The French Pompe registry. Baseline characteristics of a cohort of 126 patients with adult Pompe disease

doi:10.1016/j.neurol.2013.07.002

Revue Neurologique

Volume 169, Issues 8–9, August–September 2013, Pages 595-602

https://doi.org/10.1016/j.neurol.2013.07.002 Get rights and content

Abstract

Pompe disease is a rare autosomal recessive muscle lysosomal glycogenosis, characterised by limb-girdle muscle weakness and frequent respiratory involvement. The French Pompe registry was created in 2004 with the initial aim of studying the natural history of French patients with adult Pompe disease. Since the marketing in 2006 of enzyme replacement therapy (alglucosidase alfa, Myozyme^®), the French Pompe registry has also been used to prospectively gather the biological and clinical follow-up data of all adult patients currently treated in France. This report describes the main clinical and molecular features, at the time of inclusion in the French registry, of 126 patients followed up in 21 hospital-based neuromuscular or metabolic centres. Sixty-five men and 61 women have been included in the registry. Median age at inclusion was 49 years, and the median age at onset of progressive limb weakness was 35 years. Fifty-five percent of the patients were walking without assistance, 24% were using a stick or a walking frame, and 21% were using a wheelchair. Forty-six percent of the patients needed ventilatory assistance, which was non-invasive in 35% of the cases. When performed, muscle biopsies showed specific features of Pompe disease in less than two-thirds of the cases, confirming the importance of acid alpha-glucosidase enzymatic assessment to establish the diagnosis. Molecular analysis detected the common c.-32-13T > G mutation, in at least one allele, in 90% of patients. The French Pompe registry is so far the largest country-based prospective study of patients with Pompe disease, and further analysis will be performed to study the impact of enzyme replacement therapy on the progression of the disease.

Résumé

La maladie de Pompe est une glycogénose musculaire rare, de transmission autosomique récessive, caractérisée par une faiblesse des ceintures, fréquemment associée à une insuffisance respiratoire. Le registre français de la maladie de Pompe a été créé en 2004, avec pour objectif initial d’étudier l’histoire naturelle des patients atteints de la forme adulte de la maladie de Pompe. Depuis la commercialisation de l’enzymothérapie substitutive par alglucosidase alfa (Myozyme^®) en 2006, le registre français de la maladie de Pompe a aussi permis le recueil de données cliniques et biologiques pour l’ensemble des patients adultes actuellement traités en France. Ce travail décrit les principales caractéristiques cliniques et moléculaires des 126 patients adultes, qui sont suivis dans 21 centres de référence de maladies neuromusculaires ou métaboliques. Soixante-cinq hommes et 61 femmes ont été inclus dans le registre. L’âge médian à l’inclusion était de 49 ans ; l’âge médian du début de la faiblesse musculaire évolutive des ceintures était de 35 ans. Soixante-cinq pour cent des patients pouvaient marcher sans aide, 24 % avaient recours à l’aide d’une canne ou d’un déambulateur, et 21 % avaient recours au fauteuil roulant. Quarante-six pour cent des patients avaient recours à une ventilation assistée, avec une ventilation non invasive dans 35 % des cas. La biopsie musculaire montrait des anomalies caractéristiques de la maladie de Pompe dans moins de deux tiers des cas, lorsqu’elle avait été pratiquée, confirmant ainsi l’importance du dosage enzymatique de l’activité alpha-glucosidase acide pour établir le diagnostic. Les analyses moléculaires ont permis de détecter la présence de la mutation commune c.-32-13T > G sur au moins un des deux allèles chez 90 % des patients. Le registre français de la maladie de Pompe a permis de constituer la plus grande cohorte de patients adultes atteints de cette maladie, et suivis de façon prospective, à l’échelle d’un pays. Des analyses complémentaires sont en cours afin d’étudier les effets de l’enzymothérapie substitutive sur l’évolution de la maladie.

Introduction

Pompe disease, or glycogen storage disease type II, is an autosomal recessive disorder caused by a deficiency in the activity of the lysosomal enzyme acid α-glucosidase (GAA). The clinical spectrum of this disease is extremely broad, varying from a severe infantile form leading to cardiorespiratory failure in the first months of life to adult-onset muscular manifestations (limb-girdle weakness and diaphragmatic paralysis) occurring in the third or fourth decade. Despite the fact that the infantile form was the first to be described (Pompe, 1932), the adult form is the most common one (Byrne et al., 2011, van der Ploeg and Reuser, 2008), representing more than 90% of diagnosed patients in France. Adults with Pompe disease typically present with limb-girdle muscle and axial weakness associated with diaphragmatic involvement (Engel, 1970, Laforêt et al., 2000). Disease progression is variable, but generally occurs over decades, potentially confining some patients to a wheelchair or causing them to require respiratory assistance (Hagemans et al., 2005, Pellegrini et al., 2005). Mean age for wheelchair or respiratory assistance has been estimated at around 50 years (Hagemans et al., 2005), and the major cause of death is respiratory failure.

