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Sanofi Genzyme, PerkinElmer Launch Free Dx Program for Patients With Lysosomal Storage Disorders

NEW YORK (GenomeWeb) – Sanofi's Genzyme subsidiary and PerkinElmer Genomics, the molecular genetics laboratory of PerkinElmer, have launched a program called the Lantern Project to provide no-cost diagnostic testing to patients in the US who suffer from certain lysosomal storage disorders (LSDs).

Through the project physicians will be able to arrange for screening of certain suspected LSDs as well as confirmatory DNA testing and phlebotomy services for their patients. Physicians will be able to refer patients who may be suffering from Gaucher disease, Fabry disease, Pompe disease, mucopolysaccharidosis type I (MPS I), or acid sphingomyelinase deficiency (ASMD), also known as Niemann-Pick disease types A and B. Additionally, patients have the option of undergoing testing with an enzyme panel for seven mucopolysaccharidoses and a 105-gene panel for limb-girdle muscular dystrophies (LGMD) and other myopathies, the partners said.

LSDs comprise a group of more than 40 genetic diseases that are frequently characterized by a range of symptoms. Disease progression and symptom severity can vary widely. One of the benefits of the Lantern Project is the LGMD panel, which is able to sequence 105 genes known to be associated with LGMDs and other myopathies, a heterogeneous group of muscular weakness disorders that vary in severity and age of onset, Sanofi Genzyme noted. The panel uses NGS technology to sequence multiple genes simultaneously, testing for multiple LGMD disorders at once in addition to other diseases that may cause similar symptoms, including Pompe disease and spinal muscular atrophy.

"The Lantern Project is another reflection of Sanofi Genzyme's continuing commitment to the rare disease communities we serve," Sarah Gonzalez, head of medical diagnostics at Sanofi Genzyme, said in a statement. "While we have seen many significant advances in research over the past 30-plus years, there are still tremendous challenges in helping patients get a diagnosis for many rare diseases."

In July, PerkinElmer said that it had 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. The 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. 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.