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Advancing Pompe Care: Module 2 – Monitoring Subclinical Progression

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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 2 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 (Current Module)

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

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

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

Please click here to access Module 4.

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.

Before we begin, it's important that we share our disclosures with you. My learning objective is to employ holistic multimodal monitoring with quantitative imaging, diaphragm, and digital function metrics to uncover subclinical progression and individualized, supportive and pharmacologic optimization in stable LOPD. To introduce uh this topic, uh, I will go back to what we know today about the long-term benefit of ERT with a glucosida alpha, which was the first enzyme replacement therapy uh marketed for Pompeii disease. We now have a quite a long-term experience with nearly 20 years experience of follow-up of LOPD patients, and if you look carefully at this graph, um, assessing more than 10 years of ER. In LOPD, you can see that in most of the patients, the maximal benefit of this treatment occurred in the 1st 3 years of ERT. Looking at the 6 minute walking test, especially, patients saw a stabilization of improvement with ERT in the 1st 3 years, with thereafter a slow decline. Uh, showing a slowness of the rate of the disease. And regarding the vital capacity in the bottom graph, on the left bottom graph, there is a slowing of the slope of a decrease of vital capacity. And importantly, when looking at the individual slopes of the patients treated by ERT on the right part of this slides, we can observe a very high variability of the response. Some patients improving on the top. Of the graph, other remaining stable and other unfortunately declining despite the treatment, and this is very important considering the individualized treatment that we are now considering to know this variability of these patients. And suddenly, the overall data show again that at the beginning on the left part of the slide, the circle shows you that a majority of the patients, more than 90% of the patients, have an improvement either in both parameters which are generally assessed, the 6 minute walking test and the vital capacity, or in only one. But if you look at the right cycles after more than 10 years, less than 50% of the patients remain improved in one or both of these parameters, showing again the limited effect of the therapy in the long term and the necessity to assess very carefully these patients in a real life assessment. Now considering the clinical outcomes and biomarker, which are very important parameters to have in mind when following these patients, I will show you an overview of the different tools that are available today. First of all, the motor function analysis of LOPD patients are extremely important regarding the. Involvement of skeletal muscles in these patients. Many tools are available in neuromuscular disorders from manual muscle testing to 6 minute walking tests to more sophisticated tools such as accelerometry, and it's important today to focus on the most important tools and more easily available and reliable tools. The 6 minute walk test remains the gold standard, which has been performed since early clinical trials in Pompeii disease. This test is very well standardized and it allows an evaluation of the lowering muscles and also respiratory functions. This is in addition, an inexpensive test. That's why it's remained the most used test for assessing the muscle function. However, it's important to have in mind that there is no strict correlation between the lower limb muscle weakness and the respiratory insufficiency. So this test does not allow to differentiate both functions in patients who have involvement of muscles muscles, muscles and. diaphragm muscles and in addition, it does not assess the upper limb muscles which are also frequently involved in late onset pumpe disease, also less severely in general than lower limb muscles and importantly, there are confounding factors such as age, sarcopenia. Bones fracture sometimes which can increase the severity of the difficulties observed in 6 minute walking tests with difficulty to assess the difference between the disease itself and the consequence of age, etc. Can we improve this test? Probably yes, for sure. And um I would like to emphasize that we can probably switch from a 6 minute walk test to a 2 minute walk test more easily to assess. This work from the team of John Vissing showed a very good correlation between 2 minute walk test and 6 minute walk test. Uh, which could be also um extrapolated to other normal muscular disorders. And other dimensions of muscle performance can be also evaluated. These various evaluations include locomotion assessments, neuromuscular performance assessments, and postural controls. These are not used in routine practice, but probably some tests assessing gait in 3D, for example, could be important in the future to combine with a current test and a 6 minute or 2 minute walk test. Another important tools which has been developed in the past years is muscle MRI. The muscle MRI in Pompeii disease is important for different reasons. First of all, it allows to help to diagnosis with a specific pattern. You can see here results of a whole body muscle MRI. At the level of the legs and the bottom of the slice, you can observe a fat infiltrations in white of the posterior part of the thighs, which is quite frequent but not specific of Pompey disease associated to severe paraspinal muscle involvement in the pub. All the paraspinal muscles are white, showing a fat replacement. When looking at the level of the scapular girdle, you can also see with the arrow an involvement of some scapular muscles, especially serratus anterior. Um, which can be affected in Pompeii disease. Some patients presenting scapular ringing, which can be also asymmetrical. And a very important sign is what we call the Brighton sign. The tongue is. Very frequently involved with the fat infiltration, which is also very important to do the diagnosis of Pompeii disease. So when you have this pattern with all these muscles involved, you can evoke quite easily Pompeii disease. And MRI is also an important tool to assess the progression of the disease. We can see in some patients progressive worsening of the fat infiltration, and different techniques are now developed to evaluate to quantify this degradation of the muscle tissue with an evaluation of the muscle volume of the cross sectional area. And also possibility to grade with the mercury score of the proportion of fat infiltration in the muscles, and this technique of quantification will be certainly improved in the future. Another and second very important assessment of LOPD is a respiratory function. You know that diaphragm is frequently involved, and all these patients need to be carefully assessed regarding the pulmonary function test, the assessment of.