The pathophysiology of this disease is particularly complex, with major cell disturbances caused by lysosomal glycogen accumulation and increased autophagy. Glycogen accumulation per se is not the only cause of cell dysfunction, and autophagy probably also has a major role in the pathogenic process, with recent works showing an autophagic build-up due to dysfunction of the endocytic and autophagic pathways in the muscle fibres (Raben et al., 2010). Autophagy seems to be more prominent in the juvenile and adult forms than in the infantile form of Pompe disease (Raben et al., 2010).

The prognosis for infantile Pompe disease has been modified considerably by enzyme replacement therapy (ERT), introduced 10 years ago (Kishnani et al., 2007, Kishnani et al., 2009). This treatment (alglucosidase alfa, Myozyme^®), administered intravenously every other week, may improve cardiac and motor function and prolong the survival of affected babies. However at least one third of children do not respond to ERT, and ultimately die or do not reach a normal motor milestone.

In the adult form, results obtained from a double-blind, placebo-controlled study (LOTS) has shown a moderate but significant improvement in walking distance, and a stabilisation in sitting vital capacity after 18 months of treatment with alglucosidase alfa (Myozyme^®) (van der Ploeg et al., 2010). Several open studies on older children and adults, published in recent years, have confirmed that ERT may improve or stabilise limb muscle strength and respiratory function (Strothotte et al., 2010, Bembi et al., 2010, Orlikowski et al., 2011, van Capelle et al., 2008, van Capelle et al., 2010, Angelini et al., 2011, Furusawa et al., 2012, Regnery et al., 2012), but data is still needed in order to better predict the long-term benefit of ERT.

Several guidelines reflecting consensus recommendations for the management and treatment of Pompe disease in various countries have also been published (Bembi et al., 2008, Llerena et al., 2009, Cupler et al., 2012). Their purpose was to define criteria for the diagnosis and management of specific symptoms, pre-treatment assessment, indications and monitoring of ERT. However, there is still a lack of global consensus today concerning the precise clinical criteria for ERT initiation and interruption in adults. Continuation of data gathering across the entire spectrum of Pompe disease, via national or international patient registries, is therefore warranted in order to assess the long-term safety and efficacy of ERT, and to formulate more precise guidelines for treatment. An international Pompe registry developed by Genzyme (www.pomperegistry.com) enrolled patients all over the world, but no data has yet been published on the efficacy and tolerance of treatment for patients with long-term follow-up (Byrne et al., 2011).

In order to improve our knowledge of Pompe disease, a national (French) Pompe registry has been created, with the collaboration of all French reference centres for rare neuromuscular and metabolic diseases. Below are the main clinical, pathological and molecular features of patients with adult-onset Pompe disease who have been included in the French Pompe registry since it was first set up.

Section snippets

Objectives of the French Pompe registry

Since 2004, we have been developing a national registry, with the aim of prospectively gathering the clinical, functional and biological data of all French patients with a diagnosis of Pompe disease confirmed by enzymatic and/or molecular analysis, whether treated or not. This registry has been qualified since 2008 by the French National Committee for Rare Diseases Registries (CNR-MR) supported by Inserm and institut national de veille sanitaire (InVS). Funding for the running of the registry

Demography

One hundred and twenty-six patients were included in the French Pompe registry at the time of data extraction in September 2012 (Fig. 1). Sixty-one patients are women (48%) and 65 are men (52%). Parental consanguinity was noticed in only five patients. Forty-two patients (33%) reported affected siblings. Three siblings of three patients and eight siblings of two patients have been included in the registry so far. Several siblings were not included in the registry because they had died, were not

Muscle biopsy

Ninety-three muscle biopsies were performed in an overall number of 84 patients (nine patients underwent two muscle biopsies). Muscle biopsy was performed in the quadriceps in 49 cases, in the deltoid in 34 cases, and in another muscle in 10 cases. Vacuoles were observed in 63% of the muscle biopsies, and were most often observed in the quadriceps (67%) compared to the deltoid muscle (50%). An increase in PAS staining was observed in 54% of the muscle biopsies. Acid phosphatase activity was

