Rare Disease Treatment & Monitoring

The Rare Disease Specialty Testing Program (RDSTP) is a biomarker and immunogenicity testing program sponsored by Sanofi. This program is provided at no charge to Canadian clinicians who have patients diagnosed with certain lysosomal storage disorders, including Mucopolysaccharidosis I (MPS-I), Pompe, Fabry, and Gaucher diseases. The RDSTP includes anti-drug antibody and adverse event-related testing, and can be accessed by clinicians managing patients who are receiving Sanofi therapy for these rare disorders. The RDSTP also includes biomarker testing to support clinicians in monitoring disease progression and/or response to treatment.

Immunogenicity and Biomarker testing

Anti-Drug Antibody (Immunogenicity) Testing

Immunogenicity Testing

The RDSTP offers complimentary immunogenicity testing, including adverse event-related testing and anti-drug antibody testing. This service is currently available for clinicians who have patients diagnosed with Mucopolysaccharidosis I (MPS-I), Fabry, Gaucher, or Pompe diseases, and who are receiving Sanofi therapy.

Anti-drug antibody testing includes serum immunoglobulin G antibody tests specific to each Sanofi treatment for these lysosomal storage disorders. Adverse event hypersensitivity testing is also available and includes serum allergen-specific immunoglobulin E tests specific to each treatment. Plasma complement activation and serum tryptase tests are available to evaluate general adverse event hypersensitivity.

For MPS-I, Fabry, and Pompe, neutralizing antibody testing to further characterize a positive anti-drug IgG antibody response is also available.

Biomarker Testing

Biomarker Testing

Biomarker testing can help clinicians to monitor disease progression and assess response to treatment, where applicable, in their patients with rare diseases. The Sanofi-sponsored RDSTP provides tools to support clinicians with patients who have been diagnosed with lysosomal storage disorders, including Fabry, Gaucher, or Pompe diseases. This testing is available regardless of treatment status.

Biomarker testing includes GL-3/Lyso-GL3 for patients with Fabry disease, Lyso-GL1 for patients with Gaucher disease, and Glc4 for patients with Pompe disease.

More information about sample collection and submission is available once an account has been created.

RDSTP and specimen collection services

Get in touch for more information about the RDSTP and specimen collection support services. For both RDSTP immunogenicity and biomarker testing, complimentary specimen collection support services are available.

The RDSTP is not intended to, and should not, interfere in any way with a clinician’s or patient’s independent judgement and freedom of choice in the testing and treatment options for these diseases. Clinicians and patients should always consider the full range of testing and treatment options and select those most appropriate for the individual patient.

In addition to the RDSTP, Sanofi Canada also offers Roadmap2Rare, a collection of sponsored rare disease diagnostic testing services and tools available to Canadian clinicians. Roadmap2Rare provides diagnostic support for the following lysosomal storage disorders: Pompe, Fabry, and Gaucher diseases, Acid Sphingomyelinase Deficiency (ASMD), and Mucopolysaccharidosis I (MPS-I). This support is provided in collaboration with Revvity Omics (formerly PerkinElmer Genomics). For support of patients on Sanofi therapy, Sanofi also offers the Rare Together Patient Support Program. This program offers an individualized approach for rare disease patients receiving Sanofi therapy and aims to assist patients on their rare disease journey, including addressing barriers and supporting access to treatment and related services.