Acid Maltase Deficiency Association - AMDA

09/03/2026

📬 Have you read the September AMDA Newsletter yet?

There is A LOT happening in the Pompe community this month, and we packed this issue with research, upcoming events, community resources, opportunities to participate, and a few things just for fun.

Inside the September issue:

A closer look at emerging research into brain involvement in Pompe disease and our upcoming Duke webinar on CNS biomarkers

A new Talking With Your Pompe Peeps conversation about resilience with Dwayne Wilson

The return of the AMDA Research Grant and a new call for research proposals, with up to $150,000 in funding available

Grant’s Giants’ upcoming Pompe Family Meet Up and a special support opportunity for siblings of children with Pompe

A home-based Pompe research study from Boston Children’s Hospital

Mental health and caregiver resources for the rare disease community

A new Pompe Kitchen recipe

Upcoming events, observances, research opportunities, community news, and more

September is also Muscular Dystrophy Awareness Month, so we’re looking at where the Pompe community fits within the larger muscle disease community and introducing you to someone who has spent years bringing those communities together.

There really is something for almost everyone in this issue.

Take a few minutes to explore the September AMDA Newsletter and see what you may have missed.

Visit our website to view the newsletter and Sign up to receive future emails. https://amda-pompe.org/newsletters/

❤️ Pompe disease is rare, support shouldn’t be.

09/01/2026

Research Opportunity for Latino Parents & Families

AMDA has been asked to share a research opportunity from the University of Arkansas for Medical Sciences (UAMS) focused on Latino parents’ experiences navigating genetic care for their children.

The study is being conducted by genetic counseling student Linnete Arceo under the guidance of Lori Williamson Dean, MS, CGC. Researchers are especially interested in understanding how culture, family, and personal beliefs may shape a family’s experience with genetic care.

Participation involves a one-time interview, and responses will be deidentified and kept confidential. The study has received IRB approval ( #299962).

For families affected by rare and genetic conditions, experiences with diagnosis, communication, medical care, and decision-making can be deeply personal. Research that listens directly to families can help build a better understanding of those experiences and potentially improve care for others in the future.

If you are a Latino parent and believe you may be eligible, you can learn more or express interest here.

https://redcapconnectt1.uams.edu/redcap/surveys/?s=4MP9JL8D8XRJYAKF

Participation is completely voluntary. Please see the study flyer for additional details and contact information.

08/31/2026

🌿 It’s Eat Outside Day!

There’s something about fresh air that can make even an ordinary meal or snack feel a little different.

Spending time outdoors can be good for both mental and physical well-being. Natural light helps support the body’s sleep-wake cycle, and time outside has been associated with reduced stress and improved mood.

So, take your coffee, lunch, dinner, or favorite snack outside, snap a picture, and share it with us in the comments!
We’d love to see where everyone is enjoying a little fresh air today. 📸🌿

Pompe disease is rare, support shouldn’t be.

08/27/2026

🧩 Guess the Pompe Term!

This week’s term is a little more challenging!

It describes whether a person with Pompe disease produces any naturally occurring GAA enzyme protein. This can be especially important in infantile-onset Pompe disease because it may influence how the immune system responds to enzyme replacement therapy (ERT).

Do you know the term?

Drop your guess in the comments. We’ll reveal the answer tomorrow!

Understanding terms like this can help patients and families better understand the science behind Pompe disease and why treatment approaches may differ from one person to another.

Pompe disease is rare, support shouldn’t be.

08/25/2026

📅 Save the Dates!

We have two great opportunities to learn and connect with the Pompe community coming up in September!

🌷 September 24 at 10:00 a.m. CT
Biomarkers of Central Nervous System Involvement
with Kristin Haggarty-Waite PHD RN LDN

🌷 September 29 at 6:00 p.m. CT
Talking With Your Pompe Peeps
The Importance of Being Resilient: Finding Hope When Life Gets Hard
with Dwayne Wilson

Registration is open now! Save your spot and add these dates to your September calendar. We’re looking forward to two very different conversations, one focused on what we’re learning about Pompe disease and the other on navigating the challenges that can come with living with it.

https://amda-pompe.org/webinars/

We hope you’ll join us!

Pompe disease is rare, support shouldn’t be.

08/25/2026

Understanding Your Labs: Anti-Drug Antibodies (ADA)

If you receive enzyme replacement therapy (ERT) for Pompe disease, you may hear your care team talk about anti-drug antibodies, or ADA.

Because ERT provides a manufactured form of the GAA enzyme, the immune system can sometimes recognize the replacement enzyme as foreign and develop antibodies against it.