Discussion

Several publications have reported, for nearly 20 years, the description of clinical and molecular features of large series of patients with the adult form of acid alpha-glucosidase deficiency, also named acid maltase deficiency or “late-onset Pompe disease” (Wokke et al., 1995, Laforêt et al., 2000, Hagemans et al., 2005). Worldwide collections of clinical data have also been published recently, based either on self-assessment questionnaires (Güngör et al., 2011), or on data collection from

Disclosure of interest

Pascal Laforêt reports having received honoraria and grants from Sanofi-Genzyme laboratory.

The other authors declare that they have no conflicts of interest concerning this article.

Acknowledgements

We thank Genzyme-Sanofi, the Association Française contre les myopathies (AFM), the Association Francophone des Glycogénoses (AFG), Inserm, InVS (Institut National de Veille Sanitaire) for funding the French Pompe registry.

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Cited by (44)

Description of clinical and genetic features of 122 patients included in the Spanish Pompe registry
2024, Neuromuscular Disorders
Pompe disease is a rare genetic disorder with an estimated prevalence of 1:60.000. The two main phenotypes are Infantile Onset Pompe Disease (IOPD) and Late Onset Pompe Disease (LOPD). There is no published data from Spain regarding the existing number of cases, regional distribution, clinical features or, access and response to the treatment. We created a registry to collect all these data from patients with Pompe in Spain. Here, we report the data of the 122 patients registered including nine IOPD and 113 LOPD patients. There was a high variability in how the diagnosis was obtained and how the follow-up was performed among different centres. Seven IOPD patients were still alive being all treated with enzymatic replacement therapy (ERT) at last visit. Ninety four of the 113 LOPD patients had muscle weakness of which 81 were receiving ERT. We observed a progressive decline in the results of muscle function tests during follow-up. Overall, the Spanish Pompe Registry is a valuable resource for understanding the demographics, patient's journey and clinical characteristics of patients in Spain. Our data supports the development of agreed guidelines to ensure that the care provided to the patients is standardized across the country.
Muscle ultrasound in patients with late-onset Pompe disease identified by newborn screening
2023, Molecular Genetics and Metabolism Reports
Implementation of newborn screening (NBS) in the United States now detects infants with late-onset Pompe disease (LOPD), a lysosomal storage disease characterized by slowly progressive muscle weakness, and detailed clinical evaluation has identified early muscle weakness. Biomarkers may be uninformative; thus, non-invasive imaging is needed to assess early LOPD muscle changes. Muscle ultrasound (US) measuring echointensity (EI) is a non-invasive measure of muscle health.
In this study, we aimed to evaluate if EI can identify characteristic patterns of muscle involvement in LOPD patients identified by NBS.
Prospective, cross-sectional, single time point study.
One-center study.
We examined 20 infants with NBS-identified LOPD (ages 5–20 months). All had standardized physical therapy assessments.
Creatine Kinase (CK) and Urine Hexose Tetrasaccharide (Glc4) were obtained. Muscle US of deltoid, biceps brachii, forearm flexors, thoracic paraspinals, gluteus maximus, quadriceps, tibialis anterior and medial gastrocnemius was performed.
Mean EI was calculated for all involved muscle groups. Quantitative EI Sum Scores were calculated as total EI divided by number of muscle groups assessed. We performed a comprehensive literature review to compare our results to previous LOPD muscle ultrasound studies.
Six of 20 participants had elevated CK and 15 had $\geq$ 50% of the most common concerning kinematic physical findings; with normal urine Glc4 in all except one. Based upon muscle EI, the most affected muscles were quadriceps and medial gastrocnemius, with notable elevated EI in thoracic paraspinals. Biceps brachii was the most frequently affected upper extremity muscle. EI sum scores correlated moderately with increasing CK. Statistically significant positive correlation was found between posterior pelvic tilt in sitting and EI of gluteus maximus. Sonographic pattern of muscle involvement was similar to previous studies assessing older patients with LOPD.
