and Fabry. Such LSDs are inherited metabolic disorders in which a cell's lysosomes do not break down and recycle unwanted cellular material because their enzymes are malfunctioning or not at a normal level. The toxic buildup of unrecycled cellular material can cause organ damage, neurological disability, or death unless the disorder is detected and treated early on. Depending on the particular LSD, the prevalence of MPS I, Pompe, Gaucher, and Fabry in newborns and children ranges from 1 in 1500 to 1 in 185,000.

The US Department of Health and Human Services recently added Pompe and MPS I to its list of recommended newborn screening programs. It's likely that more state health departments will begin to require screenings for these LSDs, according to Alberto Gutierrez, PhD, director of the Office of In Vitro Diagnostics and Radiological Health in the FDA's Center for Devices and Radiological Health. "That's why the availability of LSD screening devices that have been assessed for accuracy and reliability by the FDA are so important," Dr Gutierrez said in a news release.

The Seeker System determines whether dried blood samples collected from a prick of a newborn's heel 24 hours to 48 hours after birth show either normal enzyme activity or reduced activity associated with any of the four LSDs. If reduced enzyme activity is spotted, clinicians must confirm the results with other methods, such as biopsies, genetic tests, and other laboratory tests.

The FDA determined that the Seeker System was effective based on a study of 154,412 newborns in Missouri who were screened with the new technology. It accurately identified at least one of the four LSDs in 73 of the screened newborns.

The screening tool comes with the risk of false negative findings. However, none emerged in the study or in a 15-month surveillance program that followed, the FDA said.

More information on today's announcement is available on the FDA website.


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