Publications by authors named "Laforet P"
The molecular diagnosis of type 1 facioscapulohumeral muscular dystrophy (FSHD1) relies on the detection of a shortened D4Z4 array at the 4q35 locus. Until recently, the diagnosis of FSHD2 relied solely on the absence of a shortened D4Z4 allele in clinically affected patients. It is now established that most FSHD2 cases carry a heterozygous variant in the SMCHD1 gene.
View Article and Find Full Text PDFBackground: Spinal muscular atrophy (SMA) patients benefit from pre-mRNA splicing modifiers targeting the SMN2 gene, which aims to increase functional SMN production. The animal toxicity affecting spermatogenesis associated with one such treatment raised questions about male SMA patients' spermatogenesis.
Methods: This descriptive, cross-sectional study was conducted from June 2022 to July 2023.
Patients with fatty acid oxidation disorders (FAODs) experience muscle symptoms due to impaired ATP metabolism and the toxicity of accumulated mitochondrial FAO substrates or intermediates, especially during catabolic states. A major issue is the absence of specific and sensible biomarkers to evaluate metabolic equilibrium. The relationship between cardiac output (Q) and oxygen consumption (VO) during incremental exercise (dQ/dVO) provides an indirect surrogate of mitochondrial function.
View Article and Find Full Text PDF-related myopathies: clinical, myopathological and genotypic spectrum in a multicentre French cohort.
J Neurol Neurosurg Psychiatry
October 2024
Background: Myosin heavy chain 7 ()-related myopathies (-RMs) are a group of muscle disorders linked to pathogenic variants in the gene, encoding the slow/beta-cardiac myosin heavy chain, which is highly expressed in skeletal muscle and heart. The phenotype is heterogeneous including distal, predominantly axial or scapuloperoneal myopathies with variable cardiac involvement.
Methods: We retrospectively analysed the clinical, muscle MRI, genetic and myopathological features of 57 patients.
Background: This study aimed to describe treatment patterns in patients with myasthenia gravis (MG) in France.
Methods: A retrospective cohort analysis was performed using the French National Health Data System (SNDS) database between 2008 and 2019. MG patients were identified using ICD-10 codes during hospitalization and/or long-term disease.
Article Synopsis
- - The R-PAct scale is designed to measure how Pompe disease affects daily life, and this study aimed to validate it for use in different languages and countries.
- - Researchers created German, French, Italian, and Spanish versions of the scale and collected data from Pompe patients in several countries, combining it with existing data for analysis.
- - Results showed that the modified R-PAct scale is valid and effectively measures two key areas of patient activity, with a minor adjustment made to improve its reliability across diverse populations.
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.
Introduction: Pompe disease is caused by a rare biallelic mutation in the GAA gene resulting in acid α-glucosidase deficiency and glycogen accumulation.
Aim: We analyzed hospital admissions associated with the administration of Myozyme®, utilizing the French hospital discharge database, known in France as the Programme de Médicalisation des Systèmes d'Information (PMSI), which comprehensively captures all hospital activity within the country.
Methods: In this observational study, we examined hospitalization records from April 4, 2012, to December 31, 2019, within the PMSI database, focusing on admissions where Myozyme® was administered.
Article Synopsis
- Two new enzyme replacement therapies for late-onset Pompe disease received approval from the European Medicines Agency between 2022 and 2023, prompting an update to treatment guidelines by the European Pompe Consortium (EPOC).
- The EPOC, consisting of 25 experts from eight countries, developed a consensus on when to start, switch, or stop ERT based on in-person meetings and discussions.
- Recommendations emphasize starting ERT in symptomatic patients, criteria for switching treatments based on muscle function stabilization, and the option of stopping ERT if there are severe reactions or lack of improvement, with regular assessments every six months to monitor progress.
Article Synopsis
- Congenital myasthenic syndromes (CMS) are genetic disorders that impact neuromuscular transmission, primarily identified in childhood but often diagnosed in adulthood, leading to challenges in management.
- A study of 235 adult CMS patients in France revealed diverse genetic mutations and highlighted the need for ongoing care, as the prognosis and long-term outcomes remain unclear.
- The research categorized patients based on the initial symptoms and found varied disease progression patterns, with certain genotypes showing higher rates of ICU admission and the stability of phenotypical features across a patient's life.
Article Synopsis
- - About 1% of the global population uses wheelchairs, which puts them at risk for pressure injuries from prolonged sitting; a connected pressure detection system could help prevent these injuries if user needs are understood.
- - A study surveyed wheelchair users to explore their views on pressure detection systems, revealing that while many users (78.4%) saw the value in such systems, only 17.0% were aware of their existence.
- - Users favored a pressure warning alarm feature (4.2/5 rating) and preferred personalized alerts based on their habits rather than strict medical guidelines, indicating a need for better awareness and education about available solutions.
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 PROPEL study compared a new therapy, cipaglucosidase alfa + miglustat (cipa + mig), to the standard treatment, alglucosidase alfa + placebo (alg + pbo), for adults with late-onset Pompe disease (LOPD).
- An ongoing open-label extension study is assessing the long-term safety and effectiveness of cipa + mig, focusing on various outcome measures like walking distance and lung function.
- After 104 weeks, patients on cipa + mig showed maintained improvements in walking distance and biomarkers with minimal safety concerns, indicating potential long-term benefits for those with LOPD.
Article Synopsis
- In 2017, nusinersen, an injectable treatment for spinal muscular atrophy (SMA), was introduced, followed by the oral treatment risdiplam in 2020, leading to questions about appropriate care for adults with SMA due to limited data.
- To standardize treatment access in France, a national SMA multidisciplinary team meeting (SMDT) was established in 2018 to support decision-making for adult patients.
- An analysis of 107 patient cases showed that the SMDTs provided various treatment recommendations based on consultations, with most requests aimed at starting new treatments (nusinersen or risdiplam).
Article Synopsis
- * The majority of the 44 patients experienced disease onset during childhood, with symptoms including muscle pain, weakness, and frequent episodes of rhabdomyolysis, often leading to significant complications; many patients took years to receive a diagnosis.
- * The study suggests the establishment of a standardized patient registry to better track and evaluate treatment effectiveness and patient outcomes over the long term.
Adults with late-onset Pompe disease (aLOPD) are characterized by muscular contractile tissue deterioration. However, their neuromuscular performances are poorly known. We aimed to compare maximal muscle strength, activation, explosive strength and neuromuscular fatigue between aLOPD and controls.
View Article and Find Full Text PDFBackground: The objectives of this observational study were to report the incidence and prevalence of myasthenia gravis (MG) in France, describe patients' characteristics and treatment patterns, and estimate mortality.
Methods: A historical cohort analysis was performed using the French National Health Data System (SNDS) database between 2008 and 2020. Patients with MG were identified based on ICD-10 codes during hospitalization and/or long-term disease (ALD) status, which leads to a 100% reimbursement for healthcare expenses related to MG.
Background: Adults with neuromuscular diseases like spinal muscular atrophy or Duchenne muscular dystrophy require full-time use of a wheelchair (WC) and perform all activities of daily living in a sitting position. Optimal configuration of the WC and seating system is essential to maintain the health and quality of life of users. However, few recommendations for configuration exist.
View Article and Find Full Text PDFBackground: The diagnosis of patients with mutations in the VCP gene can be complicated due to their broad phenotypic spectrum including myopathy, motor neuron disease and peripheral neuropathy. Muscle MRI guides the diagnosis in neuromuscular diseases (NMDs); however, comprehensive muscle MRI features for VCP patients have not been reported so far.
Methods: We collected muscle MRIs of 80 of the 255 patients who participated in the "VCP International Study" and reviewed the T1-weighted (T1w) and short tau inversion recovery (STIR) sequences.
Background Chronic respiratory failure and heart involvement may occur in Duchenne muscular dystrophy. We aimed to assess the prognostic value of the right ventricular (RV) systolic dysfunction in patients with Duchenne muscular dystrophy. Methods and Results We studied 90 genetically proven patients with Duchenne muscular dystrophy from 2010 to 2019, to obtain respiratory function and Doppler echocardiographic RV systolic function.
View Article and Find Full Text PDFBackground: The late-onset form of Pompe disease (LOPD) is characterized by muscle weakness, locomotor limitations and a risk of falls. The mechanisms responsible for altered locomotion in adults with LOPD are unknown. The identification of clinical biomarkers is essential for clinical follow-up and research.
View Article and Find Full Text PDFArticle Synopsis
- The Protocole National De Diagnostic et de Soins (PNDS) offers guidance to healthcare professionals on providing optimal care for patients with glycogen storage disease type III (GSD III).
- It includes tools for diagnosing the disease's severity, necessary tests for monitoring, and a clearer understanding of treatment aspects.
- However, the PNDS cannot account for all unique patient situations or conditions and should not replace the physician's individual responsibility in patient care.
Article Synopsis
- The EUROMAC registry was created to collect data on rare muscle glycogenosis, including GSD5, to aid research and improve understanding of these conditions across Europe and the US.
- A study involving 282 participants revealed that most of them are socially active, with many finding dietary changes helpful; however, they experience significant fatigue and physical limitations.
- Findings suggest that while disabled in some ways, participants maintain a good level of social engagement and that specific diets and regular exercise could help manage symptoms.*