Sanofi Genzyme, PerkinElmer to offer no-cost DNA testing for lysosomal storage disorders

Illustration of three DNA helices
Some underlying lysosomal storage disorders can take over 10 years and as many different physicians before a proper diagnosis, with symptoms presenting as common diseases. (Darwin Laganzon)

Sanofi Genzyme and PerkinElmer Genomics have launched a free genetic testing program that aims to spot certain undiagnosed lysosomal storage disorders, while raising awareness of the group of rare diseases whose symptoms may initially be ascribed to more common ailments.

The Lantern Project will provide no-cost comprehensive diagnostic services and DNA-based blood testing in the U.S., targeting the tens of thousands of people that the companies estimate go undiagnosed for years at a time—with the goal of getting patients on-treatment faster and creating a larger market for rare disease drugs.

The project will begin with screening for Gaucher, Fabry and Pompe disease, as well as mucopolysaccharidosis type I and acid sphingomyelinase deficiency, which also known as Niemann-Pick disease.


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It will also offer an enzyme panel for seven mucopolysaccharidoses, and a 105-gene next-generation sequencing panel for limb-girdle muscular dystrophies and other myopathies, in addition to diseases that may cause similar symptoms such as Pompe disease and spinal muscular atrophy.

"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,” said Sarah Gonzalez, head of medical diagnostics at Sanofi Genzyme.

For example, proper diagnoses of Gaucher disease can take 10 years or more, while late-onset Pompe disease—with symptoms including impaired cough, difficulty swallowing and persistent chest infections—can take an average of 16 years from symptom onset to the patient seeking treatment, according to Sanofi Genzyme.

Lysosomal storage disorders are inherited diseases resulting from defects in the enzymes that govern metabolic processes, such as the breakdown of large molecules within cells. These waste molecules accumulate, disrupt cell function and can lead to progressive organ damage. They can be frequently misdiagnosed, with a range of symptoms and disease progression from early childhood to late adulthood.

RELATED: Enzyvant and PerkinElmer to develop gene test for ultrarare Farber disease

The two companies hope genetic testing can help confirm diagnoses and advance patients to treatment faster. Sanofi Genzyme’s investigational pipeline includes olipudase alfa, which has received a breakthrough designation in acid sphingomyelinase deficiency and is in a phase 2/3 trial—as well as venglustat, which is being studied in Gaucher, Fabry and Parkinson’s disease, in addition to autosomal dominant polycystic kidney disease. Sanofi Genzyme also received approval for Lumizyme in Pompe disease.

Meanwhile, PerkinElmer teamed up with Roivant Sciences’ rare disease arm Enzyvant, to develop a genetic test for Farber disease that has fewer than 100 confirmed cases worldwide, according to the National Institutes of Health. The test aims to create a wider market for Enzyvant’s enzyme replacement therapy currently in preclinical studies, RVT 801, a recombinant form of acid ceramidase.

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