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Advancing Pompe Care: A Global Education Series | Episode 1 – Recognizing the Unseen: Early and Atypical Presentations of LOPD

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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 1 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 (Current Module)

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

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

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:

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

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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 Expert Insights, a global education podcast series by MAO. MEDO exists to make medical education radically accessible to every healthcare professional everywhere. Today we're focusing on late onset Pompey disease or LOPD, a rare, progressive, and multi-systemic condition. Many clinicians still anchor on classic limb girdle weakness as the chief trigger for Pompey testing, leaving many atypical cases undiagnosed. To help us recognize the unseen phenotypes of LOPD, I'm joined by Professor Pascal Lafrey, a renowned expert in neuromuscular and metabolic muscle disease. Welcome, Professor. Thank you for this kind invitation. So it's a pleasure for me to answer to your question about LOPD. Professor Lafrey, traditionally we are taught to look for proximal muscle weakness when suspecting Pompey disease. However, there is a risk we might be missing patients because they present differently. Can you describe the spectrum of LOPD and what nonclassical red flags we should be watching out for? Yes, so this is a very important point because we need to be able to diagnose most of the patients with LOPD regarding the fact that we have available treatment for this patient and probably we need to start quite early to treat the patients. So beyond the classical manifestations which are proximal muscle weakness, and limb girdle muscle weakness. Um, it's important to have in mind that some patients can present with different manifestations. Uh, for the beginning, it can be only a high CK level, for example. So in the pre-symptomatic case, a patient can have isolated CK levels. And Pompeii disease should be one of the diagnosed in presence of patients with ICK levels. Besides that, the muscle weakness can be also axial. The axial weakness can present with a bent spine or cantocornea. It can be part of the general weakness, but also quite predominant. Uh, and, um, very exceptionally, some patients have a rigid spine, uh, with, um, uh, symptoms which can mimic uh congenital myopathy because rigid spines is a feature of congenital myopathy. And also it's not so rare to have a scapular weakness in LOPD patients. This scapular weakness can be asymmetrical, mimicking fascial scapular neral dystrophy, but in Pompey disease, you don't have a facial weakness, so it's a differential diagnosis also of FSHD. Another very important feature are the respiratory symptoms. We know that in Pompeii disease, an important hallmark is the presence of respiratory insufficiency, which is frequently associated with muscle weakness. But the respiratory insufficiency can be also a predominant symptom. Some patients can present with inaugural respiratory insufficiency. So in patients with important respiratory insufficiency, we need to think also about LOPD. And in all these conditions, it's important to have in mind that the dried blood test is able to detect the enzyme deficiency and in all these conditions, the checkup of the patients needs to uncomprise DBS for alpha glycosida, I say. To ground this in a clinical practice, let's look at a case of a 42-year-old woman who presented with gradual fatigue, difficulty climbing stairs, and a moderately elevated CQ of 650 international units per liter. She had a drop in her supine force vital capacity. She underwent a muscle biopsy which was reported as a non-specific myopathy, leading to an unclassified LGMD label. Why is relying on a muscle biopsy a potential pitfall here, and what diagnostic pathway is actually recommended? So the muscle biopsy was for many muscle disorders the main diagnostic clue in the past, I would say, and it's important to know that in Pompeii disease the major features in the muscle biopsy are the presence of vacuoles, high glycogen content that can be observed in the PS staining. And there is another staining allowing to observe the lysosomal disturbance which is the acid phosphatase staining. So typically you can observe abnormalities in the muscle biopsy, but In LOPD, these hallmarks are not always present, and overall, approximately 1/3 of the LOPD patients can have a normal muscle biopsy, probably because the lesions are variable among the muscles, and when you perform a muscle biopsy, it's frequently in the deltoid muscle, which is less affected. So clearly today the muscle biopsy is not the first exam. Uh, uh, and currently the recommendation for diagnosis of Pompei disease is to start with enzyme assessment with a dried blood tests, which can be done in dot test or in lymphocytes. And secondary, uh, now we perform NGS. The gene of Pompey disease, GAA gene, is included in some panels, gen panels, looking for limb giridal muscle dystrophy because Pompey disease can be also classified among limb gal dystrophy. So to summarize, the muscle biopsy can be interesting, but it's not the first step, and we need to start with a dried blood test and secondary to the genetic testing to diagnose Pompey disease in our times. We are also seeing patients diagnosed much earlier now. How is the landscape of pre-symptomatic LOPD changing and what is our responsibility regarding newborn screening and genetic counseling? Yes, so to, to continue with your, your previous questions, um, thanks to large availability of DBS screening, we can now diagnose most easily and more frequently patients at a pre-symptomatic stage. So again, the patient with an isolated ICK level, which is not a so rare condition in Adults because sometimes these patients are referred because a general practitioner diagnosed a high CK level, so this is one of the conditions to detect. But now in some countries there is a development of neonatal screening, newborn screening for several lysosomal storage disorders, including Pompeii disease, for example, in the US and Taiwan. There are possibilities to perform neonatal screening. This is not the case in some European countries. And doing this, we can detect LOPD patients very early because these patients can sometimes develop the disease at a very old age. It can be diagnosed. Sometimes in 60s, 70s years. So this is a tricky question because this patient that will be diagnosed very early will be followed for all their life very carefully in neuropediatric centers and after that in adult centers. Um, but with the possibility to start the treatment, uh, at the, probably at a good moment, uh, knowing that when the patients start to decline, it will be time to discuss, uh, to treat them. When a patient is flagged by a newborn or family screening with.