Patient Services

Genzyme is committed to advancing the understanding of Pompe disease and other inherited disorders. As part of this commitment, Genzyme offers access to information and support services for healthcare providers and patients with genetic diseases.

Genzyme Medical Information

For information about Pompe disease or ongoing clinical trials, please contact Genzyme Medical Information from 8am until 6pm EST, Monday through Friday at:

1-800-745-4447, option 2 (toll free)
1-617-768-9000, option 2

Genzyme Care Coordination in the U.S.

With almost 20 years of experience, Case Managers in Genzyme’s Patient and Product Services Department provide free and voluntary care coordination, support and services to individuals living with Pompe disease who reside in the United States.  Genzyme Case Managers are healthcare professionals employed by Genzyme committed to helping individuals connect with all resources available to them.  

Information provided will always be kept confidential.  Genzyme offers these Care Coordination services in strict compliance with patient privacy regulations (HIPAA).

Someone who has been diagnosed with Pompe disease, may have questions or concerns – we can help.  We understand that each person with Pompe disease has their own unique story and experience.  Our Case Managers are ready to listen and tailor their services to fit individual needs. 

Care coordination services provided by Genzyme Case Managers include:

  • One-on-one, personalized support for patients and family members
  • Information about diagnostic testing and medical experts for Pompe disease in specific geographical areas
  • Identify insurance or alternative funding options for testing and evaluations related to Pompe disease
  • Disease-related educational materials for patients, families and medical providers
  • Information about the Pompe Registry
  • Coordination and exchange of information between patient's healthcare providers, insurers and others who play a role in the diagnosis and treatment of Pompe disease as needed

Anyone residing in the United States who would like to speak with a Case Manager can call between 8am and 6pm, EST Monday – Friday:

1-800-745-4447 (option 3) or
1-617-768-9000 (option 3)
Your Call, Our Commitment

Spanish-speaking Case Managers as well as interpreters for other languages are available.

Genzyme Support Services

Learn how Genzyme can help people affected by Pompe disease with medical information, advocacy, treatment support, and more.

Learn More

Organizations & Websites

Get lists of online resources and worldwide organizations and associations that offer information, support, and more for people living with Pompe disease.

Learn More