Sanofi Rare Diseases Medical
Pompe Disease

Pompe Disease 101
An overview of Pompe disease, including pathophysiology, disease spectrum, challenges in diagnosis, and testing and disease registry resources for providers.

New to Molecular Testing?
This short video provides general education on molecular testing for healthcare providers who are unfamiliar with the process.

____________________________________________________________________________________________________________________________________

Newborn Screening
This brochure provides a brief synopsis of Pompe disease spectrum, diagnosis, and newborn screening algorithms.
____________________________________________________________________________________________________________________________________

Diagnosing Pompe Disease
This full Pompe testing brochure includes an overview of incidence, evaluations for diagnosis, and a selection of laboratories offering both GAA enzyme assay (acid α-glucosidase) and GAA sequencing.
This is not an exhaustive list of labs, or an endorsement of any one lab. Other testing options can be found at https://www.concertgenetics.com (free login required) or https://www.ncbi.nlm.nih.gov/gtr. Sanofi does not review or control the content of non-Sanofi websites. These listings do not constitute an endorsement by Sanofi of information provided by any other organizations. Tests may not be available in all states. Please contact the laboratory to confirm test availability, sample shipping information, and all other logistics.
____________________________________________________________________________________________________________________________________

Limb-Girdle Muscle Weakness
This brochure provides information on limb-girdle muscle weakness, a heterogeneous group of disorders that share considerable phenotypic overlap with late-onset Pompe disease, including an overview of incidence, evaluations for diagnosis, and a selection of laboratories offering gene panels for limb-girdle muscle weakness.
This is not an exhaustive list of labs, or an endorsement of any one lab. Other testing options can be found at https://www.concertgenetics.com (free login required) or https://www.ncbi.nlm.nih.gov/gtr. Sanofi does not review or control the content of non-Sanofi websites. These listings do not constitute an endorsement by Sanofi of information provided by any other organizations. Tests may not be available in all states. Please contact the laboratory to confirm test availability, sample shipping information, and all other logistics.

eDiagnosis: Innovations to Shorten the Rare Disease Diagnostic Journey
In this medical symposium “eDiagnosis: Innovations to Shorten the Rare Disease Diagnostic Journey” from the WORLD 2023 conference in February 2023, Jennifer Ibrahim, MD (Sanofi), Christopher Rudolf (CEO, Volv Global), Lisa Sniderman King (Sanofi), and Nicholas Wong (Sanofi) discussed the following topics:

Introduction

____________________________________________________________________________________________________________________________________

Pompe Disease Predictive Algorithms: Creating and Deploying Algorithms in UK & European Countries

____________________________________________________________________________________________________________________________________

Software as a Medical Device: An Overview of the Regulatory Landscape

Sanofi does not review or control the content of non-Sanofi websites. These listings do not constitute an endorsement by Sanofi of information provided by any other organizations.

Concert Genetics (free login required)
____________________________________________________________________________________________________________________________________

Genetic Home Reference
____________________________________________________________________________________________________________________________________

Association for Glycogen Storage Disease
____________________________________________________________________________________________________________________________________
