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Advancing Pompe Care: Module 3 – Applying Triple-S to Treatment Decisions

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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 3 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 (Current Module)

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

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:

Recognise the heterogeneous, progressive and multi-systemic nature of late-onset Pompe disease (LOPD) and embed multidisciplinary diagnostic pathways that prevent irreversible muscle loss.
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.
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. So today we have a recommendation from the European Pompeii Consortium EPOC. This guideline has been published and some relatively simple and importantly regulable biomarkers are now used and recommended. These are for the muscle function, the 6 minute walking test, the time test. And optional but important to perform the MRC testing and the muscle MRI when this technique is available. Regarding the pulmonary function assessment, mandatory assessments are functional vital capacity in sitting and supine position. Optional, the MEP and the map, and when the patients are ventilated, non-invasive and invasive ventilation should be recorded recorded with the number of hours of ventilation. Another recommendations are the outcomes of air scales and fatigue severity scales with, if possible, also the short form for pain inventory. Now, let's go to the first poll. In adult patients with confirmed LOPD, minimal or no motor symptoms, and preserved vital capacity in sitting position, which additional assessment is most important to guide the decision on starting ERT? A echocardiography to detect early cardiomyopathy. B. serum CK level to quantify muscle damage. C. supine vital capacity and diaphragm focused respiratory assessment. D. routine forearm exercise test with lactate measurement. And E, dual energy X-ray absorpsometry DEXA to assess bone mineral dyetensity. The good response is C supine vital capacity and diaphragm focused respiratory assessment. Now we go to clinical case. first clinical case. Is a 54-year-old woman who presented high transaminase levels since the age of 34, and she was referred to a n muscular center at the age of 43 years following the findings of high CK levels and uh for sure the high transaminase levels were due to uh pre-existing ICK levels. When she was referred, she complained of muscle fatigueability during exercise, but neither pain nor aches, and she didn't presented permanent muscle weakness. Importantly, she had similar findings in her brother, but uh no diagnostic was performed in the brother. Neurological examination was normal. At the age of 44, she had an additional test with a forearm exercise test looking for metabolic myopathy, and this test was normal with a normal lactate increase. Echocardiography was normal, and a diagnosis of Pompey disease was evoked uh with a muscle biopsy showing small vacuoles without important increased glycogen content. The diagnosis was confirmed with a decreased acid alpha glucosidase activity in leukocytes and the discovery of two pathogenic variants in the GAA genes with the common mutations C3213T2G, which is found in the majority of LOPD patients. She also had a normal pulmonary function test and a, a quite normal 6 minute walking test emphasizing uh um uh pre-symptomatic disorder in these patients. Um, as we have shown before, um, uh, a careful assessment of such a patients in the long term is very important. Uh, you can see here data from the French Pompeii registry which collects the data from the French patients, uh, followed in the different neuromuscular clinics. On the left you can observe the 6 minute walking test slopes over 10 years showing a very mild decrease, but that remains in the normal range. And on the right result of motor function measure scales, which is a scale assessing different dimensions of muscle functions. Which is a widespread scale used in France and you can see here that the results are normal with 100% for all the dimensions. So regarding the muscle function, the, the results are normal in these patients, but importantly, assessing the respiratory functions. We can observe a decrease, especially in the supine vital capacity assessments on the right graph. By contrast, the sitting vital capacity remains in the normal range, and this emphasize the importance of assessing sleeping and supine vital capacity in all the patients to discover. Um, uh, impairment of the diaphragm, uh, function, which is again very frequently involved in LOPD patients. Another important tool which is now used in many centers is MRI assessments. You can see here some pictures of MRI on the left, the tongue involvement with the bright tongue aspect. Which is frequent in Pompeii disease and on the right part of the slide involvement of scapular girdle muscles infraspinatus and serratus anteriors at the level of lumbar muscles, paraspinal muscles, there is no significant involvement at this stage in these patients. And importantly, we observe across a few years of regular MRI assessment the presence of high signal in some muscles of the posterior part of the site, especially the semi membranous ear. Showing signs of activity and despite normal muscle strength, MRI shows a progression of the disease quite slow but present of the progression in these patients. So at this with this data, the question was to treat or not to treat the patient. Data collected that I showed you showed the progression of the skeletal muscle and diaphragm weakness, but the patient was reluctant to ERT for several years because of the absence of physical symptoms, and in addition, she didn't want to go regularly to the hospital every. Other weeks to perform the infusions. However, at the age of 54 years, she felt a progression of the muscle fatigue ability with a mild gluteal weakness, and a decision to start a treatment in this patient was made with a discussion between patients and the physicians. And this case emphasized the importance of a careful monitoring of all the parameters, uh work assessment, pulmonary function test, and uh muscle MRI. This case will be probably most frequent in the future because pre-symptomatic patients with Pompeii disease are now detected more easily and more frequently thanks to the systematic bright blood test, the screening of patients. In several conditions and especially patients with isolated IC ya, of note approximately 10% of the patients in the French Pompeii registry have normal CK value, so we can also be in difficulties to detect some of the patients. A program of newborn screening are now developed in some countries such as USA and Taiwan.