Publications by authors named "Nadjib Taouagh"
Article Synopsis
- Late onset Pompe disease (LOPD) is a rare disorder that affects muscle function due to a lack of a specific enzyme, leading to issues such as macroglossia (enlarged tongue) and swallowing difficulties in patients.
- A study of 100 adult LOPD patients revealed that 32% experienced some level of swallowing difficulties, with 20% dealing with daily dysphagia and 18% facing aspiration risks, yet only a small number were receiving help from speech therapists.
- The findings suggest that common swallowing problems significantly affect patients' daily lives, highlighting the need for healthcare professionals to be more aware of these symptoms and to provide coordinated care involving specialists like speech therapists and dietitians.
Article Synopsis
- Late-onset Pompe disease (LOPD) is a progressive muscle disorder caused by a deficiency in an enzyme, and switching to the drug avalglucosidase alfa has shown promise for patients not responding to the standard treatment, alglucosidase alfa.
- A study analyzing data from the French Pompe registry found that after switching medications, patients exhibited stabilization in motor function, specifically in the Six-Minute Walk Test, while respiratory function remained largely unchanged.
- Overall, while most patients experienced a slowdown in the decline of motor abilities after the switch, individual results varied, with some showing improvement and others continuing to decline.
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.
Background: Pompe disease is a rare neuromuscular disorder caused by a deficiency of a lysosomal enzyme, acid α-glucosidase. Macroglossia is a classic clinical sign of several inherited myopathies and has also been reported to occur progressively in late-onset Pompe disease (LOPD).
Methods: We describe patients with LOPD and macroglossia included in the French national Pompe disease registry.
Background And Purpose: Data on interruption of enzyme replacement therapy (ERT) are scarce in late onset Pompe disease. Due to the COVID-19 crisis, eight neuromuscular reference centers in France were obligated to stop the treatment for 31 patients.
Methods: We collected the motor and respiratory data from our French registry, before COVID-19 and at treatment restart.
Despite a wide clinical spectrum, the adult form of Pompe disease is the most common one, and represents more than 90% of diagnosed patients in France. Since the marketing of enzyme replacement therapy (alglucosidase alfa, Myozyme), all reports to date in adults demonstrated an improvement of the walking distance, and a trend toward stabilization of respiratory function, but the majority of these studies were less than 5 years of duration. We report here the findings from 158 treated patients included in the French Pompe Registry, who underwent regular clinical assessments based on commonly used standardized tests (6-minute walking test, MFM scale, sitting vital capacity, MIP and MEP).
View Article and Find Full Text PDFObjective: To determine the effects of 10 years of enzyme replacement therapy (ERT) in adult patients with Pompe disease, focusing on individual variability in treatment response.
Methods: In this prospective, multicenter cohort study, we studied 30 patients from the Netherlands and France who had started ERT during the only randomized placebo-controlled clinical trial with ERT in late-onset Pompe disease (NCT00158600) or its extension (NCT00455195) in 2005 to 2008. Main outcomes were walking ability (6-minute walk test [6MWT]), muscle strength (manual muscle testing using Medical Research Council [MRC] grading), and pulmonary function (forced vital capacity [FVC] in the upright and supine positions), assessed at 3- to 6-month intervals before and after the start of ERT.
Pompe disease (PD) is caused by a deficiency of lysosomal acid α-glucosidase resulting from mutations in the GAA gene. The clinical spectrum ranges from a rapidly fatal multisystemic disorder (classic PD, onset < 1 year) to a milder adult onset myopathy. The aims of this study were to characterize the GAA mutations, to establish the disease epidemiology, and to identify potential genotype-phenotype correlations in French late-onset PD patients (onset ≥ 2 years) diagnosed since the 1970s.
View Article and Find Full Text PDFBackground: The efficacy of enzyme replacement therapy (ERT) in patients at an advanced stage of Pompe disease has only been addressed in a few studies. Our objective was to assess the long term effects of ERT in a cohort of patients with severe Pompe disease.
Methods: We identified patients from the French Pompe Registry with severe respiratory failure and permanent wheelchair use (assisted walk for a few meters was allowed) when starting ERT.
Immunogenicity of recombinant human acid-alpha glucosidase (rhGAA) in enzyme replacement therapy (ERT) is a safety and efficacy concern in the management of late-onset Pompe disease (LOPD). However, long-term effects of ERT on humoral and cellular responses to rhGAA are still poorly understood. To better understand the impact of immunogenicity of rhGAA on the efficacy of ERT, clinical data and blood samples from LOPD patients undergoing ERT for >4 years (n = 28) or untreated (n = 10) were collected and analyzed.
View Article and Find Full Text PDFPregnancy and delivery are challenging in women affected by Pompe disease with respiratory involvement. We describe a 28-year-old woman, who continued to receive enzyme replacement therapy during pregnancy and had an uneventful vaginal birth. Before pregnancy the patient's vital capacity was 52% in sitting position and 51% in supine position.
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