In this study, muscle EI was elevated most often in the quadriceps, tibialis anterior, medial gastrocnemius, thoracic paraspinals, and biceps brachii. Involved muscles generally fit the profile of physical and muscle ultrasound/MRI exam findings in LOPD patients. Muscle ultrasound is recommended for rapid, focused muscle assessment in LOPD, especially those identified via NBS. Future studies should focus on this pattern of ultrasonographic abnormality and changes over time.
The new horizons for treatment of Late-Onset Pompe Disease (LOPD)
2023, Revue Neurologique
Late-onset Pompe disease (LOPD) is a genetic myopathy causing skeletal muscle weakness and severe respiratory impairment, due to the deficiency of the lysosomal enzyme acid alpha-glucosidase (GAA) leading to lysosomal glycogen accumulation along with other complex pathophysiological processes. A major step for treatment of Pompe disease was reached in 2006 with the marketing of alglucosidase alfa, a first enzyme replacement therapy (ERT) that showed a significant motor and respiratory benefit. However, efficacy of alglucosidase alfa is limited in LOPD with a loss of efficacy over time, promoting research on new treatments. Next-generation ERT are new enzymes biochemically modified to increase the uptake of exogenous enzyme by target tissues, and the benefit of two recombinant enzymes (avalglucosidase alfa and cipaglucosidase alfa) has been recently studied in large phase III clinical trials, the latest combined with miglustat. Several innovative therapies, based on GAA gene transfer, antisense oligonucleotides or inhibition of glycogen synthesis with substrate reduction therapy, are currently under study, but are still at an early stage of development. Overall, active research for new treatments raises hope for LOPD patients but challenges remain for the clinician with the need for reliable efficacy assessment tools, long-term registry data, and evidence-based recommendations for the best use of these new molecules recently available or under development.
Early clinical phenotype of late onset Pompe disease: Lessons learned from newborn screening
2022, Molecular Genetics and Metabolism
Citation Excerpt :
Data from other countries with successful NBS programs for Pompe disease, such as Taiwan, have limited application to patients in the US due to the overall lack of the IVS1 variant in non-Caucasian populations. Herein, we report on the phenotypic spectrum that is observed among patients with LOPD under 2 years of age, most of which possess at least one copy of the IVS1 variant, the most common LOPD variant in Caucasians [7,12,16,17,26]. Patients in our cohort with this variant demonstrated a spectrum of clinical manifestations of disease, similar to what has been documented in the literature [9,22].
Thoroughly phenotype children with late-onset Pompe disease (LOPD) diagnosed via newborn screening (NBS) to provide guidance for long-term follow up.
Twenty infants ages 6–21 months with LOPD diagnosed by NBS underwent systematic clinical evaluation at Duke University including cardiac imaging, biomarker testing, physical therapy evaluation, and speech-language pathology evaluation.
Of the 20 infants, four were homozygous for the “late-onset” IVS1 splice site variant c.-32-13 T > G, fourteen were compound heterozygous, and two did not have any copies of this variant. None of the patients had evidence of cardiomyopathy or cardiac rhythm disturbances. Biomarker testing showed an increase in CK, AST, and ALT in 8 patients (40%) and increase in Glc4 in two patients (10%). All patients demonstrated postural and kinematic concerns. Three patients (17%) scored below the 10%ile on the Alberta Infant Motor Scale (AIMS) and 15 patients (83%) scored above the 10%ile. Speech-language pathology assessments were normal in all patients and mild feeding/swallowing abnormalities were noted in nine patients (45%).
Our data show high variability among children with LOPD diagnosed via NBS. Careful physical therapy evaluation is necessary to monitor for subtle musculoskeletal signs that may reflect early muscle involvement. Patients should be monitored closely for symptom progression.
Gene therapy with secreted acid alpha-glucosidase rescues Pompe disease in a novel mouse model with early-onset spinal cord and respiratory defects
2020, EBioMedicine
Citation Excerpt :
The respiratory phenotype is particularly relevant to PD, since currently available Gaa KO mice present very mild respiratory defects [18, 21–27]. Respiratory problems instead manifest in all forms of the disease, representing one of the leading causes of morbidity, in addition to IOPD-specific cardiomyopathy [5, 28–32]. While cardiac problems have been widely reported to be effectively treated by ERT [5], the effective treatment of the PD respiratory phenotype still represents a medical need [14, 32].
