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Advancing Pompe Care: A Global Education Series | Episode 3 – Shared Decisions in a Changing Landscape: Applying the Triple-S Framework in Practice

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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 3 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

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.

Please click here to access Module 2.

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

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.

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:

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.

Welcome to the final episode of Expert Insights by metal. Today we are tackling therapy and how to apply the new European TripleS recommendations start, switch, and stop, and how to interpret comparative effectiveness data for enzyme replacement therapies, ERT. Joining me to navigate this landscape is Professor Pascal Laffey. Professor, let's talk about starting therapy. When applying the Epoch tripleS framework, what clinical markers might justify starting patient on ERT? So, starting therapy in OPD is always, always a delicate issue. We know that we have a therapy based on enzyme replacement therapy, and there is a discussion about the right moment to start therapy. Uh, for that, um, there is a consortium, uh, uh, European consortium. We discussed recently the actualization of this recommendation, um, and it is called the Triple S for start, switch and stop therapy. This recommendation of Epoch has been published in 2024. And a quite simple and precise idea have been decided. First, we need to start only when the patients are symptomatic. With two main symptoms, the muscle symptoms and the respiratory symptoms, regarding the muscle symptoms, the patients need to have a muscle weakness which is detected with muscle testing. And regarding the respiratory involvement, they need to have signs of respiratory insufficiency detected on the pulmonary function test, so they not always have symptoms of hypercapnia, which are in general late in the evolution of the respiratory involvement. So when the AVC starts to decline. It's an obvious thing of respiratory involvement and mainly diaphragm involvement, knowing that we need to assess also the supine vital capacity. Something which has been added to the recommendation is this epoch recommendation is the fact that MRI can also show abnormal fatty infiltration of the muscles. So in patients with a subtle muscle weakness, the muscle MRI can add to the decision of treatment when we observe in at least 2 muscles more than 20% of fat infiltrations. These 20% of fat infiltrations are in general clinically observed. We don't have dedicated software to assess, to quantify the muscle infiltration, but there is a gradation with the mercury scales which can allow us to semi-quantify these infiltrations. So to summarize these criteria for starting the treatment, we have the clinical weakness, the muscle weakness, the vital capacity decrease, and the muscle fat infiltration that we can add to this discussion. Let's look at the long term efficacy. Why do some patients escape the benefits of standard ERT, and how does the TripleS framework guide us on switching? The long term efficacy of treatment is very important. Things to know when we take the decision of treating and more importantly to switch from a treatment to another because we have now 3 ERTs available and the discussion of switching can be done in some patients. Why some patients escape to treatment, we don't know exactly. The answer of this important question, but we know that some patients escape the treatment. Most of the patients benefit of the treatment in the 1st 3 to 5 years after starting of ERT. And several studies have shown that after this period, 3 to 5 years, most of the patients have a decline either in the 6 minute walk test or in the vital capacity. A publication about 2 patients followed more than 10 years showed that after this period of 10 years, approximately half of the patients do not respond more to 6 minute walking tests or pulmonary function tests, and conversely, 50% of the patients still have a response stabilization either with 6 minute walking tests or vital capacity. So clearly there is a decline for many patients explaining why we need to discuss the switch or in some patients stop the ERT. When a patient shows clinical decline on legacy ERT, how do you evaluate comparative evidence and real world data to discuss transitioning to next generation therapies like enzyme stabilizer combination while keeping expectations realistic? So to answer to this question, I would like to follow up your previous question. So the discussion of switching your treatment clearly should be considered in patients who are declining or who have no more stabilization on initial ERT. After at least one year of treatment, it is important also to have in mind that the benefit of this treatment is quite slow. So to decide that the patient does not respond, we need to have enough time, so at least one year of treatment. So it is in general in this period. That we discuss to switch the treatment and after switching from a treatment to another, it's also recommended to follow carefully this patient and to monitor again the 6 minute walking test and the vital capacity at least every 3 or 6 months after the switch of the treatment. And after that, the recommendations are to monitor the patient every year. And how can we compare the different ERT knowing that we don't have available studies comparing in a clinical trial one ERT to another. It's now very important to gather and to collect data in the real life of the patients who are treated in the various ERT. And for this purpose, registries are very important clues in the future. The new ERTs are available since a few years only. We needed, as we discussed before, at least 10 years of follow-up of the patients to assess the overall efficacy of the first ERT. So probably we will need many more years now to be able to compare all the ERTs together in the registries. And to be able to know if one of another is better, and another thing to have in mind is that some patients are. Better responders than another, so it is possible that some patients respond better to one ERT and another to another ERT. So many questions are not yet solved, and this needs to emphasize the importance to carefully follow these patients in the neuromuscular clinics and to collect the data in registries. Professor Laffey, the final S is stop. How do we respect patient autonomy in late stage or highly reluctant scenarios, and when do guidelines suggest discontinuing therapy? Stopping ERT is