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Advancing Pompe Care: Module 4 – Expert Q&A: Real-World Challenges in LOPD Care

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Description

This program is supported by an independent educational grant from Amicus Therapeutics. This education program is designed for healthcare professionals globally (excluding the USA).

This is Module 4 of a four-part on-demand series. Join Pompe disease experts Prof. Pascal Laforêt and Prof. John Vissing for this accredited, interactive global education program exploring real-world strategies to enhance the recognition, monitoring, and individualized treatment of late-onset Pompe disease (LOPD).

Accreditation: EBAC

Program Highlights

  • Improve early recognition of heterogeneous LOPD phenotypes, including respiratory-only, axial-dominant, and presymptomatic presentations
  • Incorporate multimodal monitoring—quantitative MRI, diaphragm ultrasound, and digital metrics—to identify subclinical progression and guide individualized therapy
  • Apply the European Triple-S framework to support evidence-based initiation, switching, or discontinuation of therapy

Who Should Attend?

This program is designed for global healthcare professionals involved in the diagnosis and management of Pompe disease, including:

  • Neuromuscular Specialists
  • Geneticists
  • Neurologists
  • Lysosomal Disease Specialists
  • Respiratory Physicians, Genetic
  • Counselors, Pediatricians,
  • Other healthcare professionals involved in Pompe Disease

Faculty

Prof. Pascal Laforêt

A leading neuromuscular specialist at the Pitié-Salpêtrière University Hospital (Paris), Prof. Laforêt is internationally recognized for his clinical and research expertise in metabolic myopathies, including Pompe disease. He has led major natural-history studies, therapeutic trials, and guideline initiatives shaping modern LOPD diagnosis and management.

Prof. John Vissing

Director of the Copenhagen Neuromuscular Center and Professor of Neurology at the University of Copenhagen. Prof. Vissing is a global authority on inherited myopathies and innovative diagnostic technologies, with extensive experience in clinical trials, quantitative imaging, and multidisciplinary models of care for Pompe disease and related disorders.

Kevin Annesley

A patient advocate with the Pompe Support Network. Since his diagnosis in 2008, Mr Annesley has participated in several clinical trials and serves as a Community Advisory Board (CAB) member for the International Pompe Association (IPA).

Program Schedule: Full Series

Module 1 – Diagnosing Diverse LOPD Phenotypes

Recognizing respiratory-only, axial-dominant, and presymptomatic presentations; applying phenotype-specific testing triggers and coordinating multidisciplinary referrals.

Please click here to access Module 1.

Module 2 – Monitoring Subclinical Progression

Integrating muscle MRI, diaphragm ultrasound, and digital activity data to detect early decline and individualize therapy adjustments in “stable” LOPD.

Please click here to access Module 2.

Module 3 – Applying Triple-S to Treatment Decisions

Using the European Triple-S framework and comparative evidence to guide therapy initiation, transitions, and shared care planning.

Please click here to access Module 3.

Module 4 – Expert Q&A: Real-World Challenges in LOPD Care (Current Module)

Faculty responses to HCP-submitted questions on early diagnosis, multimodal monitoring, shared decision-making, and navigating emerging therapies.

Interview with Patient Advocate

Please click here to access the Patient Advocate interview.

Faculty Disclosure Statement / Conflict of Interest

In compliance with EBAC guidelines, all speakers/ chairpersons participating in this programme have disclosed or indicated potential conflicts of interest which might cause a bias in the presentations.

The Organizing Committee/Course Director is responsible for ensuring that all potential conflicts of interest relevant to the event are declared to the audience prior to the CE activities.

Pascal Laforêt, MD, PhD has disclosed financial relationships within the past 36 months with the following ineligible companies:

Consultant/Strategic advice/Advisory Board for Amicus Therapeutics, Astellas, Sanofi, Shionogi

Grant/Research Support from Amicus Therapeutics, Astellas, Sanofi

Educational Activities honoraria with Atticus, Sanofi

John Vissing, MD, PhD has no financial interests, relationships, or affiliations in relation to this activity.

Kevin Annesley has no financial interests, relationships, or affiliations in relation to this activity.

Accreditation

This activity has been planned and implemented in accordance with the accreditation requirements and policies of the European Board for Accreditation of Continuing Education for Health Professionals (EBAC)

MedAll is an EBAC accredited provider since 2025. The European Board for Accreditation of Continuing Education for Health Professionals (EBAC) accredits Continuing Education (CE) programmes for the international medical community.

This program is accredited by the European Board for Accreditation of Continuing Education for Health Professionals (EBAC®) for 15 minutes of effective education time.

EBAC® holds an agreement on mutual recognition of substantive equivalency with the US Accreditation Council for CME (ACCME) and the Royal College of Physicians and Surgeons of Canada, respectively.

