Characteristics of Patients With Late-Onset Pompe Disease in France: Insights From the French Pompe Registry in 2022.

Neurology

From the Neurology Department (C.L., N.T., P.L.), Raymond Poincaré University Hospital, Garches, APHP; Nord-Est-Ile-de-France Neuromuscular Reference Center (C.L., C.T., A.B., A.N.-P., M.M., H.P., N.T., A.A., P.L.), FHU PHENIX; Biostatistics Unit (DRCI) (M.D.A.), Clermont-Ferrand University Hospital; Service d'Electroneuromyographie et Pathologies Neuromusculaires (F.B.), Hospices Civils de Lyon; Inserm (C.T.), Lille University Hospital Center, U1172, Lille Neuroscience & Cognition, University of Lille; Centre de Référence des Maladies Neuromusculaires (E.S.-C., S.A.), Hôpital Timone Adultes, Assistance Publique Hôpitaux de Marseille; PACA Réunion Rhône Alpes Reference Center for Neuromuscular Diseases (E.S.-C., S.A.), FILNEMUS; Department of Neurology (E.L.), Grenoble University Hospital; APHP (A.B., A.A.), Service de Neuromyologie, Institut de Myologie, GH Pitié Salpêtrière, Paris; Neuromuscular Reference Center (G.S.), Bordeaux University Hospital (Pellegrin), University of Bordeaux; Neurology Department (J.-B.N.), Neuromuscular Center, CHRU Cavale Blanche, Brest; Peripheral Nervous System and Muscle Department (S.S.), Université Cote d'Azur, CHU de Nice; Centre de Référence des Maladies Neuromusculaires AOC (A.M.), CHU Hôtel Dieu, Nantes; Department of Neurology (A.N.-P.), University Hospital, Strasbourg; Centre de Référence des Maladies Neuromusculaires Rares Rhône-Alpes (A.L.), Hôpital Nord, CHU de Saint-Etienne; ALS Center (S.B.), Francois-Rabelais University, Tours, Centre-Val de Loire; Neuromuscular Reference Center (M.S.), Department of Neurology, University Hospital, Angers; Département de Neurologie (P.C.), Hôpital Purpan, CHU Toulouse; Department of Neurology (D.R.), CHU Nîmes, University of Montpellier, Nîmes; Department of Neurology (M.M.), Nancy University Hospital; Neuromuscular Reference Center (A.-L.B.-M.), Rouen University Hospital; Service de Physiologie et Explorations Fonctionnelles (H.P.), GH Paris Ile de France Ouest, Site Raymond Poincaré, APHP, Garches; U1179 INSERM (H.P., P.L.), Université Versailles Saint Quentin en Yvelines, Paris-Saclay; and Centre Hospitalo-Universitaire de Montpellier (D.H.), Hôpital Arnaud-de-Villeneuve, France.

Published: August 2023

AI Article Synopsis

  • The French Pompe Disease Registry was established in 2004 to track the progress of the disease in patients and evaluate the long-term effects of enzyme replacement therapy (ERT) with alglucosidase-alfa.
  • An update on 210 patients from the registry reveals that the median age of participants was almost 49, with many initially presenting symptoms like muscle weakness and respiratory issues, affecting their mobility significantly.
  • The findings indicate that awareness among doctors has improved, leading to earlier diagnoses and a decrease in the severity of cases at the time of inclusion, highlighting the registry's role in understanding and managing Pompe disease effectively.

Article Abstract

Background And Objectives: The French Pompe disease registry was created in 2004 for study of the natural course of the disease in patients. It rapidly became a major tool for assessing the long-term efficacy of enzyme replacement therapy (ERT) after the market release of alglucosidase-alfa.

Methods: Approximately 10 years after publication of the baseline characteristics of the 126 initial patients of the French Late-Onset Pompe Disease registry, we provide here an update of the clinical and biological features of patients included in this registry.

Results: We describe 210 patients followed at 31 hospital-based French neuromuscular or metabolic centers. The median age at inclusion was 48.67 ± 14.91 years. The first symptom was progressive lower limb muscle weakness, either isolated (50%) or associated with respiratory symptoms (18%), at a median age of 38 ± 14.9 years. At inclusion, 64% of the patients were able to walk independently and 14% needed a wheelchair. Positive associations were found between motor function measure, manual motor test, and 6-minute walk test (6MWT) results, and these parameters were inversely associated with the time taken to sit up from a lying position at inclusion. Seventy-two patients had been followed for at least 10 years in the registry. Thirty-three patients remained untreated a median of 12 years after symptom onset. The standard ERT dose was administered for 177 patients.

Discussion: This update confirms previous findings for the adult population included in the French Pompe disease registry, but with a lower clinical severity at inclusion, suggesting that this rare disease is now diagnosed earlier; thanks to greater awareness among physicians. The 6MWT remains an important method for assessing motor performance and walking ability. The French Pompe disease registry provides an exhaustive, nationwide overview of Pompe disease and can be used to assess individual and global responses to future treatments.

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Source
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC10501092PMC
http://dx.doi.org/10.1212/WNL.0000000000207547DOI Listing

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