Pompe disease (PD) is a neuromuscular disorder caused by deficiency of acidalpha-glucosidase (GAA), leading to motor and respiratory dysfunctions. Available Gaa knock-out (KO) mouse models do not accurately mimic PD, particularly its highly impaired respiratory phenotype.
Here we developed a new mouse model of PD crossing Gaa KO^B6;129 with DBA2/J mice. We subsequently treated Gaa KO^DBA2/J mice with adeno-associated virus (AAV) vectors expressing a secretable form of GAA (secGAA).
Male Gaa KO^DBA2/J mice present most of the key features of the human disease, including early lethality, severe respiratory impairment, cardiac hypertrophy and muscle weakness. Transcriptome analyses of Gaa KO^DBA2/J, compared to the parental Gaa KO^B6;129 mice, revealed a profoundly impaired gene signature in the spinal cord and a similarly deregulated gene expression in skeletal muscle. Muscle and spinal cord transcriptome changes, biochemical defects, respiratory and muscle function in the Gaa KO^DBA2/J model were significantly improved upon gene therapy with AAV vectors expressing secGAA.
These data show that the genetic background impacts on the severity of respiratory function and neuroglial spinal cord defects in the Gaa KO mouse model of PD. Our findings have implications for PD prognosis and treatment, show novel molecular pathophysiology mechanisms of the disease and provide a unique model to study PD respiratory defects, which majorly affect patients.
This work was supported by Genethon, the French Muscular Dystrophy Association (AFM), the European Commission (grant nos. 667751, 617432, and 797144), and Spark Therapeutics.
Spanish Pompe registry: Baseline characteristics of first 49 patients with adult onset of Pompe disease
2020, Medicina Clinica
La enfermedad de Pompe es una enfermedad rara con herencia autosómica recesiva por un déficit de maltasa ácida. Este déficit produce un acúmulo de glucógeno en los tejidos. Desde una perspectiva clínica, se caracteriza principalmente por una debilidad de cinturas y una afectación de la musculatura respiratoria. En 2013 se creó el registro español de enfermedad de Pompe. El objetivo de este artículo es analizar las características de los primeros 49 pacientes y divulgar la existencia de este registro dentro de la comunidad médica.
Se realizó un estudio observacional en el que se analizaron las variables de los pacientes incluidos en el registro español de enfermedad de Pompe desde mayo de 2013 hasta octubre de 2018.
Los 49 pacientes proceden de 7 hospitales españoles. Veintiséis pacientes son mujeres y 23, hombres. La edad media en el momento del análisis fue de 47,2 años. Diez pacientes estaban asintomáticos. La edad media de inicio de los síntomas fue 29 años; la debilidad de cintura pélvica fue el síntoma inicial más frecuente. El 49% de los pacientes tenían afectación respiratoria, el 70,8% necesitaba ventilación mecánica no invasiva. El análisis genético encontró la mutación IVS1−13T>G en el 85,3% de los pacientes. Todos los pacientes sintomáticos recibían tratamiento con ERT.
Este registro permite conocer las características clínico-genéticas de pacientes adultos con enfermedad de Pompe en España, además de ser la base de futuros estudios de historia natural y del impacto de la ERT en el curso de la enfermedad.
Pompe disease is a rare autosomal recessive disorder produced by a deficiency of acid maltase. This deficit produces an accumulation of glycogen in tissues. Clinically it is mainly characterized by limb girdle and respiratory muscle weakness. In 2013, we developed the Spanish Pompe Registry. The objective of this article was to analyse the characteristics of the first 49 patients and disclose the existence of this registry within the medical community.
An observational retrospective study was undertaken. We analysed the 49 patients included in the Spanish Registry of Pompe Disease from May 2013 to October 2018.
Patients were visited at 7 different Spanish hospitals. Twenty-six patients were women and 23 were men. The average age at the time of the analysis was 47.2 years. Ten patients were asymptomatic. The mean age of onset of symptoms was 29, and low limb girdle weakness was the most frequent initial symptom. Of the patients, 49% had respiratory involvement, and 70.8% of them required non-invasive mechanical ventilation. The most common mutation found was IVS1−13T>G in 85.3% of the patients. All symptomatic patients received treatment with ERT.
This registry allows us to know the clinical and genetic characteristics of adult patients with Pompe disease in Spain. Moreover, it can be the basis for future studies of natural history to understand the impact of ERT in the course of the disease.