Through an agreement between the European Board for Accreditation of Continuing Education for Health Professionals (EBAC®) and the American Medical Association, physicians may convert EBAC® External CME credits to AMA PRA Category 1 Credits. Information on the process to convert EBAC® credit to AMA credit can be found on the AMA website. Other healthcare professionals may obtain from the AMA a certificate of participation in an activity eligible for conversion of credit to AMA PRA Category 1 Credit.

The Accreditation Council for Continuing Medical Education (ACCME) and the Royal College of Physicians and Surgeons of Canada hold an agreement on substantial equivalency of accreditation systems with EBAC.

EBAC® is a member of the International Academy for CPD Accreditation (IACPDA) and a partner member of the International Association of Medical Regulatory Authorities (IAMRA).

Participation Costs

There is no cost to participate in this program.

Requirements for Completion

To receive credit, participants must complete the full activity, the post-test, and the evaluation form before the stated expiration date. There are no prerequisites, and there is no fee to participate or claim credit. A Certificate of Completion will be issued upon successful completion of all required components.

A minimum passing score of 70% on the post-test is required. Participants should consult their own professional licensing authority regarding eligibility to claim credit for this educational activity.

EBAC® only awards CE certificates in increments of 1.0 credit.

Launch and Expiration Date: 25 February 2026 – 24 March 2027

Estimated time to complete this activity: 15 minutes

System Requirements

Mobile device (e.g., large-format smart phone; laptop or tablet computer) or desktop computer with a video display of at least 1024 × 768 pixels at 24-bit color depth, capable of connecting to the Internet at broadband or faster speeds, with a current version Internet browser and popular document viewing software (e.g., Microsoft Office, PDF viewer, image viewer) installed. Support for streaming or downloadable audio-visual materials (e.g., streaming MP4, MP3 audio) in hardware and software may be required to view, review, or participate in portions of the program.

Disclosure of Unlabelled Use

This certified continuing medical education (CME) activity may contain discussion of unlabeled or investigational uses of commercial products or devices. In accordance with applicable standards, all faculty are required to disclose any planned discussion of unlabeled or investigational uses. Such discussions are intended solely for educational purposes and must not be construed as recommendations for clinical use.

Learners are advised to review the prescribing information for each product, including indications, contraindications, warnings, and approved uses as approved by relevant regulatory authorities.

The accredited provider does not endorse the use of any product outside the approved labeling.

Clinical decisions should always be made based on current evidence, official guidance, and the clinician’s professional judgment.

Disclaimer

This activity is intended for educational purposes only and does not establish a standard of care or replace clinical judgment. Any therapeutic or diagnostic strategies discussed must be evaluated in the context of each patient’s clinical circumstances, risks, and current evidence.

Learners should consult authoritative clinical guidelines and approved product information when considering treatment decisions.

All materials are used with permission. The views expressed are those of the faculty and do not necessarily reflect those of the accredited providers, MedAll, or any supporters.

Content is accurate as of the date of release.

Learning objectives

Upon completion of this activity, participants should be better able to:

  1. Recognise the heterogeneous, progressive and multi-systemic nature of late-onset Pompe disease (LOPD) and embed multidisciplinary diagnostic pathways that prevent irreversible muscle loss.

  2. Employ holistic, multimodal monitoring, including quantitative imaging, diaphragm assessment and digital function metrics, to uncover subclinical progression and individualise supportive or pharmacologic optimisation in “stable” LOPD.

  3. Apply the European Triple-S framework and the growing comparative-effectiveness evidence to facilitate shared decision-making on initiation, transition or discontinuation of LOPD therapies.

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Computer generated transcript

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The following transcript was generated automatically from the content and has not been checked or corrected manually.

