Our Mission
The Acid Maltase Deficiency Association’s driving force lies in its efforts to advance research, improve care, and ensure early diagnosis for individuals and families affected by Pompe diseaseA rare genetic disease in which the body cannot properly break down glycogen, leading to buildup that damages muscles and can affect breathing and, in some cases, the heart.. Founded by the House family and guided by individuals living with Pompe disease, AMDA works through deep collaboration with global experts, industry, and policymakers to translate science into informed, compassionate support for the Pompe disease community.
What is Pompe disease?
Research
Webinars
News
Conferences
Recent News
A Heartfelt Thank You to the Krueger Family
The Acid Maltase Deficiency...
Honoring Advocacy: Celebrating Tiffany House and the RareVoice Awards
This week is Rare Disease Week, with...
Tiffany House Receives RareVoice Award for State Advocacy
We are honored to share this moment...
2026 PCMA Pull for Pompe Fundraiser
The AMDA is excited to announce that...
With Gratitude: Honoring Our 2025 Donors
The Acid Maltase Deficiency...
Tiffany House and Maryze Schoneveld van der Linde Honored at Sanofi’s Global Rare Impact Awards
At Sanofi’s inaugural Global Rare...
Setting the Record Straight
The truth of Pompe disease
The popular narrative around Pompe treatment has often overlooked the scientists and researchers who truly made it possible. Here are two essential voices on the real history.
Editorial
Pompe in the News: What Happened to the Truth?
Tiffany House — AMDA President (2011 – 2025)
Written on Rare Disease Day 2017, Tiffany’s editorial addresses how media coverage repeatedly misrepresented the origins of MyozymeA form of enzyme replacement therapy used to treat Pompe disease by providing a lab-made version of the GAA enzyme./Lumizyme and honors the research teams at Rotterdam and Duke University, whose decades of work made enzymeA protein that helps the body carry out chemical reactions. replacement therapy possible.
Blog
The Pompe Story
Dr. Kevin O’Donnell — IPA founding member
Dr. O’Donnell was there. A founding member of the International Pompe Association, he witnessed firsthand the triumphs and setbacks that shaped the community. His blog is a first-person account of what actually happened and a vital resource for anyone who wants the full picture.
Recent Blog Posts
The ADA at 36: What the Law Did, and What Only We Can Do
This month marks the 36th anniversary...
Move How You Can, Rest All You Need
Hey, all! Lucas Garrett, here. As we...
New Year’s Resolutions and Hobbies
For many, the end of the calendar year...
Burnout, Creativity, and Rest
For me, music can be one of the best...
Morgan’s Story: When Hope Met Hurricane Katrina
Editor's NoteIn the early years of...
Grief and Rare Disease: Recognizing Loss and Building Grief Literacy
This past May, our hearts broke twice....
Upcoming
Webinar
What Do Your Pompe Test Results Really Mean?
Title: What Do Your Pompe Test Results Really Mean? The Evolution of Pompe Diagnostics: Past, Present, and Future
Date: Thursday, August 20, 2026
Time: 1 p.m. CT / 2 p.m. ET
Speaker:
Deeksha Bali, PhD, FACMG
Summary:
This webinar examines Pompe disease diagnosis in the newborn screening era, drawing on lessons learned since implementation and the growing challenge of novel variants identified each year. It highlights the role of CRIM testing, GAA enzyme and mutationA change in a gene that can affect how it works. analysis, and urine Hex4 biomarkerA measurable sign in the body that helps track disease progression or treatment response. testing in achieving early, accurate diagnosis. The talk underscores an urgent need for a validated, disease-specific functional assay to characterize variants of unknown significance and support their reclassification, benefiting newly diagnosed patients. It also points to the promise of understanding Pompe disease’s molecular mechanisms to predict disease onset and progression and guide treatment decisions, an unmet need for patients identified through newborn screening.
Upcoming Talking With Your Pompe Peeps Session
Setting Sail with Pompe Disease
Title: Setting Sail with Pompe Disease
Date: Friday, August 14, 2026
Time: 1 p.m. CT / 2 p.m. ET
Moderator:
Morgan Burroughs
Summary:
Cruising can be one of the most accessible ways to travel with Pompe disease, but planning one takes some know-how. In this session, our moderator shares a firsthand account of cruising with Pompe, walking through how to request and secure accommodations through the cruise line before departure, what the boarding process was like, what it was like leaving the ship for port excursions and how accessibility factored into those experiences, how energy levels and daily routines varied on sea days versus port days, and how food and accessibility held up throughout the ship. Join us for practical tips and real world insight for anyone with Pompe disease considering a cruise.
Tiffany Laurel House
January 22, 1983 – May 25, 2025
President, Acid Maltase Deficiency Association – Chair, International Pompe Association
“She was a beacon of grace, poise, and determination until the very end.”
Get Involved
Your generous contribution will go a long way into improving the quality of life of Pompe Disease Patients worldwide. Donations go towards Pompe Disease Research.
Acid Maltase Deficiency Association
For the AMDA videos: All Rights reserved. No part of the AMDA's videos may be reproduced or transmitted in any form or by any means, electronic or mechanical, without the written permission of the copyright holder.
If you are interested in learning more about Pompe Disease and would like to make a contribution in support of necessary research, please contact us at:
info@amda-pompe.org
THE AMDA
PO Box 700248
San Antonio, Texas 78270 USA