Having detectable antibodies does not automatically mean your treatment isn’t working. What matters can include whether antibodies are present, how high the antibody titer is, whether levels are increasing or decreasing over time, and whether they appear to be affecting your response to treatment.

This is one reason your Pompe care team may follow antibody levels alongside other information such as CK, Hex4, muscle and respiratory function, symptoms, and your overall response to therapy.

As with other Pompe lab results, ADA results should not be interpreted in isolation. Your Pompe care team can help explain what your antibody results and trends mean in the context of your treatment and overall health.

Understanding your labs can help you ask informed questions and take a more active role in your care.

Pompe disease is rare, support shouldn’t be.

Have questions about Pompe disease or navigating your care? Contact AMDA through our website or social media.

08/24/2026

Here’s a great opportunity to get involved!

If you’ve been looking for a way to volunteer or use your voice to advocate for the rare disease community, NORD is hosting a virtual session to share more about current volunteer and advocacy opportunities.

Take a look at the information below for details on how to join this Thursday, August 27 at 4:00 p.m. ET.

Looking for a meaningful way to support the 1 in 10 Americans living with a rare disease?

RSVP to join us on Aug. 27 from 4–5 p.m. ET for a virtual information session to learn about volunteering with NORD: https://bit.ly/3LXYi3d

Whether you’re interested in engaging with lawmakers, running for rare, or sharing your story, there’s a place for you on our team.

08/22/2026

In case you missed it!

This week, AMDA welcomed Deeksha Bali, PhD, FACMG, for our webinar, “What Do Your Pompe Test Results Really Mean? The Evolution of Pompe Diagnostics.”

Dr. Bali gave us a fascinating look at what we can learn from Pompe disease testing and how much work is still being done to improve what those results can tell us.

One of the important takeaways was the growing challenge of variants of uncertain significance (VUS) in the GAA gene. Detailed clinical information and functional testing can help researchers better understand and classify these variants, which can play an important role in confirming a Pompe diagnosis and determining when clinical monitoring or treatment may be needed.

As more GAA variants are identified, this work is becoming increasingly important.

We were thrilled to have such a great turnout for this webinar! These sessions are one of the ways AMDA works to connect the Pompe community with experts who can help us better understand the science behind diagnosis, monitoring, treatment, and research.

If you missed the live webinar, we will be posting the recording on the AMDA website under Webinars, so you’ll have another opportunity to watch and learn.

We would also love to see you at an upcoming AMDA webinar or one of our Talking With Your Pompe Peeps (TWYPP) sessions. Whether you come for the science, the conversation, the community, or a little of all three, there is always something to learn and someone to connect with.

Keep an eye on our social media and website for upcoming events.

Pompe disease is rare, support shouldn’t be.

08/21/2026

From Raquel Van Gool and Jaymin Upadhyay comes a new research opportunity for the Pompe community!

AMDA receives many requests to share research studies, and we are very selective about the participant recruitment opportunities we post. This is one we feel is worth bringing to our Pompe community.

Raquel Van Gool and Jaymin Upadhyay of Boston Children’s Hospital, researchers whose work and commitment to the Pompe community we have come to know and respect, are looking for children and young adults with Pompe disease to participate in a home-based research study examining speech, muscle function, cognition, motor skills, breathing, and swallowing.

The study is open to participants ages 5–21 with IOPD or LOPD who have been on ERT for at least three months. It includes four visits over 12 months. The first takes place in the participant’s home, with follow-up visits conducted remotely over Zoom. All study assessments are non-invasive and provided at no cost, and participants may receive up to $275 for completing all visits.

We are glad to help share this opportunity and connect families with researchers doing meaningful work to better understand Pompe disease. Research like this depends on participation from the community, and we want families who may be eligible to have the opportunity to learn more.

For questions or to learn more about participating:

Raquel Van Gool
[email protected]
(617) 301-0920

Jaymin Upadhyay
[email protected]
(917) 736-1541

Please see the flyer for complete study details.

08/21/2026

Do you know who your case manager or PEL is?

With the current Pompe therapy supply interruption, now is an important time to make sure you know who to contact and that they can contact you.

If you receive a Sanofi Pompe therapy, take a few minutes to confirm:

• You know the name and contact information for your case manager and/or PEL.
• Your phone number and email address are current.
• You are signed up to receive important communications by phone, text and email.
• Any required consent or communication agreements are signed and up to date.

If you are unsure who your case manager or PEL is, or you have not been receiving updates, call 1-800-745-4447, option 3. Ask them to confirm your assigned contact and make sure you are signed up to receive phone calls, texts and emails.

During a supply interruption, staying connected can help make sure you receive important information about your infusions as soon as it becomes available.

Please share this reminder with others in the Pompe community.

Pompe disease is rare, support shouldn’t be.