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  • Pompe Registry
  • Disease Overview
    • Mechanism of Disease
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    • Diagnosing IOPD
    • Impact of IOPD
    • Management of IOPD
  • Late-Onset Pompe Disease
    • Diagnosing LOPD
    • Impact of LOPD
    • Management of LOPD
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  • Not Sure It’s Pompe
  • Disease Overview
    • Mechanism of Disease
    • Genetics of Pompe Disease
  • Infantile-Onset Pompe Disease
    • Diagnosing IOPD
    • Impact of IOPD
    • Management of IOPD
  • Late-Onset Pompe Disease
    • Diagnosing LOPD
    • Impact of LOPD
    • Management of LOPD
  • Testing Options
  • Resources
  • Not Sure It’s Pompe
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Resources for Healthcare Providers

Tools and resources for you, the healthcare provider, to expand your knowledge and understanding of Pompe disease.

DOWNLOADABLE RESOURCES

Diagnostic algorithm for infantile-onset Pompe disease Diagnostic algorithm for late-onset Pompe disease Genetics and Pompe disease

ORGANIZATIONS FOR RARE DISORDERS

Family Voices

Genetic Alliance

Global Genes

National Alliance for Caregiving

National Organization for Rare Disorders, Inc. (NORD)

Office of Rare Diseases at the National Institutes of Health

CAREGIVER RESOURCES AND SUPPORT

CaringBridge.org

Center for Parent Information and Resources

Family Caregiver Alliance

National Caregivers Library

National Family Caregivers Association

Parent to Parent (P2P) USA

Well Spouse Association

CLINICAL TRIALS

Clinical Trials.gov

The Center for Information and Study on Clinical Research Participation

CenterWatch

ResearchMatch

GENETICS AND GENETIC COUNSELING

Know Your Genes

National Society of Genetic Counselors

PATIENT ORGANIZATIONS SUPPORTING POMPE DISEASE

Acid Maltase Deficiency Association

Association for Glycogen Storage Disease

International Pompe Association

Muscular Dystrophy Association

United Pompe Foundation

Pompe Testing

The diagnosis of Pompe disease is confirmed by the lack/deficiency of GAA enzyme in tissues and genetic mutational analysis of the GAA gene. Find U.S. Testing Laboratories here.

TESTING

Have Questions?

Call +1(800) 745-4447

And select option 2

OR

ASK A MEDICAL QUESTION

NOT SURE IT's POMPE? SHARED SYMPTOMS

BrandX® is a long-acting human insulin analog indicated to improve glycemic control in adults with diabetes mellitus. BrandX® should be administered subcutaneously once a day at the same time every day. Important Limitations of Use: BrandX® is not recommended for treating diabetic ketoacidosis. Use intravenous, short-acting insulin instead. 

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