The organizations and online resources listed below can provide information and support to patients and families living with Pompe disease through disease education; updates on research, clinical trials, and treatment advances; support groups and counseling; and more. Please note that the websites listed below, with the exception of the Sanofi Genzyme Pompe Disease website, are maintained by the sponsoring organizations, Sanofi Genzyme therefore does not control and is not responsible for the content of these websites.
Acid Maltase Deficiency Association (AMDA)
Formed to assist in funding research and to promote public awareness of acid maltase deficiency, another name for Pompe disease, this U.S. organization is a member of the International Pompe Association.
Association for Glycogen Storage Disease (AGSD)
A parent- and patient-oriented support group based in the U.S. The AGSD was established for parents of and individuals with glycogen storage diseases to communicate, share their successes and concerns, share useful findings, provide support as needed, create an awareness of this condition for the public, and to stimulate research in the various forms of glycogen storage diseases.
A nonprofit health advocacy organization committed to transforming health through genetics and promoting an environment of openness centered on the health of individuals, families, and communities.
International Pompe Association
The International Pompe Association (IPA) is an International federation of Pompe disease patients groups.
Muscular Dystrophy Association (MDA)
A nonprofit health organization dedicated to providing comprehensive services such as disease information, summer camps, and caregiver resources to individuals affected by neuromuscular diseases including Pompe Disease.
National Organization for Rare Disorders (NORD)
A unique federation of individuals and organizations working together to build a better world for people affected by rare diseases.
United Pompe Foundation
An organization formed to assist patients and/or their families with medical costs and other expenses that may not be covered by insurance. The Foundation also hopes to raise public awareness of Pompe disease.
This Sanofi Genzyme-sponsored website provides the Pompe disease community with comprehensive information on the disorder, as well as resources and support to help manage the challenges it may bring.
A U.S. government database, this website provides a searchable online resource for information on federally and privately supported clinical trials conducted in the United States and around the world.
Food and Drug Administration (FDA)
The United States agency responsible for reviewing and regulating drugs, biologics, and medical devices. The FDA's site is a clearinghouse of information for the public, including new product approvals and safety alerts.
National Society of Genetic Counselors
National Society of Genetic Counselors provides information on the genetic counseling profession and its guiding principles. The website helps you locate genetic counseling services in your area.
To learn more about the Pompe Registry
LUMIZYME® (alglucosidase alfa) is an enzyme replacement therapy for patients with Pompe disease (acid α-glucosidase (GAA) deficiency).
WARNING: RISK OF ANAPHYLAXIS, HYPERSENSITIVITY AND IMMUNE-MEDIATED REACTIONS, AND RISK OF CARDIORESPIRATORY FAILURE
Anaphylaxis and Hypersensitivity Reactions: Life-threatening anaphylaxis and hypersensitivity reactions have been observed in some patients during and after treatment with alglucosidase alfa. If such a reaction is severe enough, your doctor may decide to immediately discontinue the infusion and provide you with immediate medical care. Appropriate medical support and monitoring measures should be available during infusion.
Immune-Mediated Reactions: You or your child may be monitored for the development of systemic immune-mediated reactions while receiving Lumizyme. If these reactions occur, your doctor may discontinue the infusion and initiate appropriate medical treatment.
Risk of Acute Cardiorespiratory Failure: Infant Pompe patients with heart or breathing problems who are experiencing an acute respiratory condition may be at risk for increasing the seriousness of these problems as a result of Lumizyme administration due to the infusion fluid, and your child’s doctor may require additional monitoring for these infants.
Risk of Cardiac Arrhythmia and Sudden Cardiac Death during General Anesthesia for Central Venous Catheter Placement: Caution should be used when administering general anesthesia for the placement of a central venous catheter intended for Lumizyme infusion. Ventricular arrhythmias and slow heart rate resulting in cardiac arrest or death have been observed in infant Pompe patients with cardiac hypertrophy during general anesthesia for central venous catheter placement. Appropriate medical support and monitoring measures should be available during infusion.
Risk of Antibody Development: Patients with infantile-onset Pompe disease (IOPD) should be managed by a clinical specialist knowledgeable in immune tolerance induction in Pompe disease to optimize treatment. Some patients who develop high and sustained IgG antibody levels, including certain IOPD patients, may have a reduced response to Lumizyme.
Monitoring: Laboratory Tests: Patients should be monitored for IgG antibody formation every 3 months for 2 years and then annually thereafter.
The most frequently reported adverse reactions during Lumizyme studies in patients were allergy reactions and included: anaphylaxis, rash, fever, flushing/feeling hot, hives, headache, excessive sweating, nausea, cough, less oxygen in the blood, fast heart rate, rapid breathing, chest discomfort, dizziness, muscle twitching, agitation, bluish or purple skin, redness of skin, high blood pressure/increased blood pressure, facial paleness, chills, tremor, vomiting, fatigue, and muscle pain.
Please see the Full Prescribing Information for complete details, including boxed WARNING.