Roadmap2Rare provides support for the following lysosomal storage disorders: Pompe, Fabry, and Gaucher diseases, Acid Sphingomyelinase Deficiency (ASMD), and Mucopolysaccharidosis I (MPS-I). Services are provided in collaboration with Revvity Omics (formerly known as PerkinElmer Genomics).

Roadmap2Rare and other initiatives:

Roadmap2rare family history

Family History

As rare diseases often have a genetic component, family history can be important. Sanofi sponsors Family Tree Testing (i.e., familial variant sequencing) after clinician identification of a proband patient. This complimentary genetic testing is available to Canadian clinicians with eligible patients.

For Fabry disease specifically, Sanofi also sponsors the Fabry Find Tool. This tool has been created to help clinicians build family trees after the identification of a Fabry proband patient.

Rare Disease Screening


Sanofi Canada is working towards the launch of several Electronic Medical Record screening initiatives in Canada. These initiatives will offer clinicians the option to scan records for patients who are at high risk of having a rare disease.

Rare Disease Diagnostic Programs


In collaboration with Revvity Omics (formerly PerkinElmer Genomics), Sanofi Canada has launched the Roadmap2Rare Diagnostic Program, a sponsored testing program for several rare diseases, including Pompe, Fabry, and Gaucher diseases, ASMD, and MPS-I. This diagnostic testing program includes complimentary enzymatic activity, biomarker, and genetic testing. 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.

Rare Disease Treatment & Monitoring

Treatment and Monitoring

After a rare disease diagnosis, clinicians may wish to monitor disease progression. Sanofi provides access to complimentary biomarker monitoring for patients with Pompe, Fabry, or Gaucher diseases, regardless of treatment status, through the Rare Disease Specialty Testing Program (RDSTP).

The RDSTP also covers immunogenicity testing of patients with MPS-I, Pompe, Fabry, and Gaucher diseases who are receiving Sanofi treatment. This immunogenicity testing includes complimentary analysis of anti-drug antibody levels and characterization of adverse event-related hypersensitivity reactions.

Rare Disease Rare Together Patient Support Program

Patient Support

The Rare Together Patient Support Program offered by Sanofi Canada provides support for patients with lysosomal storage disorders receiving Sanofi therapy, and support for treating clinicians.

Rare Together is tailored to each patient and aims to help address barriers and support access to treatment and services. Rare Together supports reimbursement navigation, patient education, and in-clinic or in-home drug administration for infusion therapies.

Roadmap2Rare Infographic

Roadmap2Rare Infographic

Navigating rare disease – sponsored tools and services for screening, diagnosis, monitoring, and patient support.

These tools and services include rare disease screening and diagnostic testing programs for several rare diseases, a Rare Disease Specialty Testing Program to monitor disease progression and response to treatment, and a Patient Support Program for clinicians treating rare disease patients on Sanofi therapy.

Our Roadmap2Rare infographic provides a quick and easy overview to help you navigate the rare disease journey.

Contact us

Sanofi sponsors services and tools that are available to Canadian clinicians along the patient's rare disease journey. For clinicians with questions about any of these programs, please contact us.