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FDA Clears PerkinElmer Lysosomal Storage Disorder Diagnostic

NEW YORK (360Dx) – PerkinElmer said today that it has received 510(k) clearance from the US Food and Drug Administration for its NeoLSD MSMS kit, an in vitro diagnostic that screens for the six most common lysosomal storage disorders in newborn babies.

LSDs are a group of nearly 50 genetically acquired diseases with an estimated combined worldwide incidence of approximately 1 in 7,000 to 8,000 live births. The disorders result from the dysfunction, deficiency, or absence of a lysosomal enzyme, and affected individuals are unable to metabolize the disease-specific substrate of the deficient enzyme, which can lead to its progressive accumulation in the lysosomes of tissues, PerkinElmer said.

Early diagnosis of the disorders can be difficult because symptoms are absent at birth. Although enzyme replacement therapy or hematopoietic stem cell transplantation are available to treat certain LSDs, delays in available therapy can lead to irreversible tissue damage or possibly death.

The NeoLSD MSMS Kit quantitatively measures the activity of the enzymes acid-β-glucocerebrosidase, acid-sphingomyelinase, acid-α-glucosidase, β-galactocerebrosidase, α-galactosidase A, and α-L-iduronidase in dried blood spots from newborn babies, PerkinElmer said. Labs can then use mass spec instruments to analyze the kit for enzymatic activity in order to determine if the newborns are affected by Gaucher Disease, Niemann-Pick A/B Disease, Pompe Disease, Krabbe Disease, Fabry Disease, or MPS I Disease, respectively.

PerkinElmer also noted that with the NeoLSD MSMS kit, labs can use tandem mass spec technology, which reduces sample prep and analysis times, to run hundreds of tests per day. 

"PerkinElmer is the only company that offers a comprehensive IVD solution for analyzing these six LSDs from a single blood spot sample," Naren Bhat, general manager of PerkinElmer's mass spectrometry business, said in a statement. "We continue to innovate and develop screenings for an increasing number of LSDs to meet the evolving needs of our customers."

PerkinElmer also announced last week that it had received FDA 510(k) clearance for two assays developed by its Euroimmun subsidiary for the screening and diagnosis of anti-neutrophil cytoplasmic antibodies (ANCA)- associated vasculitis.