Publications by authors named "Sabrina Sacconi"
Background: Autoantibodies are found in up to 80 % of patients with idiopathic inflammatory myopathies (IIM) and are associated with distinct clinical phenotypes. Autoantibodies targeting cytosolic 5'-nucleotidase 1A (anti-NT5C1A) are currently the only known serum biomarker for the subgroup inclusion body myositis (IBM), although detected even in other autoimmune diseases. The aim of the study was to identify new autoimmune targets in IIM.
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- The study investigates the effectiveness and safety of rozanolixizumab in treating patients with muscle-specific tyrosine kinase (MuSK) autoantibody-positive generalized myasthenia gravis (gMG), which is a severe form of the condition.
- Conducted as a randomized, double-blind, placebo-controlled phase III trial, it involved participants aged 18 and older who were randomly assigned to receive either rozanolixizumab (at two different dosages) or a placebo over 6 weeks.
- Results showed significant improvements in the Myasthenia Gravis Activities of Daily Living (MG-ADL) scores for both doses of rozanolixizumab compared to placebo, with manageable side effects reported;
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- 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.
Facioscapulohumeral muscular dystrophy (FSHD) is one of the most common genetically inherited myopathies in adults. It is characterized by incomplete penetrance and variable expressivity. Typically, FSHD patients display asymmetric weakness of facial, scapular, and humeral muscles that may progress to other muscle groups, particularly the abdominal and lower limb muscles.
View Article and Find Full Text PDFNeuromuscular diseases (NMDs), in their phenotypic heterogeneity, share quite invariably common issues that involve several clinical and socio-economical aspects, needing a deep critical analysis to develop better management strategies. From diagnosis to treatment and follow-up, the development of technological solutions can improve the detection of several critical aspects related to the diseases, addressing both the met and unmet needs of clinicians and patients. Among several aspects of the digital transformation of health and care, this congress expands what has been learned from previous congresses editions on applicability and usefulness of technological solutions in NMDs.
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- 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.
Background: Facioscapulohumeral muscular dystrophy is a hereditary progressive myopathy caused by aberrant expression of the transcription factor DUX4 in skeletal muscle. No approved disease-modifying treatments are available for this disorder. We aimed to assess the safety and efficacy of losmapimod (a small molecule that inhibits p38α MAPK, a regulator of DUX4 expression, and p38β MAPK) for the treatment of facioscapulohumeral muscular dystrophy.
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- 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.
To date, little is known about the usefulness of ultra-high frequency ultrasound (UHF-US, 50-70 MHz) in clinical practice for the diagnosis of dysimmune neuropathies. We present a prospective study aimed at comparing UHF-US alterations of nerves and fascicles in chronic inflammatory demyelinating polyradiculoneuropathy (CIDP), distal CIDP (d-CIDP) and anti-MAG neuropathy and their relationships with clinical and electrodiagnostic (EDX) features. 28 patients were included (twelve CIDP, 6 d-CIDP and 10 anti-MAG) and ten healthy controls.
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- 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).
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- Hereditary transthyretin amyloidosis (ATTRv) is a genetic disease that typically starts in adults and leads to progressive nervous system issues, but there are effective treatments available.
- A study conducted in France over five years analyzed 553 patients over 50 with progressive nerve problems, finding that 2.7% had pathogenic gene variants linked to ATTRv, primarily the Val30Met variant.
- Patients with ATTRv were more likely to experience symptoms like severe weight loss and orthostatic hypotension, and the diagnosis allowed for specific treatments and identified additional cases in family members, emphasizing the importance of early detection.
Introduction: The use of teleconsultations for mental health has drastically increased since 2020 due to the Covid19 pandemic. In the present paper, we aimed to analyze the advantages and disadvantages of teleconsultations for mental health compared to face-to-face consultations, and to provide recommendations in this domain.
Methods: The recommendations were gathered using a Delphi methodology.
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- 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.*
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- 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.
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- The ADVANCE-CIDP 1 study tested the effectiveness and safety of facilitated subcutaneous immunoglobulin (fSCIG) in reducing relapses of chronic inflammatory demyelinating polyradiculoneuropathy (CIDP) compared to a placebo.
- The study was a phase 3 trial that involved 132 eligible adults who had been receiving stable intravenous immunoglobulin (IVIG) prior to being randomized to either fSCIG or placebo for 6 months.
