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Advancing Pompe Care: Module 1 – Diagnosing Diverse LOPD Phenotypes

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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 1 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 (Current Module)

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

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

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.

In this talk, uh, we'll be talking about diagnosing, uh, Pompey disease. So the learning objectives is to recognize how progressive and multisystemic, uh, late onset, uh, Pompey disease is and how we go about diagnosing them. So here's the first uh polling question. Which of the following clinical features is the most characteristic of late-onset Palmer disease, which we will also call, call LOPD uh as we go. The right answer to this is, uh, is, uh, the proximal weakness and respiratory insufficiency. The spectrum of, of the phenotype in Pompe disease is quite variable. Uh, there's a very severe form, an infantile onset form, where, uh, uh, babies present typically with hypertonia at birth, and without treatment, they usually, uh, have a fatal outcome within a year or two. This is associated with mutations in the alpha glukozytase gene with leaving no residual enzyme left. A much more common form of, of Pomper disease though is late onset from the disease. It's milder, presents after age 1 year of age, usually later, slowly progressive, and typically there you will find milder mutations leaving some residual activity of alpha gleukoyase between 1 and 30%, typically around 20%. The typical symptoms in, in LOPD are the ones here in orange, so it's a neuromuscular uh presentation with a proximal uh muscle weakness and uh respiratory insufficiency because of uh weakness of respiratory muscles, most in foremost the diaphragm. Uh, but you can also have less typical symptoms as shown here in pink cognitive symptoms or vascular symptoms. Typically, if you have vascular symptoms in the CNS, it would be, uh, aneurysms. Heart symptoms are very common in the infantile form, but very rare in, in LOPD. So, uh, as I said, proximal weakness is really, uh, the hallmark of the presentation in LOPD. Uh, far most patients present like this, but it can also present as a congenital myopathy with a rigid spine, and the picture here on the right shows you this. Milder patients, before they get proximal weakness, can have unexplained hyperceaemia, so you should also be aware of this, and some patients actually have a debut with respiratory insufficiency. That is not to say that patients only have respiratory insufficiency. These patients will, in fact, always on testing, also have uh proximal weakness, but it can be uh the presenting symptom. So there is really a disproportionate respiratory insufficiency in pulmonary disease compared to so many other neuromuscular diseases. So this site, as you see here, this picture of a patient walking on invasive ventilation while still being able to walk is really very, very unusual for neuromuscular diseases and should prompt you to think about Pompey disease. So here's another polling question, which of the following neuromuscular disorders is most likely to be confused with LOPD due to a similar pattern of proximal muscle weakness? The right answer is also shown here, uh, on this list of muscle diseases with proximal weakness, and it is myotonic dystrophy type 2, amongst the choices you had just before. But really, the very typical uh group of patients that it can be confused with is the limb girdle muscular dystrophies, which you, where we can also include beggar muscular dystrophy, which in essence, is just a limb girdle muscular dystrophy that has its own name. But a number of other muscle diseases can also present with uh proximal uh weakness. So what are the red flags, uh, when you have a patient with a limgirdle weakness, uh, that should make you think of uh late onset pompe disease. Well, one thing is that the CK level is typically only moderately elevated, so rarely about 1000, which is something you see very often in muscular dystrophies like limbinal muscular dystrophy. Another thing is the muscle biopsy, if you perform such a one. in the limgirdle muscular dystrophies, you would see the picture here on top with dystrophic changes and a disorganized architecture of the muscle, where in, whereas in Pompey disease, you see more normal findings, and if you see anything, you do see a vacular myopathy as the fiber you see here in the middle, in the lower picture. And then as we have touched upon earlier, a very early onset of respiratory insufficiency is also typical of a Pompey disease and not lingoidal muscular dystrophy. So here's the case. Um, a 42-year-old woman who has previously been healthy, she develops gradual onset of fatigue and exertional dyspnea over 23 years, and experiences increasing difficulty climbing stairs and rising from a chair, and reports morning headaches and non-refreshing sleep. This is um something that should make you think about, uh, uh, nocturnal hyperventilation. So on findings, you see, find a proximal lower limb weakness, scapular winging, lumbar lodosis, and the CK is moderately elevated, and pulmonary testing, testing shows that, uh, that the uh functional vital capacity is 62% of predicted, and it drops when the patient is lying down, suggestive of diaphragmatic uh uh weakness. EMT is myopathic. So actually, all the red flags we just talked about before are ticked here and uh when you look at these findings. The early diagnostic workup of this patient was that she went to a neuromuscular clinic. There was suspicion of limgual muscular dystrophy, which is quite fair when you just look at the patient. Uh, a muscle biopsy was performed. It showed mild vacular changes and test positive bacterial, but not very prominent. So, uh, suggests, suggesting glycogen accumulation. And the pathology report said non-specific myopathy does not exclude metabolic myopathy. And the patient was then labeled as unclassified limbal muscular dystrophy, but the symptoms continued to progress, and the respiratory involvement became dis disproportionate to the limb weakness, uh which then raised a suspicion of metabolic myopathy such as uh LOPD. So again, here, uh, a polling question. So in a patients presenting with slowly progressive proximal weakness, moderately elevated CK, early or disproportionate respiratory involvement, and a non-diagnostic muscle biopsy leading to a label of unclassified ling girdle, which next diagnostic step is most appropriate to confirm or exclude late onset Pompi disease? Well, either you can go directly to test for Pompey disease with a bright botspot or a gene test for Pompey disease. I would say if you are in a little bit of in doubt whether this could be another proximal weakness patient, then uh it would be more appropriate to go for next generation sequencing where you will capture some of the other uh differential diagnosis. And this slide just shows you that muscle biopsy, which used to be the primary uh diagnostic tool uh for pulmonary disease, is actually not very good in LOPD. You miss quite many of the patients, and here we see 4 patients. The top 2 patients, there's novacular changes at all. You would miss the diagnosis just on this biopsy. And then at the bottom here, you see 2 cases where there's quite typical vacular findings in these patients. So don't do a muscle biopsy as a primary diagnostic test in LOPD if you have the suspicion. Uh, diagnostically, I would not suggest to use, uh, MRI, um, as a diagnostic test, although it can be quite sensitive.