Lysosomal Storage Diseases (LSDs) are a group of rare inherited metabolic disorders caused by defects in lysosomal function, typically due to enzyme deficiencies that lead to the accumulation of undegraded substrates within cells. This accumulation disrupts cell function and leads to varied clinical manifestations, depending on the specific disease and tissues involved. Common symptoms across different LSDs include organomegaly (enlargement of organs), bone deformities, neurocognitive impairment, and in some cases, early mortality. The spectrum of LSDs includes over 50 different disorders, such as Gaucher disease, Fabry disease, and Pompe disease, each linked to specific genetic mutations. Treatment options may include enzyme replacement therapy, substrate reduction therapy, and supportive care to manage symptoms and improve quality of life. Despite their rarity, LSDs represent a significant challenge in medical genetics and pediatrics, requiring specialized knowledge for diagnosis and management.
What is the Program?
In collaboration with Revvity Omics (formerly PerkinElmer Genomics), Sanofi Canada has launched the Roadmap2Rare Diagnostic Program, a sponsored testing program that covers enzymatic activity, biomarker, and genetic testing for several rare lysosomal storage diseases. The program also provides access to multi-gene panels that include common differential diagnoses for Pompe and Fabry disease. Metabolic genotyping for Gaucher disease type 1 (when applicable to certain treatment considerations) is available separately in collaboration with ARCHIMEDlife.
The Roadmap2Rare program offers genetic testing for individuals suspected of having rare lysosomal storage disorders such as Pompe, Fabry, Gaucher, ASMD, and MPS-I diseases. Eligibility for this testing includes patients who live in Canada and who present clinical symptoms indicative of these disorders, have been identified by clinicians as likely having one of these conditions, and need diagnostic confirmation through enzymatic activity, biomarker, and genetic testing.
Package the patient sample, informed consent form, and test requisition form back into the test kit, and utilize the included pre-paid shipping label to return the kit to Revvity Omics for processing.
Program Information
The Roadmap2Rare program, sponsored by Sanofi, offers complimentary genetic and biochemical testing to aid in diagnosing rare lysosomal storage disorders, supporting healthcare providers in Canada with advanced diagnostic tools.
The program is available to Canadian patients suspected of having lysosomal storage disorders, based on clinical symptoms or family history.
The program provides a range of tests for disorders like Pompe, Fabry, Gaucher diseases, and Niemann-Pick Type A and B, aiming to facilitate accurate diagnosis and treatment planning.
Providers can order testing kits through the program’s website or directly contact Revvity Omics for requisition forms and additional information on how to proceed with sample collection and submission.
Early and accurate diagnosis through these tests can significantly enhance treatment outcomes and patient management for those suffering from challenging and often underdiagnosed lysosomal storage disorders.
The genetic and biochemical testing provided by the Roadmap2Rare program is offered at no cost to the patient or the healthcare provider, thanks to sponsorship by Sanofi.
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FABRAZYME® (agalsidase beta) is an enzyme replacement therapy developed by Sanofi for the treatment of Fabry disease. This therapy is designed to replace the missing or deficient enzyme, alpha-galactosidase A, which helps to clear the buildup of globotriaosylceramide (GL-3) in cells, including those lining the blood vessels of the kidneys, heart, and skin. FABRAZYME is indicated for both adult and pediatric patients aged 2 years and older with confirmed Fabry disease. It has been proven to provide long-term efficacy and safety, significantly improving the management of this progressive and potentially life-threatening genetic disorder.
