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Advancing Pompe Care: A Global Education Series | Episode 2 – Is This Stable? Monitoring and Acting on Subtle 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 Episode 2 of a three-part on-demand podcast series. Join Pompe disease expert Prof. Pascal Laforêt for this accredited, 15-minute podcast episode, designed to help healthcare professionals navigate the diagnostic challenges of late-onset Pompe disease (LOPD).

Accreditation: EBAC

Program Highlights

  • Atypical Phenotype Recognition: Exploration of real-world cases featuring respiratory-only onset, scoliosis-dominant, and presymptomatic LOPD presentations.
  • Beyond Limb-Girdle Weakness: Guidance on recognizing symptoms that fall outside the "classic" presentation, such as axial-dominant weakness and isolated hyper-CKemia.
  • Diagnostic Triggers: Discussion on when and how to initiate specific diagnostic testing, including dried-blood-spot GAA testing and reflex gene sequencing.
  • Multidisciplinary Coordination: Strategies for coordinating early referrals across neurology, respiratory medicine, genetics, and metabolic specialties to shorten the patient's diagnostic journey.
  • Screening and Surveillance: Insights into counseling families on cascade testing and implementing structured long-term surveillance following newborn or family screening results.

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.

Program Schedule: Full Podcast Series

Episode 1 – Recognizing the Unseen: Early and Atypical Presentations of LOPD

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

Please click here to access Module 1.

Episode 2 – Is This Stable? Monitoring and Acting on Subtle Progression (Current Module)

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.

Episode 3 – Shared Decisions in a Changing Landscape: Applying the Triple-S Framework in Practice

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.

Please click here to access Module 3.

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

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 March 2026 – 24 April 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:

  • 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.

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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.

Welcome back to Expert Insights, a global education series by Medal. I'm your host, and today we are tackling a major challenge in late onset Pompey disease monitoring. We are joined again by Professor Pascal Laffey to discuss how we can uncover subclinical progression. Professor, for a long time, the 6 minute walk test and seated force vital capacity have been the gold standards for monitoring Pompeii disease. However, relying solely on these can mask true disease progression. What are the limitations of these conventional tests? Thank you for this important question. Uh, indeed, uh, these two tests, the 6-minute walking test and vital capacity are used since more than 20 years. Um, these tests were used in the first clinical trial, uh, in LOPD. So they are still important because they are used widely all over the world and it can allow to assess and to compare the patients everywhere, but there are some limitations, especially for the 6 minute walking test. Uh, which is a test which has been set up initially for respiratory problems, so it's not a muscle test initially, but it's now used largely. The limit of this test is that there are confounding factors. And one of the most important regarding LOPD is the respiratory involvement, which can also limit the six minute walking test because of the breathless during the test. So it's sometimes difficult to know if the patient has a limitation because of the lowering weakness or because of the respiratory involvement. In addition, this test, which is used to assess the progression of the disease and also the benefit of ERT, is sometimes difficult to interpret. Two examples we can have impression of stability in some patients with stable 6 minute walking test. But knowing that this test is not assessing the actual weakness such as the cantocornea, which can be important mark of the disease, and also the scapular weakness, the limitation of the harm elevation, for example, some patients can have a progression of the actual weakness of the scapular weakness, which is not observed in the 6 minute walking test. So impression of stability in patients who are worsening in these features and conversely we can have an impression of worsening of the disease when the 6 minute poking test. is worsening but not because of the disease. In some patients who have bone problems, lower back pains, for example, some patients have fractures, and after the fracture, of course, they have more limitation for the work. Some patients also have sarcopenia. LOPD is a disease which can occur in quite old patients, and at this age you need to take account the age of the patients. And the last point is the weight gain. In some patients, the weight gain can also increase the walking difficulties, and this is another confounding factor, taking into account when you assess the 6 minute working days. So you can see all these limits that we discussed since many years, many years, but up to date we have no better test to assess these patients regarding the muscle function. And for the vital capacity, this test is more standardized, so it's very reliable, but an important thing to have in mind is that we need to perform this test in the sitting and supine position. Because in Pompeii disease, the diaphragm is very often affected, and the best reflect of the diaphragm movement is to observe a decrease in the sea and supine position of the LVC. So you can have an impression of stability of the respiratory involvement if you, if you only assess the sitting vital capacity. And assessing both sitting supine, you can observe a worsening in the supine position, which is an indication of the start of the diaphragm involvement. Beyond just seated spirometry, how should clinicians integrate tools like diaphragm, ultrasound, and capnography into routine respiratory surveillance to catch hypoventilation early. So to continue with the respiratory respiratory test, we need absolutely again to measure the vital capacity in both sitting and supine condition in all patients, but in addition, it's important to detect symptoms. Forms of respiratory insufficiency which are mainly in neuromuscular patients, the hypercapnia consequences, sleepiness, headaches. And when patients have an advanced stage of respiratory involvement, they can have difficulty to rely in supine positions. Some patients with severe respiratory insufficiency. Not sleep in a supine position and they need to to sit to sleep, and this is a very important awareness of severe respiratory insufficiency. So in order to detect these hypercapnia symptoms, we need to perform a carnography or polysomnography when you have the first symptoms of respiratory insufficiency or significant decrease of the vital capacity. And third, new tools are now available, but still in search of their position because in many cases it's more research topic. These tools can be the diaphragm assessment with ultrasound or MRI of the diaphragm. These new techniques will enable to detect the decrease of the motion of the diaphragm because you can have a dynamic assessment of the diaphragm with ultrasound or MRI, but unfortunately they are not available yet in many centers, and we essentially need to keep in mind that in the future we need to add to the Classical pulmonary tests, vital capacity and also the pressure. I didn't discuss about it. We need also to try to assess the meat and map, maximal respiratory and maximal expiratory pressure which are done in the same time of the pulmonary test. And additional tests probably will help us to improve the care and the follow-up of the respiratory condition of these patients. Professor Lafrey, clinical scores like the 6 minute walk test and motor function measure can remain totally normal over a 10 year follow up. Yet quantitative whole body muscle MRI might tell a different story. Can you explain what MRI might reveal and how we should be using this tool? Yes, it's another important issue. Muscle MRI since a few years now, became a very important tool for the diagnosis and the follow-up of neuromuscular diseases because it allows to detect subclinical or mild abnormalities that can be cannot be observed with manual muscle testing, for example. In Pompeii disease, we know that muscle MRI can also help to diagnose the disease because when you perform a whole body muscle MRI assessing the muscle from head to toe, allows to depict a typical pattern which includes the fat infiltrations we call this the bright tongue sign.