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¹: The French Pompe Study Group : Dr A.-L. Bedat-Millet (Centre de compétence de pathologie neuromusculaire, CHU Charles Nicolle, Rouen), Dr A. Behin, Pr B. Eymard, Dr T. Stojkovic, A. Canal, Dr V. Decostre, G. Ollivier, Dr P. Carlier, Pr R.-Y. Carlier, Dr C. Wary (Centre de référence de pathologie neuromusculaire Paris-Est, institut de Myologie, groupe hospitalier Pitié-Salpêtrière, Paris), Pr F. Boyer (Service de médecine physique et de réadaptation, CHU de Reims), Dr C. Caillaud (Laboratoire de biochimie génétique, faculté de médecine Cochin, Paris), Dr Y. Castaing (Service de réanimation, CHU de Bordeaux, Bordeaux), Dr P. Cintas (Centre SLA et maladies neuromusculaires, CHU de Toulouse-Rangueil, Toulouse, France), Pr I. Durieu (Service de médecine interne, centre hospitalier Lyon Sud, Pierre-Bénit), Dr A. Echaniz-Laguna (Département de neurologie, hôpitaux universitaires de Strasbourg, hôpital de Hautepierre, Strasbourg) , Dr L. Feasson, Dr A. Furby (Centre de référence des maladies neuromusculaires rares Rhône-Alpes, Hôpital Nord, CHU de Saint-Étienne), Dr X. Ferrer, Dr. G .Solé (Centre de référence des maladies neuromusculaires, CHU de Bordeaux-GH Sud - hôpital Haut-Lévêque, Pessac), Dr R. Froissart, Dr M. Piraud (Centre de biologie et pathologie Est, hospices civils de Lyon, Bron), Dr N. Guffon-Fouilhoux (Unité des maladies métaboliques, département de pédiatrie, CHU de Lyon-GH Est - hôpital Femme-Mère-Enfant, Bron), Dr H. Journel (Génétique médicale, centre hospitalier Bretagne-Atlantique, Vannes), Dr P. Kaminsky (Centre de référence des maladies héréditaires du métabolisme de Nancy, centre hospitalier universitaire de Nancy, hôpitaux de Brabois, Vandœuvre), Pr P Labauge (Département de Neurologie, CHU de Montpellier, Montpellier), Dr A. Levy (Service de pneumologie, centre hospitalier Jacques-Cœur, Bourges), Dr S. Louis (Service de neurologie, hôpital Central, Nancy), Dr A. Magot (Centre de référence des maladies neuromusculaires Nantes-Angers, Hôtel Dieu, Nantes), Dr M.-C. Minot-Myhié (service neurologie, CHU de Rennes, Rennes), Dr A. Nadaj-Pakleza, Anne-Catherine Aubé-Nathier (Centre de référence des maladies neuromusculaires Nantes/Angers, Service de neurologie, CHU d’Angers, Angers), Dr N. Pellegrini (Service de soins de suite et de réadaptation neurologie, GHI du Vexin, Aincourt), Dr P. Petiot (Centre de référence maladies neuromusculaires de la région Rhône-Alpes, hôpital de la Croix-Rousse, Lyon), Dr J. Praline (Centre de compétences maladies neuromusculaires, CHRU de Tours, Tours), Dr H. Prigent (Service de physiologie et explorations fonctionnelles, hôpital Raymond Poincaré, Garches), Dr D. Renard (CHU de Nîmes, hôpital Caremeau, Nîmes), Dr V. Tiffreau (Centre de référence des maladies neuromusculaires, CHRU de Lille, Lille), Dr D. Vincent (Service de neurologie, groupe hospitalier La Rochelle – Ré – Aunis, La Rochelle).

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Muscular pathologyThe French Pompe registry. Baseline characteristics of a cohort of 126 patients with adult Pompe diseaseRegistre Français de la maladie de Pompe. Caractérisation d’une cohorte de 126 patients adultes

Abstract

Résumé

Introduction

Section snippets

Objectives of the French Pompe registry

Demography

Muscle biopsy

Discussion

Disclosure of interest

Acknowledgements

Rev Neurol (Paris)

Neuromuscul Disord

Mol Genet Metab

Neuromuscul Disord

J Pediatr

Neuromuscul Disord

Mol Genet Metab

Neuromuscular disorder

Neuromuscul Disord

Lancet

Observational clinical study in juvenile-adult glycogenosis type 2 patients undergoing enzyme replacement therapy for up to 4 years

J Neurol

Management and treatment of glycogenosis type II

Neurology

Long-term observational, non-randomized study of enzyme replacement therapy in late-onset glycogenosis type II

J Inherit Metab Dis

Muscular pathology
The French Pompe registry. Baseline characteristics of a cohort of 126 patients with adult Pompe diseaseRegistre Français de la maladie de Pompe. Caractérisation d’une cohorte de 126 patients adultes