And um so the first question here is, should we be moving away from biopsy as a primary diagnostic tool in favoring early genetic or dry, or should we go to dry genetic or dry blood spot testing and um Uh, Clearly, you know, from, from my pres, maybe I should take this one, Pascal, uh, because I presented this also, uh, earlier, that, that the muscle biopsy, you know, was pretty much all the time, the primary diagnostic tool for many muscle diseases and, uh. In, in, in Pompe disease, clearly, this is uh not a good, in LOPD at least, it's not a good way to go. If you have an IOPD patient, yes, it would be uh diagnostic, but you can also do genetics, genetics there. But in LOPD you would miss the diagnosis in quite a high percentage of cases, you would not see the vacular myopathy that you would wanna see. Uh, so, uh, if you have any suspicion of, of, of LOPD, you should go either for dry blood spot testing or a genetic test, um, and the genetic test could be opened up if you're in any doubt of any differential diagnosis, uh, to, uh, uh, an exo, uh, sequencing or, or whole genome sequencing, so you get all the differential diagnosis. And the next question uh we have here is, um, Do you want to take this, uh, Pascal, or yes, I can take this one. So in patients with normal CK levels, what red flags should still prompt a suspicion of LOPD? Uh, good question, because, as John mentioned and probably in your talk, CK levels are not always elevated in LOPD. So when you have a patient with muscle weakness, if the CK levels are normal, it's not excluding of Pompeii disease. So we need to go back to the clinics. And really the main diagnostic clue is a phenotypes, the clinical phenotypes in this case with proximal muscle weakness, actual weakness, tongue involvement in some patients, and a respiratory involvement. So these are not really red flags, but a clinical clue which are very important. Yes, and perhaps we, we, we should, I completely agree with you, Pascal, uh, but, but, uh, though, you know, in probably 90% of patients, it, the CK will be a little bit elevated, and as you also pointed out, not a lot below 1000. So, so you would expect that in, in, in, uh, most patients, it would be a little bit uh elevated. But as you said, it can be normal, and then you should be prompted by what what you're saying. Yes. So Do we have another question, uh, coming up? So beyond skeletal muscle and respiratory systems, what are the systemic manifestations should you, should a multidisciplinary team monitor in LOPD patients? OK, so this is, uh, a little bit more complex, um, maybe we should share this one, obviously, uh, alpha glucosidase deficiency is not only present in the muscle. It's it's, it's deficient in all tissues in, in, in the body. Maybe it's most prominent in the muscle, but, um, we, we know from, from, uh, from, from patients that they can have uh symptoms from any, uh, organs, uh, so, uh, cerebrovascular events are. I wouldn't say common, but they are more common in pom pompe patients, they can have aneurysms. They can have gastrointestinal uh symptoms. Clearly, in, in patients that are younger, you can also have, uh, cognitive problems. So, I mean, it also matters in the brain, at least in if the deficient is very, very severe, this is not so common in LPD. We can say the same for the, for the heart. That, that, uh, in, in, uh, in infants, uh, this can be fatal, uh, because their heart is affected. This is not. Very common in, in adult patients. And uh so, so it, you have to have a multidisciplinary uh approach to these patients, which I think has dawned on us quite late because everybody was sort of focused on, on the skeletal muscle involvement. Pascal, do you have any more comments to this? Yes, maybe I can add, I fully agree with you about the bladder problem or gastrointestinal problem. I think that these features are probably Underdiagnosed or because we don't ask so easily to the patients when we are neurologists questions regarding urinary problems or digestive problems, and this is probably an important point for some patients. Yes, yeah. And the next, so why is assessing FEC in the supine position considered more sensitive than standard setting assessment for these patients? And I think Pascal, you talked about this in your in your talk about the diaphragmatic weakness. Yes, so as this question is also very important because respiratory involvement is an important part of this disease and a major prognostic value. I wouldn't say that the supine position is more sensitive. What is important is to assess both sitting and supine vital capacity. And this is a difference between the sitting and supine capacity which can show evidence of diaphragmatic involvement. So when you have a drop of more than 20% between supine and sitting, the symptoms of diaphragm involvement. So. Values are very important to assess and in practice the supine value is not always performed because the techniques are not always the same. The ophthalmologists are not always familiar with Pompey disease or neuromuscular disorder, so this is really important in Pompeii. Yeah, and John, maybe you want to comment also. No, no, no, I completely agree, and, and, and perhaps you can add to these assessments, you can also add MIP and MP. Uh, which is somehow shows a little bit, you know, more of the muscle strength of the respiratory, uh, muscles, but this is not routinely done. I'm not promoting this as a routine, uh, analysis, but it's probably a more sensitive, uh, way of, uh, looking at it. Mm And do you, do we have another question, uh? So how should we practically apply the 20% fat fraction rule from the European Pump Consortium guidelines when using muscle MRI to monitor stable patients? So, so you, you talked about this, Pascal, you know, that the EPOC rules say that, you know, if you're below 20%, maybe it's watchful waiting. Before, before starting, yes, it's a tricky question, and indeed when you observe abnormal fat replacement of the muscle, it's a sign of progression of the disease, but the quantification of this fat fraction is still difficult because it's more clinical. Than really quantify. So perhaps Jones, you want also to comment because I know that you work a lot on MRI, but I think that the message is more to say that when you observe abnormal fat infiltration, despite a normal muscle testing, you can take it into account to make a decision for treatment of the patients. But John, you, you can, yeah, yeah, I agree, I, I, I think, you know, um, I think what can be said is that maybe people don't know this, but the fat fraction of, of healthy persons in, in most muscles is below 10%. Uh, so, so while Paris.