- Results showed that fSCIG significantly reduced CIDP relapse rates compared to the placebo, although adverse events were more frequent with fSCIG, but serious complications were less common.
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- Pompe disease is a rare genetic disorder caused by a deficiency of the enzyme lysosomal acid alpha-glucosidase, and enzyme replacement therapy (ERT) is the only treatment available to manage this condition.
- This study focused on managing infusion-associated reactions (IAR) in late-onset Pompe disease patients in France, analyzing data from 115 patients treated between 2006 and 2020, where 15 experienced at least one hypersensitivity reaction.
- The findings indicate that ERT can be safely reintroduced using premedication, modified regimens, or desensitization protocols, even in patients with severe reactions or high antibody levels.
Telomeric repeat binding factor 2 (TRF2) binds to telomeres and protects chromosome ends against the DNA damage response and senescence. Although the expression of TRF2 is downregulated upon cellular senescence and in various aging tissues, including skeletal muscle tissues, very little is known about the contribution of this decline to aging. We previously showed that TRF2 loss in myofibers does not trigger telomere deprotection but mitochondrial dysfunction leading to an increased level of reactive oxygen species.
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- Generalised myasthenia gravis is a serious autoimmune disease that currently lacks effective treatment options, leading researchers to explore rozanolixizumab as a new therapy.
- The MycarinG study was a rigorous, randomized, double-blind trial involving 300 patients across multiple continents, assessing the safety and effectiveness of different doses of rozanolixizumab compared to a placebo.
- The primary goal of the trial was to evaluate improvements in daily living activities, while also monitoring any adverse effects from the treatment over a 6-week period.
Background: Telemedicine (TM) contributes to bridge the gap between healthcare facilities and patients' homes with neuromuscular disease (NMD) because of mobility issues. However, its deployment is limited due to difficulties evaluating subtle neurological signs such as mild weakness or sensory deficits. The COVID-19 pandemic has disrupted healthcare delivery worldwide, necessitating rapid measures implementation by health care providers (HCPs) to protect patients from acquiring SARS-CoV-2 while maintaining the best care and treatment.
View Article and Find Full Text PDFBackground And Purpose: Although myasthenia gravis (MG) is recognized as an immunoglobulin G autoantibody-mediated disease, the relationship between autoantibody levels and disease activity in MG is unclear. We sought to evaluate this landscape through systematically assessing the evidence, testing the impact of predefined variables on any relationship, and augmenting with expert opinion.
Methods: In October 2020, a forum of leading clinicians and researchers in neurology from across Europe (Expert Forum for Rare Autoantibodies in Neurology in Myasthenia Gravis) participated in a series of virtual meetings that took place alongside the conduct of a systematic literature review (SLR).
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- Pompe disease is a rare neuromuscular disorder caused by a deficiency in the enzyme GAA, leading to glycogen accumulation, and the study focuses on the long-term efficacy and safety of avalglucosidase alfa, a new enzyme replacement therapy for late-onset Pompe disease.
- In the clinical trials NEO1 and NEO-EXT, 24 participants received varying doses of avalglucosidase alfa, and most remained in the study for up to 6.5 years with no serious adverse events reported.
- Results showed that the treatment was generally well tolerated, maintaining stable respiratory function and walking ability over time, despite some participants developing antibodies against the drug without negative clinical effects.
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- Lambert-Eaton myasthenic syndrome (LEMS) is an autoimmune disorder that leads to muscle weakness and autonomic changes due to autoantibodies attacking calcium channels at the neuromuscular junction.
- A European LEMS registry involved 30 centers across four countries to gather data on the safety and long-term outcomes of 3,4-diaminopyridine phosphate (3,4-DAPP) for patients with LEMS.
- Results showed that muscle strength was generally maintained, with 77.1% of participants exposed to 3,4-DAPP, while 33.3% reported treatment-related adverse events, but no new safety concerns were identified.
Background And Purpose: Andersen-Tawil syndrome (ATS) is a skeletal muscle channelopathy caused by KCNJ2 mutations, characterized by a clinical triad of periodic paralysis, cardiac arrhythmias and dysmorphism. The muscle phenotype, particularly the atypical forms with prominent permanent weakness or predominantly painful symptoms, remains incompletely characterized.
Methods: A retrospective clinical, histological, electroneuromyography (ENMG) and genetic analysis of molecularly confirmed ATS patients, diagnosed and followed up at neuromuscular reference centers in